COL4A5

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Type IV collagen, alpha 5
other names
  • Alpha 5 Type IV Collagen
  • Collagen Alpha-4 (IV) chain
  • Type IV collagen alpha-4 chain
Properties of human protein
Mass / length primary structure 161,044 daltons / 1,685 amino acids
Isoforms 2
Identifier
Gene names COL4A5; DA149D17.3
External IDs
Occurrence
Parent taxon Bilateria
Orthologue
human House mouse
Entrez 1287 12830
Ensemble ENSG00000188153 ENSMUSG00000031274
UniProt P29400
Refseq (mRNA) NM_000495 NM_001163155
Refseq (protein) NP_000486.1
Gene locus Chr X: 108.44 - 108.7 Mb Chr X: 141.48 - 141.69 Mb
PubMed search 1287 12830

Type IV collagen, alpha 5 , also known as alpha-5 type IV collagen , is a network-forming collagen that is encoded by the COL4A5 gene in the human organism . Type IV collagen proteins are integral parts of the basement membrane , more precisely the lamina densa .

history

By Southern blot and in situ hybridization , Hostikka et al . in 1990 assigned the gene COL4A5 to the gene locus Xq22.

function

When using a zebrafish as animal model has been shown that the COL4A5 gene on the surface of the midbrain roof ( tectum or lamina tecti ) the glycoprotein Slit1 binds and the gene ROBO1 in the axons of the retinal ganglion cells (RGC) expressed is.

Gene structure

The COL4A5 gene is 110 kb long and contains 51 exons .

Diseases

Mutations in this gene are linked to X-linked Alport syndrome , also known as hereditary nephritis .

Individual evidence

  1. ↑ SL Hostikka, RL Eddy, MG Byers, M. Hoyhtya, TB Shows, K. Tryggvason: Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome . (PDF) In: Proc Natl Acad Sci USA . 87, No. 4, February 1990, pp. 1606-1610. PMID 1689491 .
  2. ↑ T. Xiao, W. Staub, E. Robles, NJ Gosse, GJ Cole, H. Baier: Assembly of lamina-specific neuronal connections by slit bound to type IV collagen . In: Cell . 146, No. 1, July 8, 2011, pp. 164-176. doi : 10.1016 / j.cell.2011.06.016 . PMID 21729787 .
  3. ↑ D. Vetrie, F. Flinter, M. Bobrow, A. Harris: Long-range mapping of the gene for the human alpha 5 (IV) collagen chain at Xq22-q23 . In: Genomics . 12, No. 1, January 1992, pp. 130-138. PMID 1733850 .
  4. ↑ J. Zhou, JM Hertz, A. Leinonen, K. Tryggvason: Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient . (PDF) In: J Biol Chem . 267, No. 18, January 25, 1992, pp. 12475-12481. PMID 1352287 .
  5. ↑ COL4A5. In: GeneCards (English).
  6. ^ GeneID 1287