Details for: COL6A3

Gene ID: 1293

Symbol: COL6A3

Ensembl ID: ENSG00000163359

Description: collagen type VI alpha 3 chain

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: 120.0615
    Cell Significance Index: -18.6800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 74.3169
    Cell Significance Index: -18.8500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 37.6609
    Cell Significance Index: -15.3000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 37.0031
    Cell Significance Index: -17.4700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 21.1556
    Cell Significance Index: 143.3400
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 16.0561
    Cell Significance Index: 99.3400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.0305
    Cell Significance Index: -15.3100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.2155
    Cell Significance Index: -18.7600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 9.4275
    Cell Significance Index: 120.7400
  • Cell Name: theca cell (CL0000503)
    Fold Change: 8.4834
    Cell Significance Index: 49.8400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 7.7634
    Cell Significance Index: 151.5200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 6.1136
    Cell Significance Index: 175.2500
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 6.0790
    Cell Significance Index: 87.3000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.7212
    Cell Significance Index: -18.6300
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 4.1752
    Cell Significance Index: 21.9700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 3.8448
    Cell Significance Index: 194.3100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.6904
    Cell Significance Index: -11.3400
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 3.6693
    Cell Significance Index: 23.0800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.0009
    Cell Significance Index: 412.1100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.5827
    Cell Significance Index: 54.0600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.8903
    Cell Significance Index: 20.5500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.7626
    Cell Significance Index: 27.2700
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.7133
    Cell Significance Index: 14.1700
  • Cell Name: fibroblast of the aortic adventitia (CL0002547)
    Fold Change: 1.3615
    Cell Significance Index: 13.7400
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 1.0536
    Cell Significance Index: 5.0400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.0440
    Cell Significance Index: 22.3200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.7498
    Cell Significance Index: 50.4200
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.6496
    Cell Significance Index: 1.5000
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 0.5350
    Cell Significance Index: 2.4700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.4347
    Cell Significance Index: 7.2800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3954
    Cell Significance Index: 50.6900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.3665
    Cell Significance Index: 41.8400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3491
    Cell Significance Index: 26.7900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3216
    Cell Significance Index: 61.2100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3005
    Cell Significance Index: 13.6200
  • Cell Name: chondroblast (CL0000058)
    Fold Change: 0.2027
    Cell Significance Index: 1.1900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1987
    Cell Significance Index: 19.6600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1900
    Cell Significance Index: 171.5800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1765
    Cell Significance Index: 6.1400
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.1129
    Cell Significance Index: 1.0300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1001
    Cell Significance Index: 16.2900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0865
    Cell Significance Index: 15.5900
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.0144
    Cell Significance Index: 0.0900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.0024
    Cell Significance Index: 0.0200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0039
    Cell Significance Index: -2.9000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0057
    Cell Significance Index: -0.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0063
    Cell Significance Index: -11.9100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0079
    Cell Significance Index: -4.9600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0092
    Cell Significance Index: -16.9800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0113
    Cell Significance Index: -17.3400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0125
    Cell Significance Index: -0.4400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0131
    Cell Significance Index: -17.8400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0142
    Cell Significance Index: -1.6500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0166
    Cell Significance Index: -9.3400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0186
    Cell Significance Index: -8.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0204
    Cell Significance Index: -15.4500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0230
    Cell Significance Index: -12.5700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0238
    Cell Significance Index: -17.4600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0239
    Cell Significance Index: -15.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0298
    Cell Significance Index: -5.0900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0313
    Cell Significance Index: -6.2800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0321
    Cell Significance Index: -14.5500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0352
    Cell Significance Index: -6.9800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0373
    Cell Significance Index: -13.3700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0374
    Cell Significance Index: -3.8200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0378
    Cell Significance Index: -1.0900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0391
    Cell Significance Index: -8.2400
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0405
    Cell Significance Index: -0.3900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0544
    Cell Significance Index: -1.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0608
    Cell Significance Index: -17.4800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0764
    Cell Significance Index: -9.4000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1019
    Cell Significance Index: -2.7200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1133
    Cell Significance Index: -16.4700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1223
    Cell Significance Index: -2.6500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1230
    Cell Significance Index: -3.9400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1269
    Cell Significance Index: -5.9700
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.1322
    Cell Significance Index: -0.8100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1325
    Cell Significance Index: -9.1700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1379
    Cell Significance Index: -17.8100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1444
    Cell Significance Index: -16.5400
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.1493
    Cell Significance Index: -0.6500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1624
    Cell Significance Index: -19.1600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1759
    Cell Significance Index: -18.3200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1773
    Cell Significance Index: -12.5400
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.1818
    Cell Significance Index: -1.7300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1832
    Cell Significance Index: -3.8000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1869
    Cell Significance Index: -9.7400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1918
    Cell Significance Index: -11.7600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1936
    Cell Significance Index: -11.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2015
    Cell Significance Index: -9.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2205
    Cell Significance Index: -17.4600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2301
    Cell Significance Index: -3.6500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2313
    Cell Significance Index: -17.2400
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: -0.2394
    Cell Significance Index: -3.0200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2597
    Cell Significance Index: -6.8300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2670
    Cell Significance Index: -16.8300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2863
    Cell Significance Index: -18.4700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3019
    Cell Significance Index: -7.7600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3143
    Cell Significance Index: -19.3200
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.3300
    Cell Significance Index: -5.0200

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:** 1. **Structure:** Collagen VI is a homotrimeric protein composed of three alpha-3 chains that interact to form a collagen fibril. 2. **Expression:** COL6A3 is expressed in various cell types, including skeletal muscle fibroblasts, alveolar type 2 fibroblasts, and mesenchymal stem cells. 3. **Function:** Collagen VI plays a crucial role in maintaining tissue structure and integrity by forming a network of collagen fibrils that interact with other ECM components. 4. **Pathways:** COL6A3 is involved in various signaling pathways, including axon guidance, cell adhesion, and integrin cell surface interactions. **Pathways and Functions:** 1. **Assembly of Collagen Fibrils:** COL6A3 plays a crucial role in the assembly of collagen fibrils, which are essential for maintaining tissue structure and integrity. 2. **Cell Adhesion:** Collagen VI interacts with other ECM components to form a network of collagen fibrils that facilitate cell adhesion and migration. 3. **Axon Guidance:** COL6A3 is involved in axon guidance, a process that regulates the growth and migration of axons during neural development. 4. **Extracellular Matrix Organization:** COL6A3 helps to organize the ECM, which is essential for maintaining tissue structure and function. 5. **Cell Signaling:** COL6A3 is involved in various cell signaling pathways, including phosphatidylinositol 3-kinase/protein kinase B signal transduction and receptor tyrosine kinase signaling. **Clinical Significance:** 1. **Fibrosis:** Dysregulation of COL6A3 has been implicated in various fibrotic diseases, including pulmonary fibrosis, liver fibrosis, and cardiovascular fibrosis. 2. **Cancer:** COL6A3 has been found to be overexpressed in various types of cancer, including breast cancer, lung cancer, and colon cancer. 3. **Cardiovascular Disorders:** COL6A3 has been implicated in cardiovascular disorders, including atherosclerosis and cardiovascular fibrosis. 4. **Muscular Disorders:** COL6A3 has been found to be associated with various muscular disorders, including muscular dystrophy and myopathies. In conclusion, COL6A3 is a crucial gene that plays a vital role in maintaining tissue structure and integrity. Its dysregulation has been implicated in various diseases, including fibrosis, cancer, and cardiovascular disorders. Further research is needed to fully understand the functional significance of COL6A3 and its role in human disease.

Genular Protein ID: 1320255431

Symbol: CO6A3_HUMAN

Name: Collagen alpha-3(VI) chain

UniProtKB Accession Codes:

P12111 A8MT30 B4E3U5 B7ZMJ7 E9PFQ6 E9PGQ9 Q16501 Q53QF4 Q53QF6

Database IDs:

AGR 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 5 CDD 4 CORUM 1 CPTAC 1 CTD 1 CarbonylDB 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 11 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MEROPS 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 1 PRINTS 2 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 RNAct 1 Reactome 8 RefSeq 6 SASBDB 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1689238

Title: Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors.

PubMed ID: 1689238

DOI: 10.1002/j.1460-2075.1990.tb08122.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 1339440

Title: The human type VI collagen gene. mRNA and protein variants of the alpha 3 chain generated by alternative splicing of an additional 5-end exon.

PubMed ID: 1339440

DOI: 10.1016/s0021-9258(18)35949-0

PubMed ID: 3198591

Title: Amino acid sequence of the triple-helical domain of human collagen type VI.

PubMed ID: 3198591

DOI: 10.1016/s0021-9258(18)37327-7

PubMed ID: 3665927

Title: Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones.

PubMed ID: 3665927

DOI: 10.1111/j.1432-1033.1987.tb13422.x

PubMed ID: 3348212

Title: Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

PubMed ID: 3348212

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

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: 26004199

Title: Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

PubMed ID: 26004199

DOI: 10.1016/j.ajhg.2015.04.010

PubMed ID: 7533217

Title: The 1.6 A structure of Kunitz-type domain from the alpha 3 chain of human type VI collagen.

PubMed ID: 7533217

DOI: 10.1016/s0022-2836(05)80110-x

PubMed ID: 8805527

Title: Structure and multiple conformations of the Kunitz-type domain from human type VI collagen alpha3(VI) chain in solution.

PubMed ID: 8805527

DOI: 10.1016/s0969-2126(96)00022-6

PubMed ID: 9265624

Title: Solution structure and backbone dynamics of the human alpha3-chain type VI collagen C-terminal Kunitz domain.

PubMed ID: 9265624

DOI: 10.1021/bi9705570

PubMed ID: 11992252

Title: Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

PubMed ID: 11992252

DOI: 10.1086/340608

PubMed ID: 9536084

Title: Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.

PubMed ID: 9536084

DOI: 10.1093/hmg/7.5.807

PubMed ID: 10399756

Title: A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.

PubMed ID: 10399756

DOI: 10.1016/s0960-8966(99)00014-0

PubMed ID: 15689448

Title: Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PubMed ID: 15689448

DOI: 10.1136/jmg.2004.023754

PubMed ID: 17886299

Title: Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

PubMed ID: 17886299

DOI: 10.1002/ana.21213

Sequence Information:

  • Length: 3177
  • Mass: 343669
  • Checksum: 56D54CAC4FBB30AF
  • Sequence:
    • MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI GEEHFQLVRE 
FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ EVLSHISNMS YIGGTNQTGK 
GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT DGHSKDGLAL PSAELKSADV NVFAIGVEDA 
DEGALKEIAS EPLNMHMFNL ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITAQDS 
ADIIFLIDGS NNTGSVNFAV ILDFLVNLLE KLPIGTQQIR VGVVQFSDEP RTMFSLDTYS 
TKAQVLGAVK ALGFAGGELA NIGLALDFVV ENHFTRAGGS RVEEGVPQVL VLISAGPSSD 
EIRYGVVALK QASVFSFGLG AQAASRAELQ HIATDDNLVF TVPEFRSFGD LQEKLLPYIV 
GVAQRHIVLK PPTIVTQVIE VNKRDIVFLV DGSSALGLAN FNAIRDFIAK VIQRLEIGQD 
LIQVAVAQYA DTVRPEFYFN THPTKREVIT AVRKMKPLDG SALYTGSALD FVRNNLFTSS 
AGYRAAEGIP KLLVLITGGK SLDEISQPAQ ELKRSSIMAF AIGNKGADQA ELEEIAFDSS 
LVFIPAEFRA APLQGMLPGL LAPLRTLSGT PEVHSNKRDI IFLLDGSANV GKTNFPYVRD 
FVMNLVNSLD IGNDNIRVGL VQFSDTPVTE FSLNTYQTKS DILGHLRQLQ LQGGSGLNTG 
SALSYVYANH FTEAGGSRIR EHVPQLLLLL TAGQSEDSYL QAANALTRAG ILTFCVGASQ 
ANKAELEQIA FNPSLVYLMD DFSSLPALPQ QLIQPLTTYV SGGVEEVPLA QPESKRDILF 
LFDGSANLVG QFPVVRDFLY KIIDELNVKP EGTRIAVAQY SDDVKVESRF DEHQSKPEIL 
NLVKRMKIKT GKALNLGYAL DYAQRYIFVK SAGSRIEDGV LQFLVLLVAG RSSDRVDGPA 
SNLKQSGVVP FIFQAKNADP AELEQIVLSP AFILAAESLP KIGDLHPQIV NLLKSVHNGA 
PAPVSGEKDV VFLLDGSEGV RSGFPLLKEF VQRVVESLDV GQDRVRVAVV QYSDRTRPEF 
YLNSYMNKQD VVNAVRQLTL LGGPTPNTGA ALEFVLRNIL VSSAGSRITE GVPQLLIVLT 
ADRSGDDVRN PSVVVKRGGA VPIGIGIGNA DITEMQTISF IPDFAVAIPT FRQLGTVQQV 
ISERVTQLTR EELSRLQPVL QPLPSPGVGG KRDVVFLIDG SQSAGPEFQY VRTLIERLVD 
YLDVGFDTTR VAVIQFSDDP KVEFLLNAHS SKDEVQNAVQ RLRPKGGRQI NVGNALEYVS 
RNIFKRPLGS RIEEGVPQFL VLISSGKSDD EVDDPAVELK QFGVAPFTIA RNADQEELVK 
ISLSPEYVFS VSTFRELPSL EQKLLTPITT LTSEQIQKLL ASTRYPPPAV ESDAADIVFL 
IDSSEGVRPD GFAHIRDFVS RIVRRLNIGP SKVRVGVVQF SNDVFPEFYL KTYRSQAPVL 
DAIRRLRLRG GSPLNTGKAL EFVARNLFVK SAGSRIEDGV PQHLVLVLGG KSQDDVSRFA 
QVIRSSGIVS LGVGDRNIDR TELQTITNDP RLVFTVREFR ELPNIEERIM NSFGPSAATP 
APPGVDTPPP SRPEKKKADI VFLLDGSINF RRDSFQEVLR FVSEIVDTVY EDGDSIQVGL 
VQYNSDPTDE FFLKDFSTKR QIIDAINKVV YKGGRHANTK VGLEHLRVNH FVPEAGSRLD 
QRVPQIAFVI TGGKSVEDAQ DVSLALTQRG VKVFAVGVRN IDSEEVGKIA SNSATAFRVG 
NVQELSELSE QVLETLHDAM HETLCPGVTD AAKACNLDVI LGFDGSRDQN VFVAQKGFES 
KVDAILNRIS QMHRVSCSGG RSPTVRVSVV ANTPSGPVEA FDFDEYQPEM LEKFRNMRSQ 
HPYVLTEDTL KVYLNKFRQS SPDSVKVVIH FTDGADGDLA DLHRASENLR QEGVRALILV 
GLERVVNLER LMHLEFGRGF MYDRPLRLNL LDLDYELAEQ LDNIAEKACC GVPCKCSGQR 
GDRGPIGSIG PKGIPGEDGY RGYPGDEGGP GERGPPGVNG TQGFQGCPGQ RGVKGSRGFP 
GEKGEVGEIG LDGLDGEDGD KGLPGSSGEK GNPGRRGDKG PRGEKGERGD VGIRGDPGNP 
GQDSQERGPK GETGDLGPMG VPGRDGVPGG PGETGKNGGF GRRGPPGAKG NKGGPGQPGF 
EGEQGTRGAQ GPAGPAGPPG LIGEQGISGP RGSGGAAGAP GERGRTGPLG RKGEPGEPGP 
KGGIGNRGPR GETGDDGRDG VGSEGRRGKK GERGFPGYPG PKGNPGEPGL NGTTGPKGIR 
GRRGNSGPPG IVGQKGDPGY PGPAGPKGNR GDSIDQCALI QSIKDKCPCC YGPLECPVFP 
TELAFALDTS EGVNQDTFGR MRDVVLSIVN DLTIAESNCP RGARVAVVTY NNEVTTEIRF 
ADSKRKSVLL DKIKNLQVAL TSKQQSLETA MSFVARNTFK RVRNGFLMRK VAVFFSNTPT 
RASPQLREAV LKLSDAGITP LFLTRQEDRQ LINALQINNT AVGHALVLPA GRDLTDFLEN 
VLTCHVCLDI CNIDPSCGFG SWRPSFRDRR AAGSDVDIDM AFILDSAETT TLFQFNEMKK 
YIAYLVRQLD MSPDPKASQH FARVAVVQHA PSESVDNASM PPVKVEFSLT DYGSKEKLVD 
FLSRGMTQLQ GTRALGSAIE YTIENVFESA PNPRDLKIVV LMLTGEVPEQ QLEEAQRVIL 
QAKCKGYFFV VLGIGRKVNI KEVYTFASEP NDVFFKLVDK STELNEEPLM RFGRLLPSFV 
SSENAFYLSP DIRKQCDWFQ GDQPTKNLVK FGHKQVNVPN NVTSSPTSNP VTTTKPVTTT 
KPVTTTTKPV TTTTKPVTII NQPSVKPAAA KPAPAKPVAA KPVATKMATV RPPVAVKPAT 
AAKPVAAKPA AVRPPAAAAA KPVATKPEVP RPQAAKPAAT KPATTKPMVK MSREVQVFEI 
TENSAKLHWE RAEPPGPYFY DLTVTSAHDQ SLVLKQNLTV TDRVIGGLLA GQTYHVAVVC 
YLRSQVRATY HGSFSTKKSQ PPPPQPARSA SSSTINLMVS TEPLALTETD ICKLPKDEGT 
CRDFILKWYY DPNTKSCARF WYGGCGGNEN KFGSQKECEK VCAPVLAKPG VISVMGT

Genular Protein ID: 2579076774

Symbol: Q8N4Z1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8N4Z1

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 3 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 3 InterPro 10 KEGG 1 MEROPS 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 7 PeptideAtlas 1 Pfam 3 PharmGKB 1 RefSeq 2 SAM 1 SMART 2 SUPFAM 3

Sequence Information:

  • Length: 979
  • Mass: 104829
  • Checksum: C2835DFCC7432B67
  • Sequence:
    • GFGRRGPPGA KGNKGGPGQP GFEGEQGTRG AQGPAGPAGP PGLIGEQGIS GPRGSGGAAG 
APGERGRTGP LGRKGEPGEP GPKGGIGNRG PRGETGDDGR DGVGSEGRRG KKGERGFPGY 
PGPKGNPGEP GLNGTTGPKG IRGRRGNSGP PGIVGQKGDP GYPGPAGPKG NRGDSIDQCA 
LIQSIKDKCP CCYGPLECPV FPTELAFALD TSEGVNQDTF GRMRDVVLSI VNDLTIAESN 
CPRGARVAVV TYNNEVTTEI RFADSKRKSV LLDKIKNLQV ALTSKQQSLE TAMSFVARNT 
FKRVRNGFLM RKVAVFFSNT PTRASPQLRE AVLKLSDAGI TPLFLTRQED RQLINALQIN 
NTAVGHALVL PAGRDLTDFL ENVLTCHVCL DICNIDPSCG FGSWRPSFRD RRAAGSDVDI 
DMAFILDSAE TTTLFQFNEM KKYIAYLVRQ LDMSPDPKAS QHFARVAVVQ HAPSESVDNA 
SMPPVKVEFS LTDYGSKEKL VDFLSRGMTQ LQGTRALGSA IEYTIENVFE SAPNPRDLKI 
VVLMLTGEVP EQQLEEAQRV ILQAKCKGYF FVVLGIGRKV NIKEVYTFAS EPNDVFFKLV 
DKSTELNEEP LMRFGRLLPS FVSSENAFYL SPDIRKQCDW FQGDQPTKNL VKFGHKQVNV 
PNNVTSSPTS NPVTTTKPVT TTKPVTTTTK PVTTTTKPVT IINQPSVKPA AAKPAPAKPV 
AAKPVATKMA TVRPPVAVKP ATAAKPVAAK PAAVRPPAAA AAKPVATKPE VPRPQAAKPA 
ATKPATTKPM VKMSREVQVF EITENSAKLH WERAEPPGPY FYDLTVTSAH DQSLVLKQNL 
TVTDRVIGGL LAGQTYHVAV VCYLRSQVRA TYHGSFSTKK SQPPPPQPAR SASSSTINLM 
VSTEPLALTE TDICKLPKDE GTCRDFILKW YYDPNTKSCA RFWYGGCGGN ENKFGSQKEC 
EKVCAPVLAK PGVISVMGT

Genular Protein ID: 2717536249

Symbol: Q63HQ4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q63HQ4

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 1 Gene3D 1 InterPro 4 KEGG 1 MEROPS 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 4 SAM 1 SMART 1 SUPFAM 1

Sequence Information:

  • Length: 1222
  • Mass: 133182
  • Checksum: 6306C93214E68616
  • Sequence:
    • MRKHRHLPLV AVFCLFLSGL PTTHAQQQQA AQDSADIIFL IDGSNNTGSV NFAVILDFLV 
NLLEKLPIGT QQIRVGVVQF SDEPRTMFSL DTYSTKAQVL GAVKALGFAG GELANIGLAL 
DFVVENHFTR AGGSRVEEGV PQVLVLISAG PSSDEIRYGV VALKQASVFS FGLGAQAASR 
AELQHIATDD NLVFTVPEFR SFGDLQEKLL PYIVGVAQRH IVLKPPTIVT QVIEVNKRDI 
VFLVDGSSAL GLANFNAIRD FIAKVIQRLE IGQDLIQVAV AQYADTVRPE FYFNTHPTKR 
EVITAVRKMK PLDGSALYTG SALDFVRNNL FTSSAGYRAA EGIPKLLVLI TGGKSLDEIS 
QPAQELKRSS IMAFAIGNKG ADQAELEEIA FDSSLVFIPA EFRAAPLQGM LPGLLAPLRT 
LSGTPEVHSN KRDIIFLLDG SANVGKTNFP YVRDFVMNLV NSLDIGNDNI RVGLVQFSDT 
PVTEFSLNTY QTKSDILGHL RQLQLQGGSG LNTGSALSYV YANHFTEAGG SRIREHVPQL 
LLLLTAGQSE DSYLQAANAL TRAGILTFCV GASQANKAEL EQIAFNPSLV YLMDDFSSLP 
ALPQQLIQPL TTYVSGGVEE VPLAQPESKR DILFLFDGSA NLVGQFPVVR DFLYKIIDEL 
NVKPEGTQIA VAQYSDDVKV ESRFDEHQSK PEILNLVKRM KIKTGKALNL GYALDYAQRY 
IFVKSAGSRI EDGVLQFLVL LVAGRSSDRV DGPASNLKQS GVVPFIFQAK NADPAELEQI 
VLSPAFILAA ESLPKIGDLH PQIVNLLKSV HNGAPAPVSG EKDVVFLLDG SEGVRSGFPL 
LKEFVQRVVE SLDVGQDRVR VAVVQYSDRT RPEFYLNSYM NKQDVVNAVR QLTLLGGPTP 
NTGAALEFVL RNILVSSAGS RITEGVPQLL IVLTADRSGD DVRNPSVVVK RGGAVPIGIG 
IGNADITEMQ TISFIPDFAV AIPTFRQLGT VQQVISERVT QLTREELSRL QPVLQPLPSP 
GVGGKRDVVF LIDGSQSAGP EFQYVRTLIE RLVDYLDVGF DTTRVAVIQF SDDPKVEFLL 
NAHSSKDEVQ NAVQRLRPKG GRQINVGNAL EYVSRNIFKR PLGSRIEEGV PQFLVLISSG 
KSDDEVDDPA VELKQFGVAP FTIARNADQE ELVKISLSPE YVFSVSTFRE LPSLEQKLLT 
PITTLTSEQI QKLLASTRYP PP

Genular Protein ID: 1265651524

Symbol: B7ZW00_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZW00

Database IDs:

ARBA 5 BioGRID-ORCS 1 CDD 4 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 3 InterPro 11 MEROPS 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 7 PeptideAtlas 1 Pfam 3 PharmGKB 1 RefSeq 1 SAM 2 SMART 2 SUPFAM 3

Citations:

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

Sequence Information:

  • Length: 2570
  • Mass: 278211
  • Checksum: 252780DE21898428
  • Sequence:
    • MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA VIEVNKRDIV FLVDGSSALG LANFNAIRDF 
IAKVIQRLEI GQDLIQVAVA QYADTVRPEF YFNTHPTKRE VITAVRKMKP LDGSALYTGS 
ALDFVRNNLF TSSAGYRAAE GIPKLLVLIT GGKSLDEISQ PAQELKRSSI MAFAIGNKGA 
DQAELEEIAF DSSLVFIPAE FRAAPLQGML PGLLAPLRTL SGTPEESKRD ILFLFDGSAN 
LVGQFPVVRD FLYKIIDELN VKPEGTRIAV AQYSDDVKVE SRFDEHQSKP EILNLVKRMK 
IKTGKALNLG YALDYAQRYI FVKSAGSRIE DGVLQFLVLL VAGRSSDRVD GPASNLKQSG 
VVPFIFQAKN ADPAELEQIV LSPAFILAAE SLPKIGDLHP QIVNLLKSVH NGAPAPVSGE 
KDVVFLLDGS EGVRSGFPLL KEFVQRVVES LDVGQDRVRV AVVQYSDRTR PEFYLNSYMN 
KQDVVNAVRQ LTLLGGPTPN TGAALEFVLR NILVSSAGSR ITEGVPQLLI VLTADRSGDD 
VRNPSVVVKR GGAVPIGIGI GNADITEMQT ISFIPDFAVA IPTFRQLGTV QQVISERVTQ 
LTREELSRLQ PVLQPLPSPG VGGKRDVVFL IDGSQSAGPE FQYVRTLIER LVDYLDVGFD 
TTRVAVIQFS DDPKVEFLLN AHSSKDEVQN AVQRLRPKGG RQINVGNALE YVSRNIFKRP 
LGSRIEEGVP QFLVLISSGK SDDEVDDPAV ELKQFGVAPF TIARNADQEE LVKISLSPEY 
VFSVSTFREL PSLEQKLLTP ITTLTSEQIQ KLLASTRYPP PAVESDAADI VFLIDSSEGV 
RPDGFAHIRD FVSRIVRRLN IGPSKVRVGV VQFSNDVFPE FYLKTYRSQA PVLDAIRRLR 
LRGGSPLNTG KALEFVARNL FVKSAGSRIE DGVPQHLVLV LGGKSQDDVS RFAQVIRSSG 
IVSLGVGDRN IDRTELQTIT NDPRLVFTVR EFRELPNIEE RIMNSFGPSA ATPAPPGVDT 
PPPSRPEKKK ADIVFLLDGS INFRRDSFQE VLRFVSEIVD TVYEDGDSIQ VGLVQYNSDP 
TDEFFLKDFS TKRQIIDAIN KVVYKGGRHA NTKVGLEHLR VNHFVPEAGS RLDQRVPQIA 
FVITGGKSVE DAQDVSLALT QRGVKVFAVG VRNIDSEEVG KIASNSATAF RVGNVQELSE 
LSEQVLETLH DAMHETLCPG VTDAAKACNL DVILGFDGSR DQNVFVAQKG FESKVDAILN 
RISQMHRVSC SGGRSPTVRV SVVANTPSGP VEAFDFDEYQ PEMLEKFRNM RSQHPYVLTE 
DTLKVYLNKF RQSSPDSVKV VIHFTDGADG DLADLHRASE NLRQEGVRAL ILVGLERVVN 
LERLMHLEFG RGFMYDRPLR LNLLDLDYEL AEQLDNIAEK ACCGVPCKCS GQRGDRGPIG 
SIGPKGIPGE DGYRGYPGDE GGPGERGPPG VNGTQGFQGC PGQRGVKGSR GFPGEKGEVG 
EIGLDGLDGE DGDKGLPGSS GEKGNPGRRG DKGPRGEKGE RGDVGIRGDP GNPGQDSQER 
GPKGETGDLG PMGVPGRDGV PGGPGETGKN GGFGRRGPPG AKGNKGGPGQ PGFEGEQGTR 
GAQGPAGPAG PPGLIGEQGI SGPRGSGGAA GAPGERGRTG PLGRKGEPGE PGPKGGIGNR 
GPRGETGDDG RDGVGSEGRR GKKGERGFPG YPGPKGNPGE PGLNGTTGPK GIRGRRGNSG 
PPGIVGQKGD PGYPGPAGPK GNRGDSIDQC ALIQSIKDKC PCCYGPLECP VFPTELAFAL 
DTSEGVNQDT FGRMRDVVLS IVNDLTIAES NCPRGARVAV VTYNNEVTTE IRFADSKRKS 
VLLDKIKNLQ VALTSKQQSL ETAMSFVARN TFKRVRNGFL MRKVAVFFSN TPTRASPQLR 
EAVLKLSDAG ITPLFLTRQE DRQLINALQI NNTAVGHALV LPAGRDLTDF LENVLTCHVC 
LDICNIDPSC GFGSWRPSFR DRRAAGSDVD IDMAFILDSA ETTTLFQFNE MKKYIAYLVR 
QLDMSPDPKA SQHFARVAVV QHAPSESVDN ASMPPVKVEF SLTDYGSKEK LVDFLSRGMT 
QLQGTRALGS AIEYTIENVF ESAPNPRDLK IVVLMLTGEV PEQQLEEAQR VILQAKCKGY 
FFVVLGIGRK VNIKEVYTFA SEPNDVFFKL VDKSTELNEE PLMRFGRLLP SFVSSENAFY 
LSPDIRKQCD WFQGDQPTKN LVKFGHKQVN VPNNVTSSPT SNPVTTTKPV TTTKPVTTTT 
KPVTTTTKPV TIINQPSVKP AAAKPAPAKP VAAKPVATKT ATVRPPVAVK PATAAKPVAA 
KPAAVRPPAA AAAKPVATKP EVPRPQAAKP AATKPATTKP MVKMSREVQV FEITENSAKL 
HWERPEPPGP YFYDLTVTSA HDQSLVLKQN LTVTDRVIGG LLAGQTYHVA VVCYLRSQVR 
AIYHGSFSTK KSQPPPPQPA RSASSSTINL MVSTEPLALT ETDICKLPKD EGTCRDFILK 
WYYDPNTKSC ARFWYGGCGG NENKFGSQKE CEKVCAPVLA KPGVISVMGT

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.