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Gene Ontology Classifications
Symbol
Name
ID
Col11a1
collagen, type XI, alpha 1
MGI:88446

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Col11a1. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of December 21, 2012. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Cho H et al. (1991) Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho). Ann N Y Acad Sci, 630:259-61. (PubMed:1952599)
  2. Fernandes RJ et al. (2007) Collagen XI chain misassembly in cartilage of the chondrodysplasia (cho) mouse. Matrix Biol, 26:597-603. (PubMed:17683922)
  3. Li Y et al. (1995) A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis [see comments] Cell, 80:423-30. (PubMed:7859283)
  4. Lincoln J et al. (2006) ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development. Dev Dyn, 235:3295-305. (PubMed:17029294)
  5. Seegmiller R et al. (1971) A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis. J Cell Biol, 48:580-93. (PubMed:4100752)
  6. Seegmiller R et al. (1972) Studies on cartilage. VI. A genetically determined defect in tracheal cartilage. J Ultrastruct Res, 38:288-301. (PubMed:4110409)
  7. Seegmiller RE et al. (1988) Histochemical, immunofluorescence, and ultrastructural differences in fetal cartilage among three genetically distinct chondrodystrophic mice. Teratology, 38:579-92. (PubMed:3070812)
  8. Seegmiller RE et al. (1977) Mandibular growth retardation as a cause of cleft palate in mice homozygous for the chondrodysplasia gene. J Embryol Exp Morphol, 38:227-38. (PubMed:886247)
  9. Stephens TD et al. (1976) Normal production of cartilage glycosaminoglycan in mice homozygous for the chondrodysplasia gene. Teratology, 13:317-325.
  10. Wenstrup RJ et al. (2011) Regulation of Collagen Fibril Nucleation and Initial Fibril Assembly Involves Coordinate Interactions with Collagens V and XI in Developing Tendon. J Biol Chem, 286:20455-65. (PubMed:21467034)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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last database update
11/11/2014
MGI 5.20
The Jackson Laboratory