COL4A4

from Wikipedia, the free encyclopedia
Type IV collagen, alpha 4
other names
  • Alpha-4 Type IV Collagen
  • Collagen alpha-3 (IV) chain
  • Type IV collagen alpha-3 chain
Properties of human protein
Mass / length primary structure 164,038 daltons / 1,690 amino acids
Identifier
Gene names COL4A4; CA44
External IDs
Occurrence
Parent taxon Sarcopterygii , Clupeocephala
Orthologue
human House mouse
Entrez 1286 12829
Ensemble ENSG00000081052 ENSMUSG00000067158
UniProt P53420 Q9QZR9
Refseq (mRNA) NM_000092 NM_007735
Refseq (protein) NP_000083.3 NP_031761.1
Gene locus Chr 2: 227-227.16 Mb Chr 1: 82.45 - 82.59 Mb
PubMed search 1286 12829

Type IV collagen, alpha 4 , also known as alpha-4 type IV collagen , is a network-forming collagen that is encoded by the COL4A4 gene in the human organism . Type IV collagen proteins are integral parts of the basement membrane , more precisely the lamina densa .

history

Mariyama et al . found in 1992 through analyzes of somatic cell hybrids and in situ hybridization that COL4A3 and COL4A4 have the same gene locus (2q35-q37). In the same year a more precise localization of the gene came from Kamagata et al . when using a human genomic DNA fragment for in situ hybridization, which determined a gene locus of 2q35 – q37.1.

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 genes of COL4A3 and COL4A4 are located on codogenic strands of chromosome 2 and are transcribed in opposite directions. The first exon of the COL4A3 gene , which contains the translation start point, is separated by 372 and 5 kb by the first two exons of the COL4A4 gene . The promoter region which is used by both genes is composed of dense CpG dinucleotides , GC boxes , CTC boxes and a CCAAT box , but does not contain a TATA box .

Diseases

Mutations in this gene have been linked to autosomal recessive Alport syndrome (hereditary glomerulonephritis) and familial harmless hematuria ( thin basement membrane type nephropathy ).

Individual evidence

  1. ↑ M. Mariyama, K. Zheng, TL Yang-Feng, ST Reeders: Colocalization of the genes for the alpha 3 (IV) and alpha 4 (IV) chains of type IV collagen to chromosome 2 bands q35-q37 . In: Genomics . 13, No. 3, July 1992, pp. 809-813. PMID 1639407 .
  2. ↑ Y. Kamagata, M.-G. Mattei, Y. Ninomiya: Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2 . (PDF) In: J Biol Chem . 267, No. 33, November 5, 1992, pp. 23753-23758. PMID 1429714 .
  3. ↑ UniProt P53420
  4. ↑ R. Momota, M. Sugimoto, T. Oohashi, K. Kigasawa, H. Yoshioka, Y. Ninomiya: Two genes, COL4A3 and COL4A4 coding for the human alpha3 (IV) and alpha4 (IV) collagen chains are arranged head- to-head on chromosome 2q36 Archived from the original on July 23, 2016. Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. In: FEBS Lett . 424, No. 1-2, March 6, 1998, pp. 11-16. PMID 9537506 . @1@ 2Template: Webachiv / IABot / febs.onlinelibrary.wiley.com
  5. ↑ COL4A4. In: GeneCards (English).
  6. ^ GeneID 1286