Collagen, type IV, alpha 1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Collagen, type IV, alpha 1
Protein COL4A1 PDB 1li1.png
PDB rendering based on 1li1.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols COL4A1 ; HANAC; ICH; POREN1; arresten
External IDs OMIM120130 MGI88454 HomoloGene20437 GeneCards: COL4A1 Gene
RNA expression pattern
PBB GE COL4A1 211980 at tn.png
PBB GE COL4A1 211981 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1282 12826
Ensembl ENSG00000187498 ENSMUSG00000031502
UniProt P02462 P02463
RefSeq (mRNA) NM_001845 NM_009931
RefSeq (protein) NP_001836 NP_034061
Location (UCSC) Chr 13:
110.8 – 110.96 Mb
Chr 8:
11.2 – 11.31 Mb
PubMed search [1] [2]

Collagen alpha-1(IV) chain is a protein that in humans is encoded by the COL4A1 gene.[1][2]

This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter.[2]

Mutations in COL4A1 exons 24 and 25 are associated with HANAC (autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps).[3]

References[edit]

  1. ^ Soininen R, Haka-Risku T, Prockop DJ, Tryggvason K (Jan 1988). "Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen". FEBS Lett 225 (1-2): 188–94. doi:10.1016/0014-5793(87)81155-9. PMID 3691802. 
  2. ^ a b "Entrez Gene: COL4A1 collagen, type IV, alpha 1". 
  3. ^ Plaisier E, Gribouval O, Alamowitch S et al. (2007). "COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps". N. Engl. J. Med. 357 (26): 2687–2695. doi:10.1056/NEJMoa071906. PMID 18160688. 

Further reading[edit]

External links[edit]