Details for: COL6A3

Gene ID: 1293

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: COL6A3

Ensembl ID: ENSG00000163359

Description: collagen type VI alpha 3 chain

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • bronchus fibroblast of lung CL2000093
    CSI 47.2
    rCSI 38.35%
    PRS 87.2
  • activated CD4-positive, alpha-beta T cell CL0000896
    CSI 16.74
    rCSI 15.48%
    PRS 96.96
  • alveolar type 1 fibroblast cell CL4028004
    CSI 16.47
    rCSI 18.03%
    PRS 89.34
  • keratocyte CL0002363
    CSI 16.42
    rCSI 39.48%
    PRS 89.25
  • skin fibroblast CL0002620
    CSI 16.16
    rCSI 13.93%
    PRS 87.44
  • fibroblast of lung CL0002553
    CSI 13.64
    rCSI 12.69%
    PRS 88.89
  • adventitial cell CL0002503
    CSI 13.32
    rCSI 31.81%
    PRS 90.35
  • fibroblast of breast CL4006000
    CSI 12.84
    rCSI 53.97%
    PRS 90.41
  • perivascular cell CL4033054
    CSI 11.7
    rCSI 15.99%
    PRS 91.14
  • stromal cell of ovary CL0002132
    CSI 11.5
    rCSI 31.6%
    PRS 91.63
  • intestine goblet cell CL0019031
    CSI 11.32
    rCSI 10.05%
    PRS 85.31
  • myofibroblast cell CL0000186
    CSI 10.14
    rCSI 14.05%
    PRS 84.4
  • hepatic stellate cell CL0000632
    CSI 9.56
    rCSI 35.79%
    PRS 82.34
  • stromal cell CL0000499
    CSI 8.92
    rCSI 25.11%
    PRS 83.48
  • colon epithelial cell CL0011108
    CSI 8.53
    rCSI 8.93%
    PRS 85.41
  • interstitial cell of Cajal CL0002088
    CSI 8.49
    rCSI 10.81%
    PRS 91.77
  • fibroblast of cardiac tissue CL0002548
    CSI 7.88
    rCSI 37.74%
    PRS 88.34
  • alveolar adventitial fibroblast CL4028006
    CSI 7.78
    rCSI 12.28%
    PRS 88.73
  • pancreatic stellate cell CL0002410
    CSI 7.66
    rCSI 44.57%
    PRS 89.81
  • enteric smooth muscle cell CL0002504
    CSI 7.23
    rCSI 10.32%
    PRS 88.18
  • mesenchymal stem cell of adipose tissue CL0002570
    CSI 7.1
    rCSI 39.58%
    PRS 89
  • adipocyte CL0000136
    CSI 7.07
    rCSI 9.07%
    PRS 78.92
  • microcirculation associated smooth muscle cell CL0008035
    CSI 6.68
    rCSI 19.34%
    PRS 86.97
  • endocardial cell CL0002350
    CSI 6.38
    rCSI 30.53%
    PRS 83.86
  • myeloid leukocyte CL0000766
    CSI 6.05
    rCSI 5.58%
    PRS 88.94
  • mesodermal cell CL0000222
    CSI 5.21
    rCSI 6.25%
    PRS 86.58
  • alpha-beta T cell CL0000789
    CSI 5.15
    rCSI 6.03%
    PRS 96.17
  • peripheral nervous system neuron CL2000032
    CSI 4.97
    rCSI 6.78%
    PRS 81.14
  • renal interstitial pericyte CL1001318
    CSI 4.97
    rCSI 13.7%
    PRS 84.46
  • fibroblast CL0000057
    CSI 4.92
    rCSI 14.16%
    PRS 79.27
  • mesenchymal cell CL0008019
    CSI 4.69
    rCSI 11.92%
    PRS 82.31
  • vascular leptomeningeal cell CL4023051
    CSI 4.65
    rCSI 8.15%
    PRS 83.58
  • pericyte CL0000669
    CSI 4.38
    rCSI 11.66%
    PRS 64.33
  • mononuclear phagocyte CL0000113
    CSI 4.33
    rCSI 9.53%
    PRS 90.48
  • tracheobronchial smooth muscle cell CL0019019
    CSI 4.26
    rCSI 7.51%
    PRS 90.97
  • lung pericyte CL0009089
    CSI 4.15
    rCSI 10.96%
    PRS 92.25
  • vascular associated smooth muscle cell CL0000359
    CSI 4.15
    rCSI 13.47%
    PRS 85.83
  • secretory cell CL0000151
    CSI 4.1
    rCSI 4.28%
    PRS 86.78
  • erythrocyte CL0000232
    CSI 4.05
    rCSI 9.19%
    PRS 87.07
  • IgA plasma cell CL0000987
    CSI 3.81
    rCSI 3.9%
    PRS 91.1
  • cardiac neuron CL0010022
    CSI 3.55
    rCSI 11.37%
    PRS 85.94
  • tendon cell CL0000388
    CSI 3.17
    rCSI 8.23%
    PRS 91.77
  • mesenchymal stem cell CL0000134
    CSI 3.07
    rCSI 33.63%
    PRS 90.48
  • epicardial adipocyte CL1000309
    CSI 2.85
    rCSI 9.28%
    PRS 85.01
  • chondrocyte CL0000138
    CSI 2.51
    rCSI 4%
    PRS 82.5
  • respiratory suprabasal cell CL4033048
    CSI 2.37
    rCSI 3.04%
    PRS 89.8
  • smooth muscle cell of the pulmonary artery CL0002591
    CSI 1.82
    rCSI 13.98%
    PRS 87.97
  • uterine smooth muscle cell CL0002601
    CSI 1.39
    rCSI 9.15%
    PRS 91.02
  • effector CD4-positive, alpha-beta T cell CL0001044
    CSI 1.33
    rCSI 3.82%
    PRS 97.75
  • ciliated cell CL0000064
    CSI 1.32
    rCSI 2.14%
    PRS 82.33
  • contractile cell CL0000183
    CSI 1.32
    rCSI 3.88%
    PRS 86.84
  • lung macrophage CL1001603
    CSI 1.26
    rCSI 2.82%
    PRS 92.78
  • mesenchymal lymphangioblast CL0005021
    CSI 1.22
    rCSI 31.93%
    PRS 91.77
  • mesangial cell CL0000650
    CSI 1.21
    rCSI 4.92%
    PRS 93.33
  • blood vessel smooth muscle cell CL0019018
    CSI 0.94
    rCSI 7.65%
    PRS 83.89
  • type EC enteroendocrine cell CL0000577
    CSI 0.85
    rCSI 3.02%
    PRS 89.68
  • exhausted T cell CL0011025
    CSI 0.59
    rCSI 10.01%
    PRS 92.28

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.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [COL6A3](/details-gene/1293) encodes the alpha-3 chain of type VI collagen, a crucial microfibrillar component of the extracellular matrix (ECM). This protein is essential for the structural integrity of connective tissues by forming a complex network that anchors basement membranes to the underlying stroma. **Overall**, expression data reveals that [COL6A3](/details-gene/1293) is overwhelmingly significant in various fibroblast and stromal cell populations, with a particularly high cell significance index (CSI) in [bronchus fibroblast of lung](/details-cell/CL2000093), highlighting its role in maintaining tissue architecture, particularly in the lung. Clinically, mutations in [COL6A3](/details-gene/1293) are associated with Bethlem myopathy and Ullrich congenital muscular dystrophy, as well as early-onset isolated dystonia ([120250](https://omim.org/entry/120250)), underscoring its importance in both muscle and neuronal function. ## Cellular Roles and Expression Landscape The expression profile of [COL6A3](/details-gene/1293) firmly establishes it as a key gene in mesenchymal and stromal cell lineages responsible for producing and organizing the ECM. The gene's significance is exceptionally high in [bronchus fibroblast of lung](/details-cell/CL2000093) (CSI: 47.20), suggesting it is a defining marker and a major functional contributor in this cell type. This pattern of high significance is recapitulated across a spectrum of related cells, including [alveolar type 1 fibroblast cell](/details-cell/CL4028004), [skin fibroblast](/details-cell/CL0002620), [myofibroblast cell](/details-cell/CL0000186), and [hepatic stellate cell](/details-cell/CL0000632). This broad expression in fibroblasts from diverse anatomical locations indicates a conserved and fundamental role in tissue scaffolding throughout the body. Interestingly, [COL6A3](/details-gene/1293) also shows notable significance in cell types not traditionally viewed as primary ECM producers, such as [activated CD4-positive, alpha-beta T cell](/details-cell/CL0000896) and [intestine goblet cell](/details-cell/CL0019031). This suggests that beyond its structural role, [COL6A3](/details-gene/1293) may be involved in specialized functions such as immune cell trafficking or mucosal barrier maintenance. The presence in activated T cells, for instance, may indicate a role in remodeling the ECM during inflammatory responses to facilitate cell migration and effector function. ## Pathways and Molecular Function The functions of [COL6A3](/details-gene/1293) are intrinsically linked to the biology of the extracellular matrix. Its primary molecular function is as an [extracellular matrix structural constituent conferring tensile strength](/details-pathway/GO:0030020), which is consistent with its high expression in fibroblasts. Reactome pathway analysis confirms its central role in processes such as [Collagen formation](/details-pathway/R-HSA-1474290), [Extracellular matrix organization](/details-pathway/R-HSA-1474244), and [Assembly of collagen fibrils and other multimeric structures](/details-pathway/R-HSA-2022090). These pathways collectively describe the synthesis, processing, and assembly of collagen molecules into the supramolecular structures that form the connective tissue framework. Beyond this structural role, [COL6A3](/details-gene/1293) is implicated in cell signaling and development. Its involvement in [Integrin cell surface interactions](/details-pathway/R-HSA-216083) and [Axon guidance](/details-pathway/R-HSA-422475) suggests it acts as a ligand that provides environmental cues to cells, influencing adhesion, migration, and differentiation. This function is particularly relevant to its established link with neuromuscular disorders [[Link](https://doi.org/10.1016/j.ajhg.2015.04.010)]. Furthermore, the protein contains domains with [serine-type endopeptidase inhibitor activity](/details-pathway/GO:0004867), indicating it may also regulate local proteolytic activity to maintain tissue homeostasis and prevent excessive ECM degradation [[Link](https://doi.org/10.1002/j.1460-2075.1990.tb08122.x)]. ## Research Directions The functional profile and expression landscape of [COL6A3](/details-gene/1293) suggest several avenues for future research, particularly concerning its roles in fibrosis and neurological disease. **Proposed Testable Hypotheses:** 1. **Role in Pulmonary Fibrosis:** Given its exceptionally high CSI in [bronchus fibroblast of lung](/details-cell/CL2000093) and [alveolar type 1 fibroblast cell](/details-cell/CL4028004), dysregulated overexpression of [COL6A3](/details-gene/1293) is a key pathogenic driver of lung fibrosis by promoting excessive collagen deposition and tissue stiffening. 2. **Mechanism in Dystonia:** Based on its connection to isolated dystonia [[Link](https://doi.org/10.1016/j.ajhg.2015.04.010)] and its role in [Axon guidance](/details-pathway/R-HSA-422475), we hypothesize that disease-causing mutations in [COL6A3](/details-gene/1293) impair the structural integrity of the perineuronal ECM in the basal ganglia, leading to aberrant synaptic function and the development of involuntary muscle contractions. 3. **Function in T Cell Biology:** The significant expression in [activated CD4-positive, alpha-beta T cell](/details-cell/CL0000896) suggests that T cells secrete COL6A3 during an immune response to locally remodel the ECM, thereby creating pathways for migration through dense tissue to reach sites of inflammation or infection. **Suggested Experimental Approach:** To test the hypothesis regarding the role of [COL6A3](/details-gene/1293) in pulmonary fibrosis (Hypothesis 1), a robust experimental plan would involve using a mouse model of bleomycin-induced lung fibrosis. This would compare wild-type mice to mice with a fibroblast-specific conditional knockout of `Col6a3` (e.g., using a Col1a1-Cre driver). The extent of fibrosis could be quantified via histological analysis (Masson's trichrome staining), hydroxyproline assays for total collagen content, and functional assessment of lung mechanics. Furthermore, single-cell RNA sequencing of lung tissue from both genotypes at different time points post-bleomycin treatment would reveal the specific downstream effects of [COL6A3](/details-gene/1293) ablation on fibroblast activation states and their communication with other cell types. **Therapeutic Potential:** As an extracellular protein, [COL6A3](/details-gene/1293) is an accessible drug target. In the context of fibrotic diseases where its expression is often pathologically elevated, **inhibition** would be the desired therapeutic strategy. This could be achieved using neutralizing monoclonal antibodies that block its interaction with cell surface receptors or prevent its incorporation into the ECM. Such an approach could potentially halt or reverse the progression of fibrosis in organs like the lung, liver, or kidney. However, its widespread importance in maintaining normal connective tissue integrity means that systemic inhibition would carry a significant risk of on-target toxicities, suggesting that targeted delivery or localized administration might be necessary for a favorable therapeutic window.

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