Collagen Type XI Alpha 1 (COL11a1)

COL11-A1; CO11A1; COLL6; STL2; Collagen Alpha-1(XI)chain

SPN	U687
HGNC	2186
MGI	88446
PubMed	10486316
RGD	2372
UniProt	P12107
Wiki	COL11A1

Collagen alpha-1(XI) chain is one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. Three transcript variants encoding different isoforms have been identified for this gene.

The findings demonstrate that collagen XI is essential for normal formation of cartilage collagen fibrils and the cohesive properties of cartilage. The results also suggest that the normal differentiation and spatial organization of growth plate chondrocytes are critically dependent on the presence of type XI collagen in cartilage extracellular matrix.

Reference

"Pro-alpha 1(XI) collagen. Structure of the amino-terminal propeptide and expression of the gene in tumor cell lines."
J. Biol. Chem. 265:6423-6426(1990) [PubMed] [Europe PMC] [Abstract]

"Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes."
Am. J. Hum. Genet. 65:974-983(1999) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [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 sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue."
J. Biol. Chem. 263:17159-17166(1988) [PubMed] [Europe PMC] [Abstract]

"Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains."
J. Biol. Chem. 270:9486-9493(1995) [PubMed] [Europe PMC] [Abstract]

"A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen."
Hum. Mol. Genet. 5:1339-1343(1996) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene."
Am. J. Hum. Genet. 87:708-712(2010) [PubMed] [Europe PMC] [Abstract]

"Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1."
Hum. Mutat. 31:E1461-E1471(2010) [PubMed] [Europe PMC] [Abstract]