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Protein Coding Gene : Col3a1 collagen, type III, alpha 1

Primary Identifier  MGI:88453 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  12825
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables SMAD binding activity. Involved in several processes, including extracellular matrix organization; neurogenesis; and skeletal system development. Acts upstream of or within blood vessel development and cellular response to amino acid stimulus. Located in extracellular matrix. Part of collagen type III trimer. Is expressed in several structures, including central nervous system; embryo mesenchyme; exocrine system; genitourinary system; and heart and pericardium. Used to study systemic scleroderma and vascular type Ehlers-Danlos syndrome. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome; Ehlers-Danlos syndrome hypermobility type; end stage renal disease; and vascular type Ehlers-Danlos syndrome. Orthologous to human COL3A1 (collagen type III alpha 1 chain).
PHENOTYPE: Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin. [provided by MGI curators]
  • synonyms:
  • MGI:2138608,
  • MGI:98851,
  • collagen, type III, alpha 1,
  • procollagen type III, alpha 1,
  • MGD-MRK-2065,
  • Col3a-1,
  • tight skin 2,
  • Col3a1,
  • AW550625,
  • MGD-MRK-2064,
  • Tsk2,
  • expressed sequence AW550625,
  • MGD-MRK-15278,
  • MGD-MRK-15277,
  • Tsk-2

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 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

24 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

0 Driver For