Col1a1 collagen, type I, alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col1a1provided by MGI
Official Full Name: collagen, type I, alpha 1provided by MGI
Primary source: MGI:MGI:88467
See related: Ensembl:ENSMUSG00000001506 AllianceGenome:MGI:88467
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cola1; Mov13; Cola-1; Mov-13; Col1a-1
Summary: This gene encodes the alpha-1 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-2 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice lacking the encoded protein die in utero caused by the rupture of a major blood vessel. Transgenic mice expressing significantly lower levels of this gene exhibit morphological and functional defects in mineralized and non-mineralized connective tissue and, progressive loss of hearing. [provided by RefSeq, Nov 2015]
Expression: Biased expression in limb E14.5 (RPKM 527.2), bladder adult (RPKM 493.7) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 59.01 cM; 11 D

Exon count:: 51

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (94827050..94843868)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (94936224..94953042)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Col1a1 mediates the focal adhesion pathway affecting hearing in miR-29a mouse model by RNA-seq analysis.
Title: Col1a1 mediates the focal adhesion pathway affecting hearing in miR-29a mouse model by RNA-seq analysis.
hsa_circ_0020378 regulating miR-339-3p/COL1A1 promotes osteosarcoma progression.
Title: hsa_circ_0020378 regulating miR-339-3p/COL1A1 promotes osteosarcoma progression.
CXCL9 Links Skin Inflammation and Fibrosis through CXCR3-Dependent Upregulation of Col1a1 in Fibroblasts.
Title: CXCL9 Links Skin Inflammation and Fibrosis through CXCR3-Dependent Upregulation of Col1a1 in Fibroblasts.
Type-I collagen produced by distinct fibroblast lineages reveals specific function during embryogenesis and Osteogenesis Imperfecta.
Title: Type-I collagen produced by distinct fibroblast lineages reveals specific function during embryogenesis and Osteogenesis Imperfecta.
Mutation of the 5'-untranslated region stem-loop mRNA structure reduces type I collagen deposition and arterial stiffness in male obese mice.
Title: Mutation of the 5'-untranslated region stem-loop mRNA structure reduces type I collagen deposition and arterial stiffness in male obese mice.
Modification of COL1A1 in Autologous Adipose Tissue-Derived Progenitor Cells Rescues the Bone Phenotype in a Mouse Model of Osteogenesis Imperfecta.
Title: Modification of COL1A1 in Autologous Adipose Tissue-Derived Progenitor Cells Rescues the Bone Phenotype in a Mouse Model of Osteogenesis Imperfecta.
Collagen Characterization in a Model of Nonalcoholic Steatohepatitis with Fibrosis; A Call for Development of Targeted Therapeutics.
Title: Collagen Characterization in a Model of Nonalcoholic Steatohepatitis with Fibrosis; A Call for Development of Targeted Therapeutics.
Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.
Title: Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.
Prothymosin alpha activates type I collagen to develop a fibrotic placenta in gestational diabetes.
Title: Prothymosin α activates type I collagen to develop a fibrotic placenta in gestational diabetes.
TGF-beta Regulates Collagen Type I Expression in Myoblasts and Myotubes via Transient Ctgf and Fgf-2 Expression.
Title: TGF-β Regulates Collagen Type I Expression in Myoblasts and Myotubes via Transient Ctgf and Fgf-2 Expression.

Submit: New GeneRIF Correction See all GeneRIFs (104)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Transgenic (1) 1 citation
Targeted (207) 1 citation
Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC150841P1 (e-PCR)
- UniSTS:271113

COL1A1 (e-PCR)
- UniSTS:504624

Col1a1 (e-PCR), detects polymorphism
- UniSTS:141373

Col1a1 (e-PCR), detects polymorphism
- UniSTS:141374

PMC34669P1 (e-PCR)
- UniSTS:273227

Col1a1 (e-PCR), detects polymorphism
- UniSTS:280396

PMC151926P1 (e-PCR)
- UniSTS:271192

Col1a1 (e-PCR), detects polymorphism
- UniSTS:531305

PMC316641P1 (e-PCR)
- UniSTS:273025

PMC114431P1 (e-PCR)
- UniSTS:270266

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent conferring tensile strength	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor binding	ISO Inferred from Sequence Orthology more info
enables protease binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood vessel development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within bone trabecula formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cartilage development involved in endochondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to amino acid stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in collagen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in collagen fibril organization	ISO Inferred from Sequence Orthology more info
involved_in collagen fibril organization	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within collagen-activated tyrosine kinase receptor signaling pathway	ISO Inferred from Sequence Orthology more info	PubMed
involved_in embryonic skeletal system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within face morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intramembranous ossification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of cell-substrate adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in ossification	IBA Inferred from Biological aspect of Ancestor more info
involved_in osteoblast differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in protein localization to nucleus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to mechanical stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal system morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in skin development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in tooth mineralization	ISO Inferred from Sequence Orthology more info
involved_in visual perception	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of collagen trimer	IDA Inferred from Direct Assay more info	PubMed
part_of collagen trimer	IMP Inferred from Mutant Phenotype more info	PubMed
part_of collagen type I trimer	IBA Inferred from Biological aspect of Ancestor more info
part_of collagen type I trimer	IDA Inferred from Direct Assay more info	PubMed
part_of collagen type I trimer	IMP Inferred from Mutant Phenotype more info	PubMed
part_of collagen type I trimer	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: collagen alpha-1(I) chain

Names: alpha-1 type 1 collagen; alpha-1 type I collagen; procollagen, type I, alpha 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.