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

GO curators for mouse genes have assigned the following annotations to the gene product of Col1a1. (This text reflects annotations as of Wednesday, August 14, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of December 23, 2008. 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 the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

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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 Col1a1
  • participates in the following biological processes:
    • cellular response to amino acid stimulus ^[19]
    • negative regulation of cell-substrate adhesion ^[16]
    • protein heterotrimerization ^[2]
  • performs the following molecular functions:
    • extracellular matrix structural constituent ^[23]
  • is located in the following cellular components:
    • collagen ^{[1, 3, 5, 6, 23]}
    • collagen type I ^[21]
    • cytoplasm ^[21]
    • extracellular matrix ^{[7, 8, 9, 10, 12, 13, 17]}
    • proteinaceous extracellular matrix ^[22]
• The gene product of Col1a1 has been shown to bind to the gene products of Bmp2, Col1a1, Col1a2, Tgfb1. ^{[2, 12, 16]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Col1a1
  • participates in the following biological processes:
    • blood vessel development ^[20]
    • cartilage development involved in endochondral bone morphogenesis ^[14]
    • endochondral ossification ^[11]
    • protein transport ^[9]
    • skeletal system development ^[18]
    • skin development ^[14]
  • is located in the following cellular components:
    • collagen ^[20]
    • collagen type I ^[15]
• Researchers have inferred, based on genetic interactions, that the gene product of Col1a1
  • participates in the following biological processes:
    • bone trabecula formation based on interactions with Mmp2 ^[4]
    • face morphogenesis based on interactions with Mmp2 ^[4]
    • intramembranous ossification based on interactions with Mmp2 ^[4]
    • skeletal system morphogenesis based on interactions with Mmp2 ^[4]

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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 Col1a1:
  • participates in the following biological processes:
    • blood vessel development
    • collagen biosynthetic process
    • collagen fibril organization
    • embryonic skeletal system development
    • positive regulation of canonical Wnt receptor signaling pathway
    • positive regulation of cell migration
    • positive regulation of epithelial to mesenchymal transition
    • positive regulation of transcription, DNA-dependent
    • protein localization to nucleus
    • sensory perception of sound
    • skeletal system development
    • skin morphogenesis
    • tooth mineralization
    • visual perception
    • wound healing
  • performs the following molecular functions:
    • identical protein binding
    • platelet-derived growth factor binding
  • is located in the following cellular components:
    • collagen type I
    • extracellular matrix
    • extracellular space

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Col1a1 indicates that it:
  • performs the following molecular functions:
    • metal ion binding
  • is located in the following cellular components:
    • extracellular region

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References

1. Andrikopoulos K et al. (1995) Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly. Nat Genet, 9:31-6. (PubMed:7704020)
2. Balk ML et al. (1997) Effect of rhBMP-2 on the osteogenic potential of bone marrow stromal cells from an osteogenesis imperfecta mouse (oim). Bone, 21:7-15. (PubMed:9213002)
3. Buck M et al. (1996) Tumor necrosis factor-alpha inhibits collagen alpha1(I) gene expression and wound healing in a murine model of cachexia. Am J Pathol, 149:195-204. (PubMed:8686743)
4. Egeblad M et al. (2007) Type I collagen is a genetic modifier of matrix metalloproteinase 2 in murine skeletal development. Dev Dyn, 236:1683-93. (PubMed:17440987)
5. Forlino A et al. (1999) Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. J Biol Chem, 274:37923-31. (PubMed:10608859)
6. Forlino A et al. (2007) Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI. Matrix Biol, 26:604-14. (PubMed:17662583)
7. He CJ et al. (1995) Relationships between mesangial cell proliferation and types I and IV collagen mRNA levels in vitro. Am J Physiol, 269:C554-62. (PubMed:7573384)
8. Heine UI et al. (1990) Colocalization of TGF-beta 1 and collagen I and III, fibronectin and glycosaminoglycans during lung branching morphogenesis. Development, 109:29-36. (PubMed:2209468)
9. Iruela-Arispe ML et al. (1996) Type I collagen-deficient Mov-13 mice do not retain SPARC in the extracellular matrix: implications for fibroblast function. Dev Dyn, 207:171-83. (PubMed:8906420)
10. Keely PJ et al. (1995) The spatial and temporal expression of the alpha 2 beta 1 integrin and its ligands, collagen I, collagen IV, and laminin, suggest important roles in mouse mammary morphogenesis. Differentiation, 59:1-13. (PubMed:7589890)
11. Kratochwil K et al. (1993) Restricted expression of Mov13 mutant alpha 1(I) collagen gene in osteoblasts and its consequences for bone development. Dev Dyn, 198:273-83. (PubMed:8130375)
12. Lamande SR et al. (1995) The type I collagen pro alpha 1(I) COOH-terminal propeptide N-linked oligosaccharide. Functional analysis by site-directed mutagenesis. J Biol Chem, 270:17858-65. (PubMed:7629088)
13. Lincoln J et al. (2006) ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development. Dev Dyn, 235:3295-305. (PubMed:17029294)
14. Lisse TS et al. (2008) ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta. PLoS Genet, 4:e7. (PubMed:18248096)
15. Liu X et al. (1995) A targeted mutation at the known collagenase cleavage site in mouse type I collagen impairs tissue remodeling. J Cell Biol, 130:227-37. (PubMed:7790374)
16. Oganesian A et al. (2006) The NH2-terminal propeptide of type I procollagen acts intracellularly to modulate cell function. J Biol Chem, 281:38507-18. (PubMed:17018525)
17. Ohsaki Y et al. (1995) Localization of types I and III collagen and fibronectin in the developing mouse palatal shelves. Acta Anat (Basel), 153:161-7. (PubMed:8984825)
18. Pereira R et al. (1994) Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1). J Clin Invest, 93:1765-9. (PubMed:8163675)
19. Pogribny IP et al. (2010) Difference in expression of hepatic microRNAs miR-29c, miR-34a, miR-155, and miR-200b is associated with strain-specific susceptibility to dietary nonalcoholic steatohepatitis in mice. Lab Invest, 90:1437-46. (PubMed:20548288)
20. Rahkonen O et al. (2004) Mice with a deletion in the first intron of the Col1a1 gene develop age-dependent aortic dissection and rupture. Circ Res, 94:83-90. (PubMed:14630726)
21. Shroff B et al. (1994) Dynamic variations in the expression of type I collagen and its molecular chaperone Hsp47 in cells of the mouse dental follicle during tooth eruption. Arch Oral Biol, 39:231-43. (PubMed:8018053)
22. Unda FJ et al. (2000) Dissection of the odontoblast differentiation process in vitro by a combination of FGF1, FGF2, and TGFbeta1. Dev Dyn, 218:480-9. (PubMed:10878613)
23. Wenstrup RJ et al. (2004) Type V collagen controls the initiation of collagen fibril assembly. J Biol Chem, 279:53331-7. (PubMed:15383546)

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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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