Collagen Type III Alpha 1 (COL3a1)

COL3-A1; COL3A1; EDS4A; Collagen Type III Alpha 1; Ehlers-Danlos Syndrome Type IV Autosomal Dominant; Collagen Alpha-1(III)chain

SPN	T587
HGNC	2201
MGI	88453
PubMed	21637106
RGD	71029
UniProt	P02461
Wiki	COL3A1

Collagen alpha-1(III) chain is a fibrillar collagen that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. Although alternate transcripts have been detected for this gene, they are the result of mutations; these mutations alter splicing, often leading to the exclusion of multiple exons.

By fluorescence in situ hybridization, Limongi et al. (1997) concluded that the COL3A1 gene is located in chromosome band 2q32.2 and that the nebulin gene is located in band 2q24.2; the FRA2G fragile site was found to lie between the 2 genes in the 2q31 band.

Reference

"Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences."
Biochem. J. 260:509-516(1989) [PubMed] [Europe PMC] [Abstract]

"Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes."
Matrix Biol. 20:357-366(2001) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1)."
Gene 78:255-265(1989) [PubMed] [Europe PMC] [Abstract]

"Nucleotide sequence of a cDNA coding for the amino-terminal region of human prepro alpha 1(III) collagen."
Nucleic Acids Res. 16:7201-7201(1988) [PubMed] [Europe PMC] [Abstract]

"Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen."
Nucleic Acids Res. 17:6742-6742(1989) [PubMed] [Europe PMC] [Abstract]

"Covalent structure of collagen: amino acid sequence of cyanogen bromide peptides from the amino-terminal segment of type III collagen of human liver."
Biochemistry 16:1158-1164(1977) [PubMed] [Europe PMC] [Abstract]