Details for: CACNA1C

Gene ID: 775

Symbol: CACNA1C

Ensembl ID: ENSG00000151067

Description: calcium voltage-gated channel subunit alpha1 C

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 9.7
    Marker Score: 58283
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 6.73
    Marker Score: 3648
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 6.61
    Marker Score: 3676
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 5.44
    Marker Score: 121599
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 4.12
    Marker Score: 22138
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 4.08
    Marker Score: 14517.5
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 3.87
    Marker Score: 7439.5
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 3.81
    Marker Score: 3637
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 3.81
    Marker Score: 1971
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.64
    Marker Score: 16861
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 3.51
    Marker Score: 8058
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 3.43
    Marker Score: 1132
  • Cell Name: granule cell (CL0000120)
    Fold Change: 3.2
    Marker Score: 24142
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 3.16
    Marker Score: 3637
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 3.07
    Marker Score: 8769
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 3.01
    Marker Score: 12589
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.89
    Marker Score: 57586
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.87
    Marker Score: 21969
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 2.85
    Marker Score: 1261
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.82
    Marker Score: 1636
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 2.79
    Marker Score: 9353
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.74
    Marker Score: 866
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 2.74
    Marker Score: 931
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.74
    Marker Score: 103904
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.71
    Marker Score: 40544
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.71
    Marker Score: 4546
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.69
    Marker Score: 1035
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.62
    Marker Score: 56009
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.47
    Marker Score: 10230
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.45
    Marker Score: 90378
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 2.4
    Marker Score: 762
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.36
    Marker Score: 9125
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 2.29
    Marker Score: 1102
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 2.27
    Marker Score: 711
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.19
    Marker Score: 20622
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 2.18
    Marker Score: 28947
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.11
    Marker Score: 71294
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.08
    Marker Score: 127947
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 2.02
    Marker Score: 906
  • Cell Name: neuron (CL0000540)
    Fold Change: 2.01
    Marker Score: 8173
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2
    Marker Score: 20626
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.94
    Marker Score: 502
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.93
    Marker Score: 18322
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.88
    Marker Score: 16158
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.83
    Marker Score: 9589
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.72
    Marker Score: 1134
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.68
    Marker Score: 632.5
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.65
    Marker Score: 2554
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.65
    Marker Score: 3627
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.65
    Marker Score: 1430
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.54
    Marker Score: 1920
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.52
    Marker Score: 444
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.51
    Marker Score: 634
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.5
    Marker Score: 1333
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.49
    Marker Score: 3515
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.49
    Marker Score: 1840
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.47
    Marker Score: 875
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.44
    Marker Score: 1799
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.44
    Marker Score: 709
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.39
    Marker Score: 781
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 1.33
    Marker Score: 404
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.29
    Marker Score: 899
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.29
    Marker Score: 147928
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.26
    Marker Score: 506
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.17
    Marker Score: 4859
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.14
    Marker Score: 300
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.11
    Marker Score: 283
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.11
    Marker Score: 2616.5
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.11
    Marker Score: 303
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.09
    Marker Score: 1467
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.09
    Marker Score: 635
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.03
    Marker Score: 575
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.03
    Marker Score: 1446
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.03
    Marker Score: 694
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71803
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48028
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.91
    Marker Score: 873
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5189
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.89
    Marker Score: 668
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.88
    Marker Score: 1603
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5282
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.87
    Marker Score: 2076.5
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.86
    Marker Score: 13849
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.85
    Marker Score: 650
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.85
    Marker Score: 557
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.84
    Marker Score: 3534
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.81
    Marker Score: 6835
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.8
    Marker Score: 321
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1257
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.77
    Marker Score: 312
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.76
    Marker Score: 543
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.76
    Marker Score: 916
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 687

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Other Information

**Key characteristics:** - The CACNA1C gene is located on chromosome 17q21.1. - It is a large gene, encoding for a protein of approximately 1100 amino acids. - The protein is a member of the voltage-gated calcium channel family. - It is expressed in a variety of cell types, including fibroblasts, myocytes, and neurons. **Pathways and functions:** - The CACNA1C gene is involved in a variety of cellular processes, including insulin secretion, axon guidance, cardiac conduction, and neurite outgrowth. - In the heart, the CACNA1C gene is involved in cardiac conduction. It is expressed in the sinoatrial node, atrioventricular node, and Purkinje fibers. - In the brain, the CACNA1C gene is involved in axon guidance. It is expressed in neurons throughout the brain. - In the nervous system, the CACNA1C gene is involved in a variety of cellular processes, including synaptic plasticity, learning and memory, and pain sensation. **Clinical significance:** - Mutations in the CACNA1C gene have been linked to a number of human diseases, including cardiovascular disease, stroke, and diabetes. - In some cases, mutations in the CACNA1C gene can cause a genetic disorder called catecholaminergic polycystic kidney disease (CAPD). - CAPD is caused by mutations in the CACNA1C gene. People with CAPD have high levels of a protein called caveolin-1 in their urine. Caveolin-1 is a protein that is normally found in caveolae, which are small, finger-like projections that extend from the surface of blood vessels. In people with CAPD, the caveolin-1 protein is deposited in the kidneys, where it can damage the tissue and lead to kidney failure.

Genular Protein ID: 1781441040

Symbol: CAC1C_HUMAN

Name: Voltage-dependent L-type calcium channel subunit alpha-1C

UniProtKB Accession Codes:

Q13936 B2RUT3 E9PDJ0 Q13917 Q13918 Q13919 Q13920 Q13921 Q13922 Q13923 Q13924 Q13925 Q13926 Q13927 Q13928 Q13929 Q13930 Q13932 Q13933 Q14743 Q14744 Q15877 Q4VMI7 Q4VMI8 Q4VMI9 Q6PKM7 Q8N6C0 Q99025 Q99241 Q99875

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 21 CTD 1 ChEBI 3 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 46 DrugCentral 1 EMBL 87 EMDB 5 EPD 1 Ensembl 38 EvolutionaryTrace 1 ExpressionAtlas 1 GO 37 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 32 PDBsum 20 PIR 6 PRINTS 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 36 RNAct 1 Reactome 5 RefSeq 23 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 4 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1316612

Title: Molecular diversity of L-type Ca2+ channel transcripts in human fibroblasts.

PubMed ID: 1316612

DOI: 10.1073/pnas.89.10.4628

PubMed ID: 8392192

Title: Cloning, chromosomal localization, and functional expression of the alpha-1 subunit of the L-type voltage-dependent calcium channel from normal human heart.

PubMed ID: 8392192

DOI: 10.1073/pnas.90.13.6228

PubMed ID: 7959794

Title: Genomic structure of human L-type Ca2+ channel.

PubMed ID: 7959794

DOI: 10.1006/geno.1994.1347

PubMed ID: 7737988

Title: Different voltage-dependent inhibition by dihydropyridines of human Ca2+ channel splice variants.

PubMed ID: 7737988

DOI: 10.1074/jbc.270.18.10540

PubMed ID: 9087614

Title: Properties of three COOH-terminal splice variants of a human cardiac L-type Ca2+-channel alpha1-subunit.

PubMed ID: 9087614

DOI: 10.1152/ajpheart.1997.272.3.h1372

PubMed ID: 9013606

Title: Molecular structures involved in L-type calcium channel inactivation. Role of the carboxyl-terminal region encoded by exons 40-42 in alpha1C subunit in the kinetics and Ca2+ dependence of inactivation.

PubMed ID: 9013606

DOI: 10.1074/jbc.272.6.3560

PubMed ID: 9607315

Title: Ca2+ channel sensitivity towards the blocker isradipine is affected by alternative splicing of the human alpha1C subunit gene.

PubMed ID: 9607315

DOI: 10.1016/s0014-5793(98)00425-6

PubMed ID: 12176756

Title: Alpha(1C) (Ca(V)1.2) L-type calcium channel mediates mechanosensitive calcium regulation.

PubMed ID: 12176756

DOI: 10.1152/ajpcell.00140.2002

PubMed ID: 17071743

Title: Atherosclerosis-related molecular alteration of the human CaV1.2 calcium channel alpha1C subunit.

PubMed ID: 17071743

DOI: 10.1073/pnas.0606539103

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11741969

Title: A novel long N-terminal isoform of human L-type Ca2+ channel is up-regulated by protein kinase C.

PubMed ID: 11741969

DOI: 10.1074/jbc.c100642200

PubMed ID: 2173707

Title: Molecular diversity of L-type calcium channels. Evidence for alternative splicing of the transcripts of three non-allelic genes.

PubMed ID: 2173707

DOI: 10.1016/s0021-9258(17)30522-7

PubMed ID: 1653763

Title: Assignment of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CCHL1A1) to chromosome 12p12-pter.

PubMed ID: 1653763

DOI: 10.1016/0888-7543(91)90471-p

PubMed ID: 1335957

Title: Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter.

PubMed ID: 1335957

DOI: 10.1016/s0888-7543(05)80135-1

PubMed ID: 8099908

Title: Molecular localization of ion selectivity sites within the pore of a human L-type cardiac calcium channel.

PubMed ID: 8099908

DOI: 10.1016/s0021-9258(19)38613-2

PubMed ID: 12181424

Title: Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.

PubMed ID: 12181424

DOI: 10.1124/mol.62.3.485

PubMed ID: 15140941

Title: Ca2+-binding protein-1 facilitates and forms a postsynaptic complex with Cav1.2 (L-type) Ca2+ channels.

PubMed ID: 15140941

DOI: 10.1523/jneurosci.5523-03.2004

PubMed ID: 15980432

Title: Molecular mechanism for divergent regulation of Cav1.2 Ca2+ channels by calmodulin and Ca2+-binding protein-1.

PubMed ID: 15980432

DOI: 10.1074/jbc.m504167200

PubMed ID: 29078335

Title: Structural insights into binding of STAC proteins to voltage-gated calcium channels.

PubMed ID: 29078335

DOI: 10.1073/pnas.1708852114

PubMed ID: 28119464

Title: Ser1928 phosphorylation by PKA stimulates the L-type Ca2+ channel CaV1.2 and vasoconstriction during acute hyperglycemia and diabetes.

PubMed ID: 28119464

DOI: 10.1126/scisignal.aaf9647

PubMed ID: 29742403

Title: Alternative Splicing at N Terminus and Domain I Modulates CaV1.2 Inactivation and Surface Expression.

PubMed ID: 29742403

DOI: 10.1016/j.bpj.2018.03.029

PubMed ID: 29779930

Title: Channel Binds Hemagglutinin and Mediates Influenza A Virus Entry into Mammalian Cells.

PubMed ID: 29779930

DOI: 10.1016/j.chom.2018.04.015

PubMed ID: 15141227

Title: Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain.

PubMed ID: 15141227

DOI: 10.1038/nature02588

PubMed ID: 16299511

Title: Insights into voltage-gated calcium channel regulation from the structure of the CaV1.2 IQ domain-Ca2+/calmodulin complex.

PubMed ID: 16299511

DOI: 10.1038/nsmb1027

PubMed ID: 16338416

Title: Structure of calmodulin bound to the hydrophobic IQ domain of the cardiac Ca(v)1.2 calcium channel.

PubMed ID: 16338416

DOI: 10.1016/j.str.2005.09.021

PubMed ID: 19279214

Title: Crystal structure of dimeric cardiac L-type calcium channel regulatory domains bridged by Ca2+* calmodulins.

PubMed ID: 19279214

DOI: 10.1073/pnas.0807487106

PubMed ID: 20953164

Title: Multiple C-terminal tail Ca(2+)/CaMs regulate Ca(V)1.2 function but do not mediate channel dimerization.

PubMed ID: 20953164

DOI: 10.1038/emboj.2010.260

PubMed ID: 22518098

Title: Structural basis for the regulation of L-type voltage-gated calcium channels: interactions between the N-terminal cytoplasmic domain and Ca(2+)-calmodulin.

PubMed ID: 22518098

DOI: 10.3389/fnmol.2012.00038

PubMed ID: 15454078

Title: Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

PubMed ID: 15454078

DOI: 10.1016/j.cell.2004.09.011

PubMed ID: 15863612

Title: Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

PubMed ID: 15863612

DOI: 10.1073/pnas.0502506102

PubMed ID: 17224476

Title: Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.

PubMed ID: 17224476

DOI: 10.1161/circulationaha.106.668392

PubMed ID: 21248752

Title: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

PubMed ID: 21248752

DOI: 10.1038/nature09639

PubMed ID: 23677916

Title: Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.

PubMed ID: 23677916

DOI: 10.1161/circgenetics.113.000138

PubMed ID: 24728418

Title: Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.

PubMed ID: 24728418

DOI: 10.1093/europace/euu063

PubMed ID: 26253506

Title: Identification and functional characterization of a novel CACNA1C-mediated cardiac disorder characterized by prolonged QT intervals with hypertrophic cardiomyopathy, congenital heart defects, and sudden cardiac death.

PubMed ID: 26253506

DOI: 10.1161/circep.115.002745

PubMed ID: 25260352

Title: Novel Timothy syndrome mutation leading to increase in CACNA1C window current.

PubMed ID: 25260352

DOI: 10.1016/j.hrthm.2014.09.051

PubMed ID: 25633834

Title: Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.

PubMed ID: 25633834

DOI: 10.1016/j.yjmcc.2015.01.002

PubMed ID: 26637798

Title: Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

PubMed ID: 26637798

DOI: 10.1016/j.neuron.2015.11.009

PubMed ID: 27218670

Title: Molecular and functional characterization of rare CACNA1C variants in sudden unexplained death in the young.

PubMed ID: 27218670

DOI: 10.1111/chd.12371

PubMed ID: 30513141

Title: Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

PubMed ID: 30513141

DOI: 10.1002/ajmg.a.40657

PubMed ID: 30023270

Title: A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects.

PubMed ID: 30023270

DOI: 10.1016/j.hrcr.2018.03.003

PubMed ID: 30172029

Title: A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.

PubMed ID: 30172029

DOI: 10.1016/j.hrthm.2018.08.030

PubMed ID: 30345660

Title: Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.

PubMed ID: 30345660

DOI: 10.1002/mgg3.476

PubMed ID: 34163037

Title: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

PubMed ID: 34163037

DOI: 10.1038/s41436-021-01232-8

PubMed ID: 34522029

Title:

PubMed ID: 34522029

DOI: 10.1038/s41436-021-01306-7

Sequence Information:

  • Length: 2221
  • Mass: 248977
  • Checksum: 7E755F7AF4C86769
  • Sequence:
    • MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR 
QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI 
VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA 
YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR 
VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN 
QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI 
TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD 
FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA 
GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT 
IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI 
LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL 
FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG 
GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR 
TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP 
ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT 
IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KILGNADYVF 
TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL 
RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD 
SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL 
LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC 
ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH 
YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL 
SETNHYFCDA WNTFDALIVV GSIVDIAITE VNPAEHTQCS PSMNAEENSR ISITFFRLFR 
VMRLVKLLSR GEGIRTLLWT FIKSFQALPY VALLIVMLFF IYAVIGMQVF GKIALNDTTE 
INRNNNFQTF PQAVLLLFRC ATGEAWQDIM LACMPGKKCA PESEPSNSTE GETPCGSSFA 
VFYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWA EYDPEAKGRI 
KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVSMNMPLNS DGTVMFNATL FALVRTALRI 
KTEGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK 
KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE 
DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST 
FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS 
SNRERHVPMC EDLELRRDSG SAGTQAHCLL LRKANPSRCH SRESQAAMAG QEETSQDETY 
EVKMNHDTEA CSEPSLLSTE MLSYQDDENR QLTLPEEDKR DIRQSPKRGF LRSASLGRRA 
SFHLECLKRQ KDRGGDISQK TVLPLHLVHH QALAVAGLSP LLQRSHSPAS FPRPFATPPA 
TPGSRGWPPQ PVPTLRLEGV ESSEKLNSSF PSIHCGSWAE TTPGGGGSSA ARRVRPVSLM 
VPSQAGAPGR QFHGSASSLV EAVLISEGLG QFAQDPKFIE VTTQELADAC DMTIEEMESA 
ADNILSGGAP QSPNGALLPF VNCRDAGQDR AGGEEDAGCV RARGRPSEEE LQDSRVYVSS 
L

Genular Protein ID: 3537043668

Symbol: E9PDI6_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PDI6

Database IDs:

ARBA 22 Antibodypedia 1 Bgee 1 CTD 1 ChEBI 3 ChiTaRS 1 EMBL 8 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 4 GeneTree 1 HGNC 1 InterPro 8 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 PANTHER 2 PIRSR 2 PRINTS 3 PeptideAtlas 2 Pfam 4 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 2 SMART 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 2198
  • Mass: 245946
  • Checksum: 60937ABB8B9814A6
  • Sequence:
    • MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR 
QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI 
VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA 
YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR 
VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN 
QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI 
TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD 
FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA 
GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT 
IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI 
LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL 
FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG 
GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR 
TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP 
ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT 
IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH 
KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ 
CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE 
VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV 
EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR 
RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG 
LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNNAEENS RISITFFRLF 
RVMRLVKLLS RGEGIRTLLW TFIKSFQALP YVALLIVMLF FIYAVIGMQV FGKIALNDTT 
EINRNNNFQT FPQAVLLLFR CATGEAWQDI MLACMPGKKC APESEPSNST EGETPCGSSF 
AVFYFISFYM LCAFLIINLF VAVIMDNFDY LTRDWSILGP HHLDEFKRIW AEYDPEAKGR 
IKHLDVVTLL RRIQPPLGFG KLCPHRVACK RLVSMNMPLN SDGTVMFNAT LFALVRTALR 
IKTEGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF 
KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS 
EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS 
TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL 
SSNRMHCCDM LDGGTFPPAL GPRRAPPCLH QQLQGSLAGL REDTPCIVPG HASLCCSSRV 
GEWLPAGCTA PQHARCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS 
YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL 
PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS 
EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV 
LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC 
RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL

Genular Protein ID: 2668277748

Symbol: A0A804HJB6_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A804HJB6

Database IDs:

ARBA 22 Bgee 1 CTD 1 ChEBI 3 EMBL 8 Ensembl 2 GO 8 Gene3D 4 GeneTree 1 HGNC 1 InterPro 8 MaxQB 1 NCBI Taxonomy 1 PANTHER 2 PIRSR 2 PRINTS 3 PeptideAtlas 2 Pfam 4 Proteomes 2 RefSeq 1 RuleBase 1 SAM 2 SMART 2 SMR 1 SUPFAM 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 2168
  • Mass: 242771
  • Checksum: 08E905801E1FBF1C
  • Sequence:
    • MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM 
NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK 
KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED 
DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA 
ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH 
IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT 
VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI 
FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE 
NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN 
RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE 
MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI 
TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD 
NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA 
IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT 
ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK 
AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN 
HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA 
INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL 
FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT 
VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ 
EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL 
LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI 
VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL 
WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF 
RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL 
FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF 
GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK 
KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS 
LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY 
QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA 
NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE 
TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS 
ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR 
PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR 
VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT 
IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD 
SRVYVSSL

Genular Protein ID: 630258902

Symbol: Q5V9X9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5V9X9

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 2 Gene3D 3 GenomeRNAi 1 InterPro 3 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 2 RefSeq 1 SAM 2 SMR 1

Citations:

PubMed ID: 15299022

Title: Transcript scanning reveals novel and extensive splice variations in human l-type voltage-gated calcium channel, Cav1.2 alpha1 subunit.

PubMed ID: 15299022

DOI: 10.1074/jbc.M407023200

Sequence Information:

  • Length: 210
  • Mass: 24402
  • Checksum: 42A944D84CE2BFE1
  • Sequence:
    • VNDAVGRDWP WIYFVTLIII GSFFVLNLVL GVLSGEFSKE REKAKARGDF QKLREKQQLE 
EDLKGYLDWI TQAEDIDPEN EDEGMDEEKP RNRGTPAGML DQKKGKFAWF SHSTETHVSM 
PTSETESVNT ENVAGGDIEG ENCGARLAHR ISKSKFSRYW RRWNRFCRRK CRAAVKSNVF 
YWLVIFLVFL NTLTIASEHY NQPNWLTEVQ

Genular Protein ID: 3990193063

Symbol: A0A804HKC4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A804HKC4

Database IDs:

ARBA 22 Bgee 1 CTD 1 ChEBI 3 EMBL 8 Ensembl 2 GO 8 Gene3D 4 GeneTree 1 HGNC 1 InterPro 8 MaxQB 1 NCBI Taxonomy 1 PANTHER 2 PIRSR 2 PRINTS 3 PeptideAtlas 2 Pfam 4 Proteomes 2 RefSeq 1 RuleBase 1 SAM 2 SMART 2 SMR 1 SUPFAM 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 2193
  • Mass: 245587
  • Checksum: 140D78B428D04E1F
  • Sequence:
    • MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM 
NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK 
KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED 
DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA 
ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH 
IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT 
VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI 
FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE 
NEDEGMDEEK PRNRGTPAGM LDQKKGKFAW FSHSTETHVS MPTSETESVN TENVAGGDIE 
GENCGARLAH RISKSKFSRY WRRWNRFCRR KCRAAVKSNV FYWLVIFLVF LNTLTIASEH 
YNQPNWLTEV QDTANKALLA LFTAEMLLKM YSLGLQAYFV SLFNRFDCFV VCGGILETIL 
VETKIMSPLG ISVLRCVRLL RIFKITRYWN SLSNLVASLL NSVRSIASLL LLLFLFIIIF 
SLLGMQLFGG KFNFDEMQTR RSTFDNFPQS LLTVFQILTG EDWNSVMYDG IMAYGGPSFP 
GMLVCIYFII LFICGNYILL NVFLAIAVDN LADAESLTSA QKEEEEEKER KKLARTASPE 
KKQELVEKPA VGESKEEKIE LKSITADGES PPATKINMDD LQPNENEDKS PYPNPETTGE 
EDEEEPEMPV GPRPRPLSEL HLKEKAVPMP EASAFFIFSS NNRFRLQCHR IVNDTIFTNL 
ILFFILLSSI SLAAEDPVQH TSFRNHILFY FDIVFTTIFT IEIALKMTAY GAFLHKGSFC 
RNYFNILDLL VVSVSLISFG IQSSAINVVK ILRVLRVLRP LRAINRAKGL KHVVQCVFVA 
IRTIGNIVIV TTLLQFMFAC IGVQLFKGKL YTCSDSSKQT EAECKGNYIT YKDGEVDHPI 
IQPRSWENSK FDFDNVLAAM MALFTVSTFE GWPELLYRSI DSHTEDKGPI YNYRVEISIF 
FIIYIIIIAF FMMNIFVGFV IVTFQEQGEQ EYKNCELDKN QRQCVEYALK ARPLRRYIPK 
NQHQYKVWYV VNSTYFEYLM FVLILLNTIC LAMQHYGQSC LFKIAMNILN MLFTGLFTVE 
MILKLIAFKP KGYFSDPWNV FDFLIVIGSI IDVILSETNP AEHTQCSPSM NAEENSRISI 
TFFRLFRVMR LVKLLSRGEG IRTLLWTFIK SFQALPYVAL LIVMLFFIYA VIGMQVFGKI 
ALNDTTEINR NNNFQTFPQA VLLLFRCATG EAWQDIMLAC MPGKKCAPES EPSNSTEGET 
PCGSSFAVFY FISFYMLCAF LIINLFVAVI MDNFDYLTRD WSILGPHHLD EFKRIWAEYD 
PEAKGRIKHL DVVTLLRRIQ PPLGFGKLCP HRVACKRLVS MNMPLNSDGT VMFNATLFAL 
VRTALRIKTE GNLEQANEEL RAIIKKIWKR TSMKLLDQVV PPAGDDEVTV GKFYATFLIQ 
EYFRKFKKRK EQGLVGKPSQ RNALSLQAGL RTLHDIGPEI RRAISGDLTA EEELDKAMKE 
AVSAASEDDI FRRAGGLFGN HVSYYQSDGR SAFPQTFTTQ RPLHINKAGS SQGDTESPSH 
EKLVDSTFTP SSYSSTGSNA NINNANNTAL GRLPRPAGYP STVSTVEGHG PPLSPAIRVQ 
EVAWKLSSNR CHSRESQAAM AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE 
NRQLTLPEED KRDIRQSPKR GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV 
HHQALAVAGL SPLLQRSHSP ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS 
SFPSIHCGSW AETTPGGGGS SAARRVRPVS LMVPSQAGAP GRQFHGSASS LVEAVLISEG 
LGQFAQDPKF IEVTTQELAD ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ 
DRAGGEEDAG CVRARGRPSE EELQDSRVYV SSL

Genular Protein ID: 2773987345

Symbol: A0A0A0MR67_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0A0MR67

Database IDs:

ARBA 22 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 3 ChiTaRS 1 DNASU 1 EMBL 8 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 4 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 8 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 2 PRINTS 3 PeptideAtlas 2 Pfam 4 Proteomes 2 RefSeq 1 RuleBase 1 SAM 2 SMART 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 2173
  • Mass: 243458
  • Checksum: 31B16CFFC5DB107C
  • Sequence:
    • MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR 
QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI 
VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA 
YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR 
VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN 
QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI 
TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD 
FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA 
GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT 
IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI 
LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL 
FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG 
GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR 
TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP 
ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT 
IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH 
KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ 
CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE 
VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV 
EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR 
RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG 
LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN 
SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ 
VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS 
TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI 
WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA 
TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA 
TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD 
KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT 
ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP 
AIRVQEVAWK LSSNRERHVP MCEDLELRRD SGSAGTQAHC LLLRRANPSR CHSRESQAAM 
AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR 
GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP 
ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS 
SAARRVRPVS LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD 
ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE 
EELQDSRVYV SSL

Genular Protein ID: 2871145292

Symbol: Q59GU3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59GU3

Database IDs:

ARBA 18 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 2 DNASU 1 EMBL 2 GO 8 Gene3D 2 GenomeRNAi 1 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PRINTS 3 PeptideAtlas 1 Pfam 2 RefSeq 1 RuleBase 1 SAM 2 SUPFAM 1

Sequence Information:

  • Length: 840
  • Mass: 95954
  • Checksum: 0ECC7A56D6714F8E
  • Sequence:
    • QLCLRHAHGV PVHHHGGLDG RAVLVSMPTS ETESVNTENV AGGDIEGENC GARLAHRISK 
SKFSRYWRRW NRFCRRKCRA AVKSNVFYWL VIFLVFLNTL TIASEHYNQP NWLTEVQDTA 
NKALLALFTA EMLLKMYSLG LQAYFVSLFN RFDCFVVCGG ILETILVETK IMSPLGISVL 
RCVRLLRIFK ITRYWNSLSN LVASLLNSVR SIASLLLLLF LFIIIFSLLG MQLFGGKFNF 
DEMQTRRSTF DNFPQSLLTV FQILTGEDWN SVMYDGIMAY GGPSFPGMLV CIYFIILFIC 
GNYILLNVFL AIAVDNLADA ESLTSAQKEE EEEKERKKLA RTASPEKKQE LVEKPAVGES 
KEEKIELKSI TADGESPPAT KINMDDLQPN ENEDKSPYPN PETTGEEDEE EPEMPVGPRP 
RPLSELHLKE KAVPMPEASA FFIFSSNNRF RLQCHRIVND TIFTNLILFF ILLSSISLAA 
EDPVQHTSFR NHILGNADYV FTSIFTLEII LKMTAYGAFL HKGSFCRNYF NILDLLVVSV 
SLISFGIQSS AINVVKILRV LRVLRPLRAI NRAKGLKHVV QCVFVAIRTI GNIVIVTTLL 
QFMFACIGVQ LFKGKLYTCS DSSKQTEAEC KGNYITYKDG EVDHPIIQPR SWENSKFDFD 
NVLAAMMALF TVSTFEGWPE LLYRSIDSHT EDKGPIYNYR VEISIFFIIY IIIIAFFMMN 
IFVGFVIVTF QEQGEQEYKN CELDKNQRQC VEYALKARPL RRYIPKNQHQ YKVWYVVNST 
YFEYLMFVLI LLNTICLAMQ HYGQSCLFKI AMNILNMLFT GLFTVEMILK LIAFKPKVGL

Genular Protein ID: 38348506

Symbol: F5H522_HUMAN

Name: N/A

UniProtKB Accession Codes:

F5H522

Database IDs:

ARBA 22 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 3 ChiTaRS 1 DNASU 1 EMBL 8 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 4 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 8 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 2 PRINTS 3 PeptideAtlas 2 Pfam 4 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 2 SMART 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 2163
  • Mass: 242406
  • Checksum: D56176EEDFCAA0CC
  • Sequence:
    • MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR 
QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI 
VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA 
YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR 
VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN 
QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI 
TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD 
FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNRGTPAGM LDQKKGKFAW 
FSHSTETHVS MPTSETESVN TENVAGGDIE GENCGARLAH RISKSKFSRY WRRWNRFCRR 
KCRAAVKSNV FYWLVIFLVF LNTLTIASEH YNQPNWLTEV QDTANKALLA LFTAEMLLKM 
YSLGLQAYFV SLFNRFDCFV VCGGILETIL VETKIMSPLG ISVLRCVRLL RIFKITRYWN 
SLSNLVASLL NSVRSIASLL LLLFLFIIIF SLLGMQLFGG KFNFDEMQTR RSTFDNFPQS 
LLTVFQILTG EDWNSVMYDG IMAYGGPSFP GMLVCIYFII LFICGNYILL NVFLAIAVDN 
LADAESLTSA QKEEEEEKER KKLARTASPE KKQELVEKPA VGESKEEKIE LKSITADGES 
PPATKINMDD LQPNENEDKS PYPNPETTGE EDEEEPEMPV GPRPRPLSEL HLKEKAVPMP 
EASAFFIFSS NNRFRLQCHR IVNDTIFTNL ILFFILLSSI SLAAEDPVQH TSFRNHILFY 
FDIVFTTIFT IEIALKMTAY GAFLHKGSFC RNYFNILDLL VVSVSLISFG IQSSAINVVK 
ILRVLRVLRP LRAINRAKGL KHVVQCVFVA IRTIGNIVIV TTLLQFMFAC IGVQLFKGKL 
YTCSDSSKQT EAECKGNYIT YKDGEVDHPI IQPRSWENSK FDFDNVLAAM MALFTVSTFE 
GWPELLYRSI DSHTEDKGPI YNYRVEISIF FIIYIIIIAF FMMNIFVGFV IVTFQEQGEQ 
EYKNCELDKN QRQCVEYALK ARPLRRYIPK NQHQYKVWYV VNSTYFEYLM FVLILLNTIC 
LAMQHYGQSC LFKIAMNILN MLFTGLFTVE MILKLIAFKP KHYFCDAWNT FDALIVVGSI 
VDIAITEVNP AEHTQCSPSM NAEENSRISI TFFRLFRVMR LVKLLSRGEG IRTLLWTFIK 
SFQALPYVAL LIVMLFFIYA VIGMQVFGKI ALNDTTEINR NNNFQTFPQA VLLLFRCATG 
EAWQDIMLAC MPGKKCAPES EPSNSTEGET PCGSSFAVFY FISFYMLCAF LIINLFVAVI 
MDNFDYLTRD WSILGPHHLD EFKRIWAEYD PEAKGRIKHL DVVTLLRRIQ PPLGFGKLCP 
HRVACKRLVS MNMPLNSDGT VMFNATLFAL VRTALRIKTE GNLEQANEEL RAIIKKIWKR 
TSMKLLDQVV PPAGDDEVTV GKFYATFLIQ EYFRKFKKRK EQGLVGKPSQ RNALSLQAGL 
RTLHDIGPEI RRAISGDLTA EEELDKAMKE AVSAASEDDI FRRAGGLFGN HVSYYQSDGR 
SAFPQTFTTQ RPLHINKAGS SQGDTESPSH EKLVDSTFTP SSYSSTGSNA NINNANNTAL 
GRLPRPAGYP STVSTVEGHG PPLSPAIRVQ EVAWKLSSNR CHSRESQAAM AGQEETSQDE 
TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR GFLRSASLGR 
RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP ASFPRPFATP 
PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS SAARRVRPVS 
LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD ACDMTIEEME 
SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE EELQDSRVYV 
SSL

Genular Protein ID: 1923996461

Symbol: A0A0A0MSA1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0A0MSA1

Database IDs:

ARBA 22 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 3 ChiTaRS 1 DNASU 1 EMBL 8 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 4 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 8 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 2 PRINTS 3 PeptideAtlas 2 Pfam 4 Proteomes 2 RefSeq 1 RuleBase 1 SAM 2 SMART 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 2173
  • Mass: 243661
  • Checksum: 93EDA1BC5CF0E7C5
  • Sequence:
    • MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR 
QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI 
VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA 
YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR 
VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN 
QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI 
TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD 
FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA 
GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT 
IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI 
LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL 
FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG 
GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR 
TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP 
ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT 
IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH 
KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ 
CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE 
VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV 
EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR 
RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG 
LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN 
SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ 
VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS 
TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI 
WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA 
TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA 
TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD 
KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT 
ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP 
AIRVQEVAWK LSSNRERHVP MCEDLELRRD SGSAGTQAHC LLLRRANPSR CHSRESQAAM 
AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR 
GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP 
ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS 
SAARRVRPVS LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD 
ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE 
EELQDSRVYV SSL

Genular Protein ID: 4067865815

Symbol: A0A804HIJ8_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A804HIJ8

Database IDs:

ARBA 22 Bgee 1 CTD 1 ChEBI 3 EMBL 8 Ensembl 2 GO 8 Gene3D 4 GeneTree 1 HGNC 1 InterPro 8 MaxQB 1 NCBI Taxonomy 1 PANTHER 2 PIRSR 2 PRINTS 3 PeptideAtlas 2 Pfam 4 Proteomes 2 RefSeq 1 RuleBase 1 SAM 2 SMART 2 SMR 1 SUPFAM 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 2168
  • Mass: 242819
  • Checksum: 8B4B3CE2A2E6B95E
  • Sequence:
    • MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM 
NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK 
KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED 
DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA 
ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH 
IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT 
VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI 
FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE 
NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN 
RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE 
MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI 
TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD 
NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA 
IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT 
ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK 
AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN 
HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA 
INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL 
FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT 
VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ 
EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL 
LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI 
VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL 
WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF 
RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL 
FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF 
GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK 
KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS 
LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY 
QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA 
NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE 
TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS 
ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR 
PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR 
VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT 
IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD 
SRVYVSSL

Genular Protein ID: 1394347940

Symbol: A0A804HI37_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A804HI37

Database IDs:

ARBA 22 Bgee 1 CTD 1 ChEBI 3 EMBL 8 Ensembl 2 GO 8 Gene3D 4 GeneTree 1 HGNC 1 InterPro 8 MaxQB 1 NCBI Taxonomy 1 PANTHER 2 PIRSR 2 PRINTS 3 PeptideAtlas 2 Pfam 4 Proteomes 2 RefSeq 1 RuleBase 1 SAM 2 SMART 2 SMR 1 SUPFAM 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 2168
  • Mass: 242681
  • Checksum: 7CD84435CCA5E1F3
  • Sequence:
    • MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM 
NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK 
KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED 
DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA 
ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH 
IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT 
VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI 
FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE 
NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN 
RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE 
MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI 
TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD 
NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA 
IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT 
ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK 
AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN 
HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA 
INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL 
FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT 
VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ 
EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL 
LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI 
VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL 
WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF 
RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL 
FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF 
GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK 
KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS 
LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY 
QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA 
NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE 
TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS 
ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR 
PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR 
VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT 
IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD 
SRVYVSSL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.