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    Col22a1 collagen, type XXII, alpha 1 [ Mus musculus (house mouse) ]

    Gene ID: 69700, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Col22a1provided by MGI
    Official Full Name
    collagen, type XXII, alpha 1provided by MGI
    Primary source
    MGI:MGI:1916950
    See related
    Ensembl:ENSMUSG00000079022 AllianceGenome:MGI:1916950
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2310067L16Rik
    Summary
    Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in extracellular matrix organization. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including central nervous system; chondrocranium; femur; and neural retina. Human ortholog(s) of this gene implicated in intracranial aneurysm. Orthologous to human COL22A1 (collagen type XXII alpha 1 chain). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 11.9), limb E14.5 (RPKM 2.3) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Col22a1 in Genome Data Viewer
    Location:
    15 D3; 15 32.31 cM
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (71667644..71906087, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (71795795..72150979, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 22519 Neighboring gene eukaryotic translation initiation factor 4A2 pseudogene Neighboring gene predicted gene 16308 Neighboring gene STARR-positive B cell enhancer mm9_chr15:71748108-71748408 Neighboring gene STARR-seq mESC enhancer starr_38924 Neighboring gene STARR-seq mESC enhancer starr_38925 Neighboring gene STARR-seq mESC enhancer starr_38926 Neighboring gene STARR-seq mESC enhancer starr_38927 Neighboring gene predicted gene, 23217 Neighboring gene STARR-seq mESC enhancer starr_38928 Neighboring gene STARR-seq mESC enhancer starr_38929 Neighboring gene STARR-seq mESC enhancer starr_38930 Neighboring gene STARR-seq mESC enhancer starr_38931 Neighboring gene STARR-seq mESC enhancer starr_38932 Neighboring gene predicted gene, 52221

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Decreased Trabecular Bone Mass in Col22a1-Deficient Mice. Zhao W, et al. Cells, 2021 Nov 4. PMID 34831244, Free PMC Article
    2. Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1. Leung AOW, et al. Nat Commun, 2024 Mar 12. PMID 38472182, Free PMC Article
    3. Polycomb EZH2 controls self-renewal and safeguards the transcriptional identity of skeletal muscle stem cells. Juan AH, et al. Genes Dev, 2011 Apr 15. PMID 21498568, Free PMC Article
    4. Mechanical loading is required for initiation of extracellular matrix deposition at the developing murine myotendinous junction. Lipp SN, et al. Matrix Biol, 2023 Feb. PMID 36709857, Free PMC Article
    5. Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis. Holmes G, et al. Cell Rep, 2020 Jul 7. PMID 32640236, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Decreased Trabecular Bone Mass in Col22a1-Deficient Mice.
      Title: Decreased Trabecular Bone Mass in Col22a1-Deficient Mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (6) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent conferring tensile strength IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in basement membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    collagen alpha-1(XXII) chain

    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.

    mRNA and Protein(s)

    1. NM_027174.1 → NP_081450.1  collagen alpha-1(XXII) chain precursor

      See identical proteins and their annotated locations for NP_081450.1

      Status: VALIDATED

      Source sequence(s)
      AC123689, AC157602, AC168214
      Consensus CDS
      CCDS49627.1
      UniProtKB/TrEMBL
      E9Q7P1
      Related
      ENSMUSP00000125069.2, ENSMUST00000159993.8
      Conserved Domains (3) summary
      pfam01391
      Location:760 → 817
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:47 → 228
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl22861
      Location:248 → 435
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      71667644..71906087 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521381.4 → XP_006521444.1  collagen alpha-1(XXII) chain isoform X2

      See identical proteins and their annotated locations for XP_006521444.1

      UniProtKB/TrEMBL
      E9Q7P1
      Conserved Domains (3) summary
      pfam01391
      Location:760 → 817
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:47 → 228
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl22861
      Location:248 → 435
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    2. XM_036159577.1 → XP_036015470.1  collagen alpha-1(XXII) chain isoform X1

      Conserved Domains (3) summary
      pfam01391
      Location:779 → 833
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:63 → 244
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl22861
      Location:264 → 451
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    3. XM_006521383.2 → XP_006521446.1  collagen alpha-1(XXII) chain isoform X3

      UniProtKB/TrEMBL
      A0A2R8W6Z9
      Related
      ENSMUSP00000155641.2, ENSMUST00000229585.2
      Conserved Domains (1) summary
      pfam01391
      Location:205 → 262
      Collagen; Collagen triple helix repeat (20 copies)
    Nucleotide Protein Strain
    Heading Accession and Version

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