MGP Database

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MGP000622

UniProt Annotations

Entry Information
Gene Namecollagen, type IV, alpha 6
Protein EntryCO4A6_HUMAN
UniProt IDQ14031
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q14031-1; Sequence=Displayed; Name=B; IsoId=Q14031-2; Sequence=VSP_001174;
DiseaseDeafness, X-linked, 6 (DFNX6) [MIM:300914]: A non- syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:23714752}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).
DomainAlpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G- X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain.
FunctionType IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
PtmProlines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
PtmThe trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues. {ECO:0000250}.
PtmType IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.
SimilarityBelongs to the type IV collagen family. {ECO:0000255|PROSITE-ProRule:PRU00736}.
SimilarityContains 1 collagen IV NC1 (C-terminal non- collagenous) domain. {ECO:0000255|PROSITE-ProRule:PRU00736}.
Subcellular LocationSecreted, extracellular space, extracellular matrix, basement membrane.
SubunitThere are six type IV collagen isoforms, alpha 1(IV)- alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network.
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