Details for: CACNA1D

Gene ID: 776

Symbol: CACNA1D

Ensembl ID: ENSG00000157388

Description: calcium voltage-gated channel subunit alpha1 D

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 161.3289
    Cell Significance Index: -40.9200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 81.6970
    Cell Significance Index: -33.1900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 34.8418
    Cell Significance Index: -33.2700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.1034
    Cell Significance Index: -40.4600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 7.7196
    Cell Significance Index: 1122.1300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 5.7415
    Cell Significance Index: 153.8500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.9879
    Cell Significance Index: 1430.3800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 3.5282
    Cell Significance Index: 156.0600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 3.4299
    Cell Significance Index: 129.8800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 3.2852
    Cell Significance Index: 220.9000
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 3.1446
    Cell Significance Index: 40.7800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.8816
    Cell Significance Index: 578.0400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.5068
    Cell Significance Index: 71.5400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.4672
    Cell Significance Index: 71.0900
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 2.3368
    Cell Significance Index: 1.6700
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 2.1597
    Cell Significance Index: 28.8100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.1564
    Cell Significance Index: 1491.4700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.5406
    Cell Significance Index: 38.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.3863
    Cell Significance Index: 275.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.1859
    Cell Significance Index: 72.8900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.0099
    Cell Significance Index: 21.8800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.9988
    Cell Significance Index: 634.3500
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.7980
    Cell Significance Index: 8.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6743
    Cell Significance Index: 109.6800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6336
    Cell Significance Index: 68.9100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5155
    Cell Significance Index: 30.9500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4889
    Cell Significance Index: 6.6700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.4849
    Cell Significance Index: 11.6300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4423
    Cell Significance Index: 20.0500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4287
    Cell Significance Index: 22.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3280
    Cell Significance Index: 32.4500
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.2933
    Cell Significance Index: 4.1800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2764
    Cell Significance Index: 249.5700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2513
    Cell Significance Index: 8.8300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.2268
    Cell Significance Index: 4.7100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1698
    Cell Significance Index: 2.9100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1604
    Cell Significance Index: 11.1000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1603
    Cell Significance Index: 301.7600
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.1580
    Cell Significance Index: 2.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1390
    Cell Significance Index: 25.0700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0942
    Cell Significance Index: 11.5900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0816
    Cell Significance Index: 15.5300
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.0789
    Cell Significance Index: 0.8700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0351
    Cell Significance Index: 47.7900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.0278
    Cell Significance Index: 0.5900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0036
    Cell Significance Index: 6.5500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0001
    Cell Significance Index: -0.2100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0040
    Cell Significance Index: -2.2700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0059
    Cell Significance Index: -4.3600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0076
    Cell Significance Index: -0.1500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0172
    Cell Significance Index: -10.7100
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: -0.0266
    Cell Significance Index: -0.2200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0359
    Cell Significance Index: -16.3100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0385
    Cell Significance Index: -28.2400
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0462
    Cell Significance Index: -0.4400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0506
    Cell Significance Index: -27.6500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0536
    Cell Significance Index: -3.0100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0548
    Cell Significance Index: -41.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0658
    Cell Significance Index: -13.8600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0800
    Cell Significance Index: -35.3900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0889
    Cell Significance Index: -12.2100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0928
    Cell Significance Index: -15.8400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1010
    Cell Significance Index: -1.2600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1029
    Cell Significance Index: -7.9000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1131
    Cell Significance Index: -32.5400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1142
    Cell Significance Index: -1.6400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1338
    Cell Significance Index: -15.3300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1345
    Cell Significance Index: -3.7600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1391
    Cell Significance Index: -8.7700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1547
    Cell Significance Index: -5.0700
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2038
    Cell Significance Index: -2.2200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2176
    Cell Significance Index: -6.9300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2212
    Cell Significance Index: -2.2900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2220
    Cell Significance Index: -22.6800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2775
    Cell Significance Index: -32.3400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2801
    Cell Significance Index: -8.9700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2926
    Cell Significance Index: -37.8100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2935
    Cell Significance Index: -6.2500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3209
    Cell Significance Index: -36.6300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3282
    Cell Significance Index: -17.2300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3431
    Cell Significance Index: -4.3300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3445
    Cell Significance Index: -40.6300
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.3579
    Cell Significance Index: -4.2800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3601
    Cell Significance Index: -15.6600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.3621
    Cell Significance Index: -46.4200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3691
    Cell Significance Index: -27.5100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3759
    Cell Significance Index: -39.1400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3996
    Cell Significance Index: -8.7500
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.4003
    Cell Significance Index: -6.0900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4166
    Cell Significance Index: -9.0000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4216
    Cell Significance Index: -25.8500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4702
    Cell Significance Index: -37.2400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.4829
    Cell Significance Index: -5.9900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.4851
    Cell Significance Index: -12.1000
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.5000
    Cell Significance Index: -6.3100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5164
    Cell Significance Index: -13.2800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5300
    Cell Significance Index: -24.7100
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.5409
    Cell Significance Index: -11.2900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.5427
    Cell Significance Index: -8.0100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The CACNA1D gene exhibits several distinct characteristics, including: 1. **Voltage-gated calcium channel activity**: The CACNA1D gene encodes for the alpha1D subunit of the L-type voltage-gated calcium channel, which is responsible for regulating calcium ion influx into cardiac muscle cells. 2. **High voltage-gated calcium channel activity**: The CACNA1D gene is involved in high voltage-gated calcium channel activity, which is essential for cardiac muscle cell contraction and repolarization. 3. **Regulation of cardiac muscle cell action potential**: The CACNA1D gene plays a crucial role in regulating the cardiac muscle cell action potential, which is essential for maintaining cardiac function. 4. **Regulation of insulin secretion**: The CACNA1D gene is involved in regulating insulin secretion, which is critical for maintaining glucose homeostasis. **Pathways and Functions** The CACNA1D gene is involved in multiple signaling pathways, including: 1. **Adenylate cyclase-modulating g protein-coupled receptor signaling pathway**: The CACNA1D gene regulates adenylate cyclase activity, which is essential for maintaining cardiac function and regulating insulin secretion. 2. **Calcium channel activity**: The CACNA1D gene is involved in regulating calcium channel activity, which is critical for maintaining cardiac function and regulating insulin secretion. 3. **Axon guidance**: The CACNA1D gene is involved in axon guidance, which is essential for establishing neural connections. 4. **Regulation of atrial cardiac muscle cell membrane repolarization**: The CACNA1D gene regulates atrial cardiac muscle cell membrane repolarization, which is essential for maintaining cardiac function. **Clinical Significance** The CACNA1D gene has significant clinical implications, including: 1. **Cardiac arrhythmias**: Mutations in the CACNA1D gene have been associated with cardiac arrhythmias, including atrial fibrillation and ventricular tachycardia. 2. **Hypertension**: The CACNA1D gene is involved in regulating blood pressure, and mutations in the gene have been associated with hypertension. 3. **Insulin secretion disorders**: The CACNA1D gene regulates insulin secretion, and mutations in the gene have been associated with insulin secretion disorders, including type 2 diabetes. 4. **Sensory perception disorders**: The CACNA1D gene is involved in regulating sensory perception, and mutations in the gene have been associated with sensory perception disorders, including hearing loss and tinnitus. In conclusion, the CACNA1D gene is a crucial component of the L-type voltage-gated calcium channel complex, and its dysregulation has significant implications for cardiac function, insulin secretion, and sensory perception. Further research is necessary to fully understand the complex mechanisms underlying CACNA1D gene function and its clinical significance.

Genular Protein ID: 3360881362

Symbol: CAC1D_HUMAN

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

UniProtKB Accession Codes:

Q01668 B0FYA3 Q13916 Q13931 Q71UT1 Q9UDC3

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChEBI 3 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 39 DrugCentral 1 EMBL 9 EMDB 5 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 26 Gene3D 4 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 1 PRINTS 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 4 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1309651

Title: Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.

PubMed ID: 1309651

DOI: 10.1016/0896-6273(92)90109-q

PubMed ID: 1309948

Title: Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells.

PubMed ID: 1309948

DOI: 10.1073/pnas.89.2.584

PubMed ID: 7557998

Title: The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes.

PubMed ID: 7557998

DOI: 10.1006/geno.1995.1048

PubMed ID: 18482979

Title: Modulation of voltage- and Ca2+-dependent gating of CaV1.3 L-type calcium channels by alternative splicing of a C-terminal regulatory domain.

PubMed ID: 18482979

DOI: 10.1074/jbc.m802254200

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 9894156

Title: Genomic structure of the regulatory region of the voltage-gated calcium channel alpha 1D.

PubMed ID: 9894156

DOI: 10.1038/emm.1998.36

PubMed ID: 1335101

Title: Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma.

PubMed ID: 1335101

DOI: 10.1016/s0025-6196(12)61144-6

PubMed ID: 21280120

Title: Loss of recognition by cross-reactive T cells and its relation to a C-terminus-induced conformational reorientation of an HLA-B*2705-bound peptide.

PubMed ID: 21280120

DOI: 10.1002/pro.559

PubMed ID: 21131953

Title: Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

PubMed ID: 21131953

DOI: 10.1038/nn.2694

PubMed ID: 22495309

Title: Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PubMed ID: 22495309

DOI: 10.1038/nature10989

PubMed ID: 22542183

Title: De novo gene disruptions in children on the autistic spectrum.

PubMed ID: 22542183

DOI: 10.1016/j.neuron.2012.04.009

PubMed ID: 23913001

Title: Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

PubMed ID: 23913001

DOI: 10.1038/ng.2695

PubMed ID: 25620733

Title: CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.

PubMed ID: 25620733

DOI: 10.1016/j.biopsych.2014.11.020

PubMed ID: 28472301

Title: New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.

PubMed ID: 28472301

DOI: 10.1093/hmg/ddx175

Sequence Information:

  • Length: 2161
  • Mass: 245141
  • Checksum: 31B0ADFCDB30B575
  • Sequence:
    • MMMMMMMKKM QHQRQQQADH ANEANYARGT RLPLSGEGPT SQPNSSKQTV LSWQAAIDAA 
RQAKAAQTMS TSAPPPVGSL SQRKRQQYAK SKKQGNSSNS RPARALFCLS LNNPIRRACI 
SIVEWKPFDI FILLAIFANC VALAIYIPFP EDDSNSTNHN LEKVEYAFLI IFTVETFLKI 
IAYGLLLHPN AYVRNGWNLL DFVIVIVGLF SVILEQLTKE TEGGNHSSGK SGGFDVKALR 
AFRVLRPLRL VSGVPSLQVV LNSIIKAMVP LLHIALLVLF VIIIYAIIGL ELFIGKMHKT 
CFFADSDIVA EEDPAPCAFS GNGRQCTANG TECRSGWVGP NGGITNFDNF AFAMLTVFQC 
ITMEGWTDVL YWMNDAMGFE LPWVYFVSLV IFGSFFVLNL VLGVLSGEFS KEREKAKARG 
DFQKLREKQQ LEEDLKGYLD WITQAEDIDP ENEEEGGEEG KRNTSMPTSE TESVNTENVS 
GEGENRGCCG SLCQAISKSK LSRRWRRWNR FNRRRCRAAV KSVTFYWLVI VLVFLNTLTI 
SSEHYNQPDW LTQIQDIANK VLLALFTCEM LVKMYSLGLQ AYFVSLFNRF DCFVVCGGIT 
ETILVELEIM SPLGISVFRC VRLLRIFKVT RHWTSLSNLV ASLLNSMKSI ASLLLLLFLF 
IIIFSLLGMQ LFGGKFNFDE TQTKRSTFDN FPQALLTVFQ ILTGEDWNAV MYDGIMAYGG 
PSSSGMIVCI YFIILFICGN YILLNVFLAI AVDNLADAES LNTAQKEEAE EKERKKIARK 
ESLENKKNNK PEVNQIANSD NKVTIDDYRE EDEDKDPYPP CDVPVGEEEE EEEEDEPEVP 
AGPRPRRISE LNMKEKIAPI PEGSAFFILS KTNPIRVGCH KLINHHIFTN LILVFIMLSS 
AALAAEDPIR SHSFRNTILG YFDYAFTAIF TVEILLKMTT FGAFLHKGAF CRNYFNLLDM 
LVVGVSLVSF GIQSSAISVV KILRVLRVLR PLRAINRAKG LKHVVQCVFV AIRTIGNIMI 
VTTLLQFMFA CIGVQLFKGK FYRCTDEAKS NPEECRGLFI LYKDGDVDSP VVRERIWQNS 
DFNFDNVLSA MMALFTVSTF EGWPALLYKA IDSNGENIGP IYNHRVEISI FFIIYIIIVA 
FFMMNIFVGF VIVTFQEQGE KEYKNCELDK NQRQCVEYAL KARPLRRYIP KNPYQYKFWY 
VVNSSPFEYM MFVLIMLNTL CLAMQHYEQS KMFNDAMDIL NMVFTGVFTV EMVLKVIAFK 
PKGYFSDAWN TFDSLIVIGS IIDVALSEAD PTESENVPVP TATPGNSEES NRISITFFRL 
FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIAML FFIYAVIGMQ MFGKVAMRDN 
NQINRNNNFQ TFPQAVLLLF RCATGEAWQE IMLACLPGKL CDPESDYNPG EEYTCGSNFA 
IVYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWS EYDPEAKGRI 
KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVAMNMPLNS DGTVMFNATL FALVRTALKI 
KTEGNLEQAN EELRAVIKKI WKKTSMKLLD QVVPPAGDDE VTVGKFYATF LIQDYFRKFK 
KRKEQGLVGK YPAKNTTIAL QAGLRTLHDI GPEIRRAISC DLQDDEPEET KREEEDDVFK 
RNGALLGNHV NHVNSDRRDS LQQTNTTHRP LHVQRPSIPP ASDTEKPLFP PAGNSVCHNH 
HNHNSIGKQV PTSTNANLNN ANMSKAAHGK RPSIGNLEHV SENGHHSSHK HDREPQRRSS 
VKRTRYYETY IRSDSGDEQL PTICREDPEI HGYFRDPHCL GEQEYFSSEE CYEDDSSPTW 
SRQNYGYYSR YPGRNIDSER PRGYHHPQGF LEDDDSPVCY DSRRSPRRRL LPPTPASHRR 
SSFNFECLRR QSSQEEVPSS PIFPHRTALP LHLMQQQIMA VAGLDSSKAQ KYSPSHSTRS 
WATPPATPPY RDWTPCYTPL IQVEQSEALD QVNGSLPSLH RSSWYTDEPD ISYRTFTPAS 
LTVPSSFRNK NSDKQRSADS LVEAVLISEG LGRYARDPKF VSATKHEIAD ACDLTIDEME 
SAASTLLNGN VRPRANGDVG PLSHRQDYEL QDFGPGYSDE EPDPGRDEED LADEMICITT 
L

Genular Protein ID: 3566809199

Symbol: Q59GD8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59GD8

Database IDs:

ARBA 13 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 3 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 3 Gene3D 4 InterPro 8 KEGG 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 2 PRINTS 2 PeptideAtlas 1 Pfam 4 PharmGKB 1 ProteomicsDB 1 RefSeq 2 RuleBase 1 SMART 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Sequence Information:

  • Length: 1854
  • Mass: 211464
  • Checksum: 73DE6B07DF531A39
  • Sequence:
    • ANGTECRSGW VGPNGGITNF DNFAFAMLTV FQCITMEGWT DVLYWMNDAM GFELPWVYFV 
SLVIFGSFFV LNLVLGVLSG EFSKEREKAK ARGDFQKLRE KQQLEEDLKG YLDWITQAED 
IDPENEEEGG EEGKRNTSMP TSETESVNTE NVSGEGENRG CCGSLWCWWR RRGAAKAGPS 
GCRRWGQAIS KSKLSRRWRR WNRFNRRRCR AAVKSVTFYW LVIVLVFLNT LTISSEHYNQ 
PDWLTQIQDI ANKVLLALFT CEMLVKMYSL GLQAYFVSLF NRFDCFVVCG GITETILVEL 
EIMSPLGISV FRCVRLLRIF KVTRHWTSLS NLVASLLNSM KSIASLLLLL FLFIIIFSLL 
GMQLFGGKFN FDETQTKRST FDNFPQALLT VFQILTGEDW NAVMYDGIMA YGGPSSSGMI 
VCIYFIILFI CGNYILLNVF LAIAVDNLAD AESLNTAQKE EAEEKERKKI ARKESLENKK 
NNKPEVNQIA NSDNKVTIDD YREEDEDKDP YPPCDVPVGE EEEEEEEDEP EVPAGPRPRR 
ISELNMKEKI APIPEGSAFF ILSKTNPIRV GCHKLINHHI FTNLILVFIM LSSAALAAED 
PIRSHSFRNT ILGYFDYAFT AIFTVEILLK MTTFGAFLHK GAFCRNYFNL LDMLVVGVSL 
VSFGIQSSAI SVVKILRVLR VLRPLRAINR AKGLKHVVQC VFVAIRTIGN IMIVTTLLQF 
MFACIGVQLF KGKFYRCTDE AKSNPEECRG LFILYKDGDV DSPVVRERIW QNSDFNFDNV 
LSAMMALFTV STFEGWPALL YKAIDSNGEN IGPIYNHRVE ISIFFIIYII IVAFFMMNIF 
VGFVIVTFQE QGEKEYKNCE LDKNQRQCVE YALKARPLRR YIPKNPYQYK FWYVVNSSPF 
EYMMFVLIML NTLCLAMQHY EQSKMFNDAM DILNMVFTGV FTVEMVLKVI AFKPKHYFTD 
AWNTFDALIV VGSVVDIAIT EVNPTESENV PVPTATPGNS EESNRISITF FRLFRVMRLV 
KLLSRGEGIR TLLWTFIKSF QALPYVALLI AMLFFIYAVI GMQMFGKVAM RDNNQINRNN 
NFQTFPQAVL LLFRCATGEA WQEIMLACLP GKLCDPESDY NPGEEYTCGS NFAIVYFISF 
YMLCAFLIIN LFVAVIMDNF DYLTRDWSIL GPHHLDEFKR IWSEYDPEAK GRIKHLDVVT 
LLRRIQPPLG FGKLCPHRVA CKRLVAMNMP LNSDGTVMFN ATLFALVRTA LKIKTEGNLE 
QANEELRAVI KKIWKKTSMK LLDQVVPPAG DDEVTVGKFY ATFLIQDYFR KFKKRKEQGL 
VGKYPAKNTT IALQAGLRTL HDIGPEIRRA ISCDLQDDEP EETKREEEDD VFKRNGALLG 
NHVNHVNSDR RDSLQQTNTT HRPLHVQRPS IPPASDTEKP LFPPAGNSVC HNHHNHNSIG 
KQVPTSTNAN LNNANMSKAA HGKRPSIGNL EHVSENGHHS SHKHDREPQR RSSVKRTRYY 
ETYIRSDSGD EQLPTICRED PEIHGYFRDP HCLGEQEYFS SEECYEDDSS PTWSRQNYGY 
YSRYPGRNID SERPRGYHHP QGFLEDDDSP VCYDSRRSPR RRLLPPTPAS HRRSSFNFEC 
LRRQSSQEEV PSSPIFPHRT ALPLHLMQQQ IMAVAGLDSS KAQKYSPSHS TRSWATPPAT 
PPYRDWTPCY TPLIQVEQSE ALDQVNGSLP SLHRSSWYTD EPDISYRTFT PASLTVPSSF 
RNKNSDKQRS ADSLVEAVLI SEGLGRYARD PKFVSATKHE IADACDLTID EMESAASTLL 
NGNVRPRANG DVGPLSHRQD YELQDFGPGY SDEEPDPGRD EEDLADEMIC ITTL

Genular Protein ID: 3201312509

Symbol: A0A1B0GUN6_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A1B0GUN6

Database IDs:

ARBA 14 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 3 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 3 Gene3D 4 GeneTree 1 HGNC 1 InterPro 9 MassIVE 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 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

Sequence Information:

  • Length: 2146
  • Mass: 243705
  • Checksum: FE9180FDE7745CC5
  • Sequence:
    • MMMMMMMKKM QHQRQQQADH ANEANYARGT RLPLSGEGPT SQPNSSKQTV LSWQAAIDAA 
RQAKAAQTMS TSAPPPVGSL SQRKRQQYAK SKKQGNSSNS RPARALFCLS LNNPIRRACI 
SIVEWKPFDI FILLAIFANC VALAIYIPFP EDDSNSTNHN LEKVEYAFLI IFTVETFLKI 
IAYGLLLHPN AYVRNGWNLL DFVIVIVGLF SVILEQLTKE TEGGNHSSGK SGGFDVKALR 
AFRVLRPLRL VSGVPSLQVV LNSIIKAMVP LLHIALLVLF VIIIYAIIGL ELFIGKMHKT 
CFFADSDIVA EEDPAPCAFS GNGRQCTANG TECRSGWVGP NGGITNFDNF AFAMLTVFQC 
ITMEGWTDVL YWVNDAIGWE WPWVYFVSLI ILGSFFVLNL VLGVLSGEFS KEREKAKARG 
DFQKLREKQQ LEEDLKGYLD WITQAEDIDP ENEEEGGEEG KRNTSMPTSE TESVNTENVS 
GEGENRGCCG SLCQAISKSK LSRRWRRWNR FNRRRCRAAV KSVTFYWLVI VLVFLNTLTI 
SSEHYNQPDW LTQIQDIANK VLLALFTCEM LVKMYSLGLQ AYFVSLFNRF DCFVVCGGIT 
ETILVELEIM SPLGISVFRC VRLLRIFKVT RHWTSLSNLV ASLLNSMKSI ASLLLLLFLF 
IIIFSLLGMQ LFGGKFNFDE TQTKRSTFDN FPQALLTVFQ ILTGEDWNAV MYDGIMAYGG 
PSSSGMIVCI YFIILFICGN YILLNVFLAI AVDNLADAES LNTAQKEEAE EKERKKIARK 
ESLENKKNNK PEVNQIANSD NKVTIDDYRE EDEDKDPYPP CDVPVGEEEE EEEEDEPEVP 
AGPRPRRISE LNMKEKIAPI PEGSAFFILS KTNPIRVGCH KLINHHIFTN LILVFIMLSS 
AALAAEDPIR SHSFRNTILG YFDYAFTAIF TVEILLKMTT FGAFLHKGAF CRNYFNLLDM 
LVVGVSLVSF GIQSSAISVV KILRVLRVLR PLRAINRAKG LKHVVQCVFV AIRTIGNIMI 
VTTLLQFMFA CIGVQLFKGK FYRCTDEAKS NPEECRGLFI LYKDGDVDSP VVRERIWQNS 
DFNFDNVLSA MMALFTVSTF EGWPALLYKA IDSNGENIGP IYNHRVEISI FFIIYIIIVA 
FFMMNIFVGF VIVTFQEQGE KEYKNCELDK NQRQCVEYAL KARPLRRYIP KNPYQYKFWY 
VVNSSPFEYM MFVLIMLNTL CLAMQHYEQS KMFNDAMDIL NMVFTGVFTV EMVLKVIAFK 
PKGYFSDAWN TFDSLIVIGS IIDVALSEAD NSEESNRISI TFFRLFRVMR LVKLLSRGEG 
IRTLLWTFIK SFQALPYVAL LIAMLFFIYA VIGMQMFGKV AMRDNNQINR NNNFQTFPQA 
VLLLFRCATG EAWQEIMLAC LPGKLCDPES DYNPGEEYTC GSNFAIVYFI SFYMLCAFLI 
INLFVAVIMD NFDYLTRDWS ILGPHHLDEF KRIWSEYDPE AKGRIKHLDV VTLLRRIQPP 
LGFGKLCPHR VACKRLVAMN MPLNSDGTVM FNATLFALVR TALKIKTEGN LEQANEELRA 
VIKKIWKKTS MKLLDQVVPP AGDDEVTVGK FYATFLIQDY FRKFKKRKEQ GLVGKYPAKN 
TTIALQAGLR TLHDIGPEIR RAISCDLQDD EPEETKREEE DDVFKRNGAL LGNHVNHVNS 
DRRDSLQQTN TTHRPLHVQR PSIPPASDTE KPLFPPAGNS VCHNHHNHNS IGKQVPTSTN 
ANLNNANMSK AAHGKRPSIG NLEHVSENGH HSSHKHDREP QRRSSVKRTR YYETYIRSDS 
GDEQLPTICR EDPEIHGYFR DPHCLGEQEY FSSEECYEDD SSPTWSRQNY GYYSRYPGRN 
IDSERPRGYH HPQGFLEDDD SPVCYDSRRS PRRRLLPPTP ASHRRSSFNF ECLRRQSSQE 
EVPSSPIFPH RTALPLHLMQ QQIMAVAGLD SSKAQKYSPS HSTRSWATPP ATPPYRDWTP 
CYTPLIQVEQ SEALDQVNGS LPSLHRSSWY TDEPDISYRT FTPASLTVPS SFRNKNSDKQ 
RSADSLVEAV LISEGLGRYA RDPKFVSATK HEIADACDLT IDEMESAAST LLNGNVRPRA 
NGDVGPLSHR QDYELQDFGP GYSDEEPDPG RDEEDLADEM ICITTL

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.