U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 12842, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Col1a1 in Genome Data Viewer
    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_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 22456 Neighboring gene predicted gene, 46293 Neighboring gene STARR-positive B cell enhancer mm9_chr11:94798366-94798667 Neighboring gene STARR-seq mESC enhancer starr_30476 Neighboring gene sarcoglycan, alpha (dystrophin-associated glycoprotein) Neighboring gene H1.9 linker histone Neighboring gene STARR-positive B cell enhancer ABC_E7047 Neighboring gene STARR-seq mESC enhancer starr_30478 Neighboring gene STARR-seq mESC enhancer starr_30479 Neighboring gene STARR-positive B cell enhancer ABC_E3995 Neighboring gene protein phosphatase 1, regulatory subunit 9B Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:94859496-94859731 Neighboring gene predicted gene, 51875

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IEA
    Inferred from Electronic Annotation
    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 epidermal growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to fibroblast growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to fluoride IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to vitamin E IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to nucleus IEA
    Inferred from Electronic Annotation
    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 cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hyperoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to steroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    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
     
    involved_in 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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in tooth mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tooth mineralization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    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 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 TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA 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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in secretory granule ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_007742.4NP_031768.2  collagen alpha-1(I) chain preproprotein

      See identical proteins and their annotated locations for NP_031768.2

      Status: REVIEWED

      Source sequence(s)
      AK159283, AK159285, AL606480, AL662790, BQ032538, BY133378
      Consensus CDS
      CCDS25265.1
      UniProtKB/Swiss-Prot
      P11087, Q53WT0, Q60635, Q61367, Q61427, Q63919, Q6PCL3, Q810J9
      Related
      ENSMUSP00000001547.8, ENSMUST00000001547.8
      Conserved Domains (3) summary
      pfam01391
      Location:225284
      Collagen; Collagen triple helix repeat (20 copies)
      smart00214
      Location:3186
      VWC; von Willebrand factor (vWF) type C domain
      pfam01410
      Location:12191452
      COLFI; Fibrillar collagen C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      94827050..94843868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)