MGP Database

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MGP000621

UniProt Annotations

Entry Information
Gene Namecollagen, type IV, alpha 5
Protein EntryCO4A5_HUMAN
UniProt IDP29400
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P29400-1; Sequence=Displayed; Name=2; IsoId=P29400-2; Sequence=VSP_001173; Note=Contains 2 extra G-X-X repeats into the triple-helix domain.;
DiseaseAlport syndrome, X-linked (APSX) [MIM:301050]: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. {ECO:0000269|PubMed:10094548, ECO:0000269|PubMed:10561141, ECO:0000269|PubMed:10563487, ECO:0000269|PubMed:10684360, ECO:0000269|PubMed:10862091, ECO:0000269|PubMed:11004279, ECO:0000269|PubMed:11223851, ECO:0000269|PubMed:1352287, ECO:0000269|PubMed:1363780, ECO:0000269|PubMed:1376965, ECO:0000269|PubMed:1672282, ECO:0000269|PubMed:7599631, ECO:0000269|PubMed:7853788, ECO:0000269|PubMed:8406498, ECO:0000269|PubMed:8651292, ECO:0000269|PubMed:8651296, ECO:0000269|PubMed:8829632, ECO:0000269|PubMed:8940267, ECO:0000269|PubMed:9150741, ECO:0000269|PubMed:9452056, ECO:0000269|PubMed:9848783}. 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.
Tissue SpecificityIsoform 2 is found in kidney.
Web ResourceName= Alport syndrome and COL4A5; URL="http://www.arup.utah.edu/database/ALPORT/ALPORT_welcome.php";
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