Collagen, type XI, alpha 1

COL11A1
Identifiers
Aliases	COL11A1, collagen, type XI, alpha 1, CO11A1, COLL6, STL2, collagen type XI alpha 1, collagen type XI alpha 1 chain, DFNA37
External IDs	OMIM: 120280 MGI: 88446 HomoloGene: 56389 GeneCards: COL11A1
Gene location (Human) Chr. Chromosome 1 (human) Band 1p21.1 Start 102,876,467 bp End 103,108,872 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3 F3|3 49.35 cM Start 113,824,189 bp End 114,014,367 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia periodontal fiber Achilles tendon ganglionic eminence germinal epithelium hair follicle optic nerve visceral pleura Brodmann area 23 amygdala Top expressed in body of femur calvaria molar fossa condyle intercostal muscle utricle ankle sexually immature organism vas deferens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-macromolecule adaptor activity metal ion binding extracellular matrix binding extracellular matrix structural constituent heparin binding heparan sulfate binding extracellular matrix structural constituent conferring tensile strength Cellular component collagen endoplasmic reticulum lumen collagen type XI trimer extracellular matrix extracellular region collagen-containing extracellular matrix extracellular space Biological process embryonic skeletal system morphogenesis endodermal cell differentiation ossification tendon development skeletal system morphogenesis chondrocyte development heart morphogenesis sensory perception of sound detection of mechanical stimulus involved in sensory perception of sound ventricular cardiac muscle tissue morphogenesis cartilage development proteoglycan metabolic process inner ear morphogenesis cartilage condensation visual perception extracellular matrix organization collagen fibril organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1301 12814 Ensembl ENSG00000060718 ENSMUSG00000027966 UniProt P12107 Q61245 RefSeq (mRNA) NM_001190709 NM_001854 NM_080629 NM_080630 NM_007729 RefSeq (protein) NP_001177638 NP_001845 NP_542196 NP_542197 NP_031755 Location (UCSC) Chr 1: 102.88 – 103.11 Mb Chr 3: 113.82 – 114.01 Mb PubMed search
Wikidata
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Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.

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.

Clinical significance

Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.

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.

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. doi:10.1016/S0021-9258(19)39343-3. 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. Bibcode:2002PNAS...9916899M. 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. S2CID 43244117.