Details for: CASK

Gene ID: 8573

Symbol: CASK

Ensembl ID: ENSG00000147044

Description: calcium/calmodulin dependent serine protein kinase

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 424.6353
    Cell Significance Index: -66.0500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 258.0789
    Cell Significance Index: -65.4600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 141.1921
    Cell Significance Index: -66.6600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 131.6162
    Cell Significance Index: -53.4700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 99.5422
    Cell Significance Index: -66.8000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 53.5948
    Cell Significance Index: -66.0800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 23.5772
    Cell Significance Index: -63.1600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 16.8219
    Cell Significance Index: -66.3800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 16.6272
    Cell Significance Index: -36.3900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 15.8687
    Cell Significance Index: -48.7400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 4.3489
    Cell Significance Index: 1251.3200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 3.7511
    Cell Significance Index: 210.4900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 3.5288
    Cell Significance Index: 84.6300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 3.3696
    Cell Significance Index: 207.1100
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 2.8809
    Cell Significance Index: 30.0100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.6777
    Cell Significance Index: 531.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.4380
    Cell Significance Index: 489.0700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.2589
    Cell Significance Index: 85.5400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.2445
    Cell Significance Index: 805.0700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.0604
    Cell Significance Index: 57.5800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.9082
    Cell Significance Index: 207.5500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.8401
    Cell Significance Index: 81.3900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.8328
    Cell Significance Index: 1267.6500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.6537
    Cell Significance Index: 36.2100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.5214
    Cell Significance Index: 102.3000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.2835
    Cell Significance Index: 25.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2498
    Cell Significance Index: 203.2700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.1136
    Cell Significance Index: 32.0900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.0171
    Cell Significance Index: 26.1500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.8606
    Cell Significance Index: 24.5600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7940
    Cell Significance Index: 60.9300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7368
    Cell Significance Index: 665.2800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6487
    Cell Significance Index: 29.4100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6114
    Cell Significance Index: 110.2300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.6044
    Cell Significance Index: 1137.9600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4960
    Cell Significance Index: 60.9900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.4473
    Cell Significance Index: 284.0700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4033
    Cell Significance Index: 76.7500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3089
    Cell Significance Index: 168.7100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2767
    Cell Significance Index: 122.3300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.2353
    Cell Significance Index: 319.9100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2217
    Cell Significance Index: 3.8000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2090
    Cell Significance Index: 321.7100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.2073
    Cell Significance Index: 382.3500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1998
    Cell Significance Index: 19.7600
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.1496
    Cell Significance Index: 1.6300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1126
    Cell Significance Index: 5.2900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0908
    Cell Significance Index: 3.1900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0849
    Cell Significance Index: 38.5400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0591
    Cell Significance Index: 8.1200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0375
    Cell Significance Index: 1.7500
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.0234
    Cell Significance Index: 0.2100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0071
    Cell Significance Index: -5.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0114
    Cell Significance Index: -1.9400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0453
    Cell Significance Index: -33.5200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0558
    Cell Significance Index: -34.8700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0706
    Cell Significance Index: -53.4200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0736
    Cell Significance Index: -41.4800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0905
    Cell Significance Index: -1.3000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2010
    Cell Significance Index: -20.9300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2016
    Cell Significance Index: -4.3100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2082
    Cell Significance Index: -26.6900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2127
    Cell Significance Index: -5.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2189
    Cell Significance Index: -31.8200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2240
    Cell Significance Index: -47.1700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2351
    Cell Significance Index: -12.2500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2730
    Cell Significance Index: -14.1800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3160
    Cell Significance Index: -36.2100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3184
    Cell Significance Index: -22.5200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3250
    Cell Significance Index: -41.9900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3542
    Cell Significance Index: -41.2800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4080
    Cell Significance Index: -8.6900
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.4203
    Cell Significance Index: -4.2400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4304
    Cell Significance Index: -10.7600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.4461
    Cell Significance Index: -45.5700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4621
    Cell Significance Index: -14.8000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.5133
    Cell Significance Index: -60.5400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.5145
    Cell Significance Index: -58.7300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5453
    Cell Significance Index: -7.4400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.5691
    Cell Significance Index: -12.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.5822
    Cell Significance Index: -43.3900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5973
    Cell Significance Index: -47.3100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.6270
    Cell Significance Index: -39.5200
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.6380
    Cell Significance Index: -8.6100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.7308
    Cell Significance Index: -47.1500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.7322
    Cell Significance Index: -7.5800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.7348
    Cell Significance Index: -14.5300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.8177
    Cell Significance Index: -50.1300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.8549
    Cell Significance Index: -10.6600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8894
    Cell Significance Index: -29.1200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.9514
    Cell Significance Index: -49.9500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.9972
    Cell Significance Index: -31.7600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -1.0688
    Cell Significance Index: -13.4900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -1.1555
    Cell Significance Index: -24.5300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -1.1825
    Cell Significance Index: -23.7400
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -1.2608
    Cell Significance Index: -15.9100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -1.3164
    Cell Significance Index: -32.1200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.3291
    Cell Significance Index: -46.5600
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -1.3539
    Cell Significance Index: -11.0400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -1.3938
    Cell Significance Index: -19.9600

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** CASK is a calcium/calmodulin-dependent serine protein kinase, which means it is activated by the binding of calcium/calmodulin to its regulatory domain. This kinase has a unique structure, consisting of an N-terminal domain, a catalytic domain, and a C-terminal domain. The catalytic domain is responsible for phosphorylating serine and threonine residues on target proteins. CASK has a high degree of homology with other serine protein kinases, but its unique regulatory domain and substrate specificity set it apart from other kinases. **Pathways and Functions** CASK is involved in various signaling pathways, including: 1. **Neurotransmission**: CASK phosphorylates and regulates the activity of neurotransmitter receptors, such as NMDA receptors, which are essential for synaptic plasticity and learning. 2. **Cell adhesion**: CASK regulates cell adhesion molecules, such as nephrin and neurexin, which are crucial for maintaining tissue structure and function. 3. **Signaling**: CASK phosphorylates and regulates various signaling proteins, including transcription factors and kinases, to modulate cellular responses to growth factors and other signals. 4. **Synaptic vesicle exocytosis**: CASK regulates the release of neurotransmitters from synaptic vesicles, which is essential for synaptic transmission. **Clinical Significance** Dysregulation of CASK has been implicated in several neurological and developmental disorders, including: 1. **Neurodevelopmental disorders**: CASK mutations have been linked to autism spectrum disorder, intellectual disability, and other neurodevelopmental disorders. 2. **Neurodegenerative disorders**: CASK has been implicated in Alzheimer's disease, Parkinson's disease, and other neurodegenerative disorders. 3. **Malignant tumors**: CASK has been found to be overexpressed in certain types of cancer, including glioblastoma and ovarian cancer. In conclusion, CASK is a critical gene that plays a pivotal role in various cellular processes, including neurotransmission, cell adhesion, and signaling. Its dysregulation has been implicated in several neurological and developmental disorders, highlighting the importance of this gene in maintaining normal cellular function and preventing disease. Further research is needed to fully elucidate the functions and clinical significance of CASK.

Genular Protein ID: 994445425

Symbol: CSKP_HUMAN

Name: Calcium/calmodulin-dependent serine protein kinase

UniProtKB Accession Codes:

O14936 A6NES1 B7ZKY0 O43215 Q17RI4 Q59HA0 Q5VT16 Q5VT17 Q5VT18 Q5VT19 Q66T42 Q9BYH6 Q9NYB2 Q9NYB3

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 4 CORUM 1 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 ComplexPortal 3 DIP 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 2 DrugCentral 1 EC 2 ELM 1 EMBL 14 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 34 Gene3D 7 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 15 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 16 PDBsum 16 PRO 1 PROSITE 6 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 Pumba 1 RNAct 1 Reactome 7 RefSeq 3 Rhea 7 SABIO-RK 1 SIGNOR 1 SMART 4 SMR 1 STRING 1 SUPFAM 5 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 2 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9660868

Title: Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells.

PubMed ID: 9660868

DOI: 10.1083/jcb.142.1.129

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 11003712

Title: Mapping and expression analysis of the human CASK gene.

PubMed ID: 11003712

DOI: 10.1007/s003350010170

PubMed ID: 19012874

Title: Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.

PubMed ID: 19012874

DOI: 10.1016/j.ajhg.2008.10.020

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 9546224

Title: Crystal structure of the hCASK PDZ domain reveals the structural basis of class II PDZ domain target recognition.

PubMed ID: 9546224

DOI: 10.1038/nsb0498-317

PubMed ID: 18423203

Title: CASK functions as a Mg2+-independent neurexin kinase.

PubMed ID: 18423203

DOI: 10.1016/j.cell.2008.02.036

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 19165920

Title: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

PubMed ID: 19165920

DOI: 10.1038/ng.194

PubMed ID: 19200522

Title: A missense mutation in CASK causes FG syndrome in an Italian family.

PubMed ID: 19200522

DOI: 10.1016/j.ajhg.2008.12.018

PubMed ID: 19377476

Title: A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

PubMed ID: 19377476

DOI: 10.1038/ng.367

PubMed ID: 23662938

Title: Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PubMed ID: 23662938

DOI: 10.1111/epi.12203

Sequence Information:

  • Length: 926
  • Mass: 105123
  • Checksum: 6C02008CE52728BA
  • Sequence:
    • MADDDVLFED VYELCEVIGK GPFSVVRRCI NRETGQQFAV KIVDVAKFTS SPGLSTEDLK 
REASICHMLK HPHIVELLET YSSDGMLYMV FEFMDGADLC FEIVKRADAG FVYSEAVASH 
YMRQILEALR YCHDNNIIHR DVKPHCVLLA SKENSAPVKL GGFGVAIQLG ESGLVAGGRV 
GTPHFMAPEV VKREPYGKPV DVWGCGVILF ILLSGCLPFY GTKERLFEGI IKGKYKMNPR 
QWSHISESAK DLVRRMLMLD PAERITVYEA LNHPWLKERD RYAYKIHLPE TVEQLRKFNA 
RRKLKGAVLA AVSSHKFNSF YGDPPEELPD FSEDPTSSGL LAAERAVSQV LDSLEEIHAL 
TDCSEKDLDF LHSVFQDQHL HTLLDLYDKI NTKSSPQIRN PPSDAVQRAK EVLEEISCYP 
ENNDAKELKR ILTQPHFMAL LQTHDVVAHE VYSDEALRVT PPPTSPYLNG DSPESANGDM 
DMENVTRVRL VQFQKNTDEP MGITLKMNEL NHCIVARIMH GGMIHRQGTL HVGDEIREIN 
GISVANQTVE QLQKMLREMR GSITFKIVPS YRTQSSSCER DSPSTSRQSP ANGHSSTNNS 
VSDLPSTTQP KGRQIYVRAQ FEYDPAKDDL IPCKEAGIRF RVGDIIQIIS KDDHNWWQGK 
LENSKNGTAG LIPSPELQEW RVACIAMEKT KQEQQASCTW FGKKKKQYKD KYLAKHNAVF 
DQLDLVTYEE VVKLPAFKRK TLVLLGAHGV GRRHIKNTLI TKHPDRFAYP IPHTTRPPKK 
DEENGKNYYF VSHDQMMQDI SNNEYLEYGS HEDAMYGTKL ETIRKIHEQG LIAILDVEPQ 
ALKVLRTAEF APFVVFIAAP TITPGLNEDE SLQRLQKESD ILQRTYAHYF DLTIINNEID 
ETIRHLEEAV ELVCTAPQWV PVSWVY

Genular Protein ID: 1058850816

Symbol: A0A7I2RJN6_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A7I2RJN6

Database IDs:

ARBA 2 AlphaFoldDB 1 Bgee 1 CDD 4 CTD 1 DisGeNET 1 EMBL 7 Ensembl 2 GO 2 Gene3D 7 GeneTree 1 HGNC 1 InterPro 15 NCBI Taxonomy 1 PANTHER 2 PROSITE 11 PROSITE-ProRule 1 PeptideAtlas 2 Pfam 5 Proteomes 2 ProteomicsDB 1 RefSeq 1 SMART 4 SMR 1 SUPFAM 5

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: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

Sequence Information:

  • Length: 903
  • Mass: 102840
  • Checksum: 582CE0590A4D4C7D
  • Sequence:
    • MADDDVLFED VYELCEVIGK GPFSVVRRCI NRETGQQFAV KIVDVAKFTS SPGLSTEGKR 
WISNLKREAS ICHMLKHPHI VELLETYSSD GMLYMVFEFM DGADLCFEIV KRADAGFVYS 
EAVASHYMRQ ILEALRYCHD NNIIHRDVKP HCVLLASKEN SAPVKLGGFG VAIQLGESGL 
VAGGRVGTPH FMAPEVVKRE PYGKPVDVWG CGVILFILLS GCLPFYGTKE RLFEGIIKGK 
YKMNPRQWSH ISESAKDLVR RMLMLDPAER ITVYEALNHP WLKERDRYAY KIHLPETVEQ 
LRKFNARRKL KGAVLAAVSS HKFNSFYGDP PEELPDFSED PTSSGAVSQV LDSLEEIHAL 
TDCSEKDLDF LHSVFQDQHL HTLLDLYDKI NTKSSPQIRN PPSDAVQRAK EVLEEISCYP 
ENNDAKELKR ILTQPHFMAL LQTHDVVAHE VYSDEALRVT PPPTSPYLNG DSPESANGDM 
DMENVTRVRL VQFQKNTDEP MGITLKMNEL NHCIVARIMH GGMIHRQGTL HVGDEIREIN 
GISVANQTVE QLQKMLREMR GSITFKIVPS YRTQSSSCED LPSTTQPKGR QIYVRAQFEY 
DPAKDDLIPC KEAGIRFRVG DIIQIISKDD HNWWQGKLEN SKNGTAGLIP SPELQEWRVA 
CIAMEKTKQE QQASCTWFGK KKKQYKDKYL AKHNAVFDQL DLVTYEEVVK LPAFKRKTLV 
LLGAHGVGRR HIKNTLITKH PDRFAYPIPH TTRPPKKDEE NGKNYYFVSH DQMMQDISNN 
EYLEYGSHED AMYGTKLETI RKIHEQGLIA ILDVEPQALK VLRTAEFAPF VVFIAAPTIT 
PGLNEDESLQ RLQKESDILQ RTYAHYFDLT IINNEIDETI RHLEEAVELV CTAPQWVPVS 
WVY

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.