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 Tuesday, July 8, 2014.)

---

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]

---

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 ^[]
    • negative regulation of cell-substrate adhesion ^[]
    • protein heterotrimerization ^[]
  • performs the following molecular functions:
    • extracellular matrix structural constituent ^[]
  • is located in the following cellular components:
    • collagen trimer ^{[, , , , ]}
    • collagen type I trimer ^[]
    • cytoplasm ^[]
    • extracellular matrix ^{[, , , , , , ]}
    • proteinaceous extracellular matrix ^[]
• 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 ^[]
    • cartilage development involved in endochondral bone morphogenesis ^[]
    • endochondral ossification ^[]
    • protein transport ^[]
    • skeletal system development ^[]
    • skin development ^[]
  • is located in the following cellular components:
    • collagen trimer ^[]
    • collagen type I trimer ^[]
• 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 ^[]
    • face morphogenesis based on interactions with Mmp2 ^[]
    • intramembranous ossification based on interactions with Mmp2 ^[]
    • skeletal system morphogenesis based on interactions with Mmp2 ^[]

---

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 signaling pathway
    • positive regulation of cell migration
    • positive regulation of epithelial to mesenchymal transition
    • positive regulation of transcription, DNA-templated
    • 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 trimer
    • endoplasmic reticulum
    • extracellular matrix
    • extracellular space
    • Golgi apparatus
    • secretory granule

---

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

---

References

1. . () , :. (PubMed:)
2. . () , :. (PubMed:)
3. . () , :. (PubMed:)
4. . () , :. (PubMed:)
5. . () , :. (PubMed:)
6. . () , :. (PubMed:)
7. . () , :. (PubMed:)
8. . () , :. (PubMed:)
9. . () , :. (PubMed:)
10. . () , :. (PubMed:)
11. . () , :. (PubMed:)
12. . () , :. (PubMed:)
13. . () , :. (PubMed:)
14. . () , :. (PubMed:)
15. . () , :. (PubMed:)
16. . () , :. (PubMed:)
17. . () , :. (PubMed:)
18. . () , :. (PubMed:)
19. . () , :. (PubMed:)
20. . () , :. (PubMed:)
21. . () , :. (PubMed:)
22. . () , :. (PubMed:)
23. . () , :. (PubMed:)

---

---

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

---