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 Tuesday, May 21, 2013.) 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.

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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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Col11a1
  • is located in the following cellular components:
    • collagen ^[2]
    • extracellular matrix ^[4]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Col11a1
  • participates in the following biological processes:
    • cartilage condensation ^[7]
    • cartilage development ^{[3, 5, 6, 8, 9]}
    • chondrocyte development ^[5]
    • collagen fibril organization ^{[2, 3, 4, 5, 6, 7, 10]}
    • embryonic skeletal system morphogenesis ^[5]
    • inner ear morphogenesis ^[1]
    • proteoglycan metabolic process ^[7]
    • skeletal system morphogenesis ^[3]
    • tendon development ^[10]
    • ventricular cardiac muscle tissue morphogenesis ^[4]
• Researchers have inferred, based on genetic interactions, that the gene product of Col11a1
  • participates in the following biological processes:
    • collagen fibril organization based on interactions with Col5a1 ^{[4, 10]}
    • heart morphogenesis based on interactions with Col5a1 ^[4]
    • tendon development based on interactions with Col5a1 ^[10]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Col11a1:
  • participates in the following biological processes:
    • detection of mechanical stimulus involved in sensory perception of sound
    • sensory perception of sound
    • visual perception
  • is located in the following cellular components:
    • collagen type XI
    • extracellular matrix

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Summary text based on GO annotations supported by structural data

• Col11a1 encodes a protein or proteins that contain the following InterPro domains: Collagen triple helix repeat, Concanavalin A-like lectin/glucanase, subgroup, Concanavalin A-like lectin/glucanases superfamily, Fibrillar collagen, C-terminal, Laminin G domain, indicating that the gene product:
  • performs the following molecular functions:
    • extracellular matrix structural constituent

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Col11a1 indicates that it:
  • performs the following molecular functions:
    • metal ion binding
  • is located in the following cellular components:
    • extracellular region
    • proteinaceous extracellular matrix
• Annotations directly to for the gene Col11a1 indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.

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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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