|  Help  |  About  |  Contact Us

Protein Coding Gene : Col1a1 collagen, type I, alpha 1

Primary Identifier  MGI:88467 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  12842
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables identical protein binding activity. An extracellular matrix structural constituent. Involved in cellular response to mechanical stimulus and osteoblast differentiation. Acts upstream of or within several processes, including face morphogenesis; intramembranous ossification; and skeletal system morphogenesis. Located in collagen-containing extracellular matrix; cytoplasm; and extracellular space. Part of collagen type I trimer. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart and pericardium; limb; and skeleton. Used to study several diseases, including D-2-hydroxyglutaric aciduria; Diamond-Blackfan anemia; hepatocellular carcinoma; lung cancer (multiple); and osteogenesis imperfecta (multiple). Human ortholog(s) of this gene implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. Orthologous to human COL1A1 (collagen type I alpha 1 chain).
PHENOTYPE: Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-2087,
  • Cola-1,
  • MGD-MRK-12362,
  • Col1a1,
  • MGD-MRK-2089,
  • MGD-MRK-2059,
  • Col1a-1,
  • Moloney leukemia virus 13,
  • Cola1,
  • collagen, type I, alpha 1,
  • MGD-MRK-12380,
  • Mov-13

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

4 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

26 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

11 Driver For