COL4A5
COL4A5 (Collagen Type IV Alpha 5 Chain) is a Protein Coding gene. Diseases associated with COL4A5 include Alport Syndrome, X-Linked and Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL4A1.
Full Name
Collagen Type IV Alpha 5 Chain
Function
Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
Biological Process
Collagen-activated tyrosine kinase receptor signaling pathway Source: Ensembl
Collagen fibril organization Source: Reactome
Extracellular matrix organization Source: GO_Central
Neuromuscular junction development Source: Ensembl
Cellular Location
Basement membrane
Involvement in disease
Alport syndrome 1, X-linked (ATS1):
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.
PTM
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Type 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.
The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.
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Datasheet