COL4A3
| Type IV collagen, alpha 3 | ||
|---|---|---|
| other names |
|
|
| Properties of human protein | ||
| Mass / length primary structure | 161,813 daltons / 1,670 amino acids | |
| Isoforms | 5 | |
| Identifier | ||
| Gene name | COL4A3 | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Amniota , Clupeocephala | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 1285 | 12828 |
| Ensemble | ENSG00000169031 | ENSMUSG00000079465 |
| UniProt | Q01955 | Q9QZS0 |
| Refseq (mRNA) | NM_000091 | NM_007734 |
| Refseq (protein) | NP_000082.2 | NP_031760.2 |
| Gene locus | Chr 2: 227.16 - 227.31 Mb | Chr 1: 82.59 - 82.72 Mb |
| PubMed search | 1285 |
12828
|
Type IV collagen, alpha 3 , also known as alpha-3 type IV collagen , is a network-forming collagen that is encoded by the COL4A3 gene in the human organism . Type IV collagen proteins are integral parts of the basement membrane , more precisely the lamina densa .
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. A cleavage fragment called turnstatin corresponds to the COL4A3 domain. In addition, the Turnstatin regulates the antiangiogenic and anti-tumor activity. These processes could be regulated by RGD- independent ITGB3-mediated mechanisms.
Gene structure
The COL4A3 gene contains 52 exons and spans over 88 kb. The gene also has two closely spaced transcription origins . 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 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 cause Goodpasture syndrome , for example . Autoantibodies bind to the collagen molecules in the basement membrane of the alveoli and kidney corpuscles . Epitopes that form these autoantibodies are mainly located on the non-collagenous C -terminal domain of the protein. A specific kinase phosphorylates amino acids in the same C -terminal region and the expression of this kinase is upregulated during pathogenesis . The gene is also linked to an autosomal recessive form of Alport's syndrome .
Individual evidence
- ↑ UniProt Q01955
- ↑ L. Heidet, C. Arrondel, L. Forestier, L. Cohen-Solal, G. Mollet, B. Gutierrez, C. Stavrou, MC Gubler, C. Antignac: Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome . In: J Am Soc Nephrol . 12, No. 1, January 2001, pp. 97-106. PMID 11134255 .
- ↑ M. Mariyama, A. Leinonen, T. Mochizuki, K. Tryggvason, ST Reeders: Complete primary structure of the human alpha 3 (IV) collagen chain. Coexpression of the alpha 3 (IV) and alpha 4 (IV) collagen chains in human tissues . (PDF) In: J Biol Chem . 269, No. 37, September 16, 1994, pp. 23013-23017. PMID 8083201 .
- ↑ 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 .
- ↑ COL4A3. In: GeneCards (English).
- ^ GeneID 1285
