Collagen, type XI, alpha 1

Collagen, type XI, alpha 1
Identifiers
Symbols	COL11A1 ; CO11A1; COLL6; STL2
External IDs	OMIM: 120280 MGI: 88446 HomoloGene: 56389 GeneCards: COL11A1 Gene
Gene ontology Molecular function • extracellular matrix structural constituent • protein binding, bridging • metal ion binding • extracellular matrix binding Cellular component • extracellular region • collagen type XI trimer • endoplasmic reticulum lumen Biological process • cartilage condensation • ossification • chondrocyte development • proteoglycan metabolic process • visual perception • sensory perception of sound • extracellular matrix disassembly • extracellular matrix organization • collagen fibril organization • collagen catabolic process • endodermal cell differentiation • tendon development • inner ear morphogenesis • embryonic skeletal system morphogenesis • detection of mechanical stimulus involved in sensory perception of sound • ventricular cardiac muscle tissue morphogenesis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1301	12814
Ensembl	ENSG00000060718	ENSMUSG00000027966
UniProt	P12107	Q61245
RefSeq (mRNA)	NM_001190709	NM_007729
RefSeq (protein)	NP_001177638	NP_031755
Location (UCSC)	Chr 1: 102.88 – 103.11 Mb	Chr 3: 114.03 – 114.22 Mb
PubMed search

Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.^[1][2]

Function

The COL11A1 gene encodes 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. Three transcript variants encoding different isoforms have been identified for this gene.^[2]

Clinical significance

Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.^[2]

Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the COL11A1 gene. Features of Stickler syndrome type II include: sensorineural hearing loss, facial features (flat facial profile, anteverted nares, micrognathia), cleft palate, visual disturbances (type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment), spondyloepiphyseal dysplasia, and arthropathy.

References

1. Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F (Dec 1988). "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 (32): 17159–66. PMID 3182841.
2. "Entrez Gene: COL11A1 collagen, type XI, alpha 1".

External links

• GeneReviews/NCBI/NIH/UW entry on Stickler Syndrome

Further reading

• Yoshioka H, Ramirez F (1990). "Pro-alpha 1(XI) collagen. Structure of the amino-terminal propeptide and expression of the gene in tumor cell lines.". J. Biol. Chem. 265 (11): 6423–6. PMID 1690726.
• Hanson IM, Gorman P, Lui VC; et al. (1990). "The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6.". Genomics 5 (4): 925–31. doi:10.1016/0888-7543(89)90135-3. PMID 2591970.
• Henry I, Bernheim A, Bernard M; et al. (1989). "Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1.". Genomics 3 (1): 87–90. doi:10.1016/0888-7543(88)90165-6. PMID 3220479.
• Keene DR, Oxford JT, Morris NP (1995). "Ultrastructural localization of collagen types II, IX, and XI in the growth plate of human rib and fetal bovine epiphyseal cartilage: type XI collagen is restricted to thin fibrils.". J. Histochem. Cytochem. 43 (10): 967–79. doi:10.1177/43.10.7560887. PMID 7560887.
• Zhidkova NI, Justice SK, Mayne R (1995). "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 (16): 9486–93. doi:10.1074/jbc.270.16.9486. PMID 7721876.
• Yoshioka H, Greenwel P, Inoguchi K; et al. (1995). "Structural and functional analysis of the promoter of the human alpha 1(XI) collagen gene.". J. Biol. Chem. 270 (1): 418–24. doi:10.1074/jbc.270.1.418. PMID 7814404.
• Dharmavaram RM, Baldwin CT, Reginato AM, Jimenez SA (1993). "Amplification of cDNAs for human cartilage-specific types II, IX and XI collagens from chondrocytes and Epstein-Barr virus-transformed lymphocytes.". Matrix 13 (2): 125–33. doi:10.1016/s0934-8832(11)80071-5. PMID 8388073.
• Richards AJ, Yates JR, Williams R; et al. (1997). "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 (9): 1339–43. doi:10.1093/hmg/5.9.1339. PMID 8872475.
• Shrivastava A, Radziejewski C, Campbell E; et al. (1998). "An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors.". Mol. Cell 1 (1): 25–34. doi:10.1016/S1097-2765(00)80004-0. PMID 9659900.
• Annunen S, Körkkö J, Czarny M; et al. (2000). "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 (4): 974–83. doi:10.1086/302585. PMC 1288268. PMID 10486316.
• Fischer H, Salahshor S, Stenling R; et al. (2002). "COL11A1 in FAP polyps and in sporadic colorectal tumors.". BMC Cancer 1: 17. doi:10.1186/1471-2407-1-17. PMC 59693. PMID 11707154.
• Jun AS, Liu SH, Koo EH; et al. (2001). "Microarray analysis of gene expression in human donor corneas.". Arch. Ophthalmol. 119 (11): 1629–34. doi:10.1001/archopht.119.11.1629. PMID 11709013.
• Urabe K, Jingushi S, Ikenoue T; et al. (2002). "Immature osteoblastic cells express the pro-alpha2(XI) collagen gene during bone formation in vitro and in vivo.". J. Orthop. Res. 19 (6): 1013–20. doi:10.1016/S0736-0266(01)00043-2. PMID 11780999.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Melkoniemi M, Koillinen H, Männikkö M; et al. (2003). "Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.". Eur. J. Hum. Genet. 11 (3): 265–70. doi:10.1038/sj.ejhg.5200950. PMID 12673280.
• Matsuo N, Yu-Hua W, Sumiyoshi H; et al. (2003). "The transcription factor CCAAT-binding factor CBF/NF-Y regulates the proximal promoter activity in the human alpha 1(XI) collagen gene (COL11A1).". J. Biol. Chem. 278 (35): 32763–70. doi:10.1074/jbc.M305599200. PMID 12805369.
• Poulson AV, Hooymans JM, Richards AJ; et al. (2004). "Clinical features of type 2 Stickler syndrome.". J. Med. Genet. 41 (8): e107. doi:10.1136/jmg.2004.018382. PMC 1735871. PMID 15286167.
• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Majava M, Hoornaert KP, Bartholdi D; et al. (2007). "A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.". Am. J. Med. Genet. A 143 (3): 258–64. doi:10.1002/ajmg.a.31586. PMID 17236192.