COL4A6

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Type IV collagen, alpha 6
other names
  • Alpha-6 Type IV Collagen
  • Collagen alpha-6 (IV) chain
  • Type IV collagen alpha-6 chain
Properties of human protein
Mass / length primary structure 163,807 daltons / 1,691 amino acids
Isoforms 2
Identifier
Gene names COL4A6; CXDELq22.3; DELXq22.3; DFNX6
External IDs
Occurrence
Parent taxon Euteleostomi
Orthologue
human House mouse
Entrez 1288 94216
Ensemble ENSG00000197565 ENSMUSG00000031273
UniProt Q14031
Refseq (mRNA) NM_001287758 NM_053185
Refseq (protein) NP_001274689.1
Gene locus Chr X: 108.16 - 108.44 Mb Chr X: 141.17 - 141.47 Mb
PubMed search 1288 94216

Type IV collagen, alpha 6 , also known as alpha-6 type IV collagen , is a network-forming collagen that is encoded by the COL4A6 gene in the human organism . Type IV collagen proteins are integral parts of the basement membrane , more precisely the lamina densa .

history

In 1994, Oohashi et al . assign the COL4A6 gene to the gene locus Xq22 by in situ hybridization .

function

Type IV collagens are major components of the glomerular basement membrane (GBM). They form chicken-wire meshworks together with laminins, proteoglycans and entactin / nidogen.

Gene structure

The C OL4A6 gene is 425 kb and contains 46 exons . COL4A6 is located on the long chromosome (q arm) on the chromosome band Xq22.3 of the X chromosome .

Protein structure

Type IV collagen alpha chains have a non-collagenous domain (NC1) at the C terminus . Frequent interruptions due to the repetition of the sequence GXY in the central triple helical region is caused by the flexibility in the triple helix. It also has an N -terminal 7S triple helical domain.

Diseases

Deletions in the alpha-6 type IV gene lead to a diffuse leiomyoma , accompanied by an X-linked Alport syndrome .

Individual evidence

  1. ↑ T. Oohashi, M. Sugimoto, M.-G. Mattei, Y. Ninomiya: Identification of a new collagen IV chain, alpha 6 (IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5 . (PDF) In: J Biol Chem . 269, No. 10, March 11, 1994, pp. 7520-7526. PMID 8125972 .
  2. ↑ a b UniProt Q14031
  3. ↑ X. Zhang, J. Zhou, ST Reeders, K. Tryggvason: Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis . In: Genomics . 33, No. 3, May 1, 1996, pp. 473-479. doi : 10.1006 / geno.1996.0222 . PMID 8661006 .
  4. ↑ COL4A6. In: GeneCards (English).
  5. ^ GeneID 1284