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    COL22A1 collagen type XXII alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 169044, updated on 15-Apr-2019

    Summary

    Official Symbol
    COL22A1provided by HGNC
    Official Full Name
    collagen type XXII alpha 1 chainprovided by HGNC
    Primary source
    HGNC:HGNC:22989
    See related
    Ensembl:ENSG00000169436 MIM:610026
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]
    Expression
    Biased expression in adrenal (RPKM 3.6), prostate (RPKM 1.2) and 7 other tissues See more
    Orthologs

    Genomic context

    See COL22A1 in Genome Data Viewer
    Location:
    8q24.23-q24.3
    Exon count:
    71
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (138588235..138914087, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (139600478..139926236, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC401478 Neighboring gene family with sequence similarity 135 member B Neighboring gene uncharacterized LOC105375777 Neighboring gene potassium two pore domain channel subfamily K member 9 Neighboring gene uncharacterized LOC107986981 Neighboring gene trafficking protein particle complex 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen chain trimerization, organism-specific biosystem (from REACTOME)
      Collagen chain trimerization, organism-specific biosystemThe C-propeptides of collagen propeptide chains are essential for the association of three peptide chains into a trimeric but non-helical procollagen. This initial binding event determines the compo...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    collagen alpha-1(XXII) chain

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_054761.1 RefSeqGene

      Range
      5082..330853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152888.3NP_690848.1  collagen alpha-1(XXII) chain precursor

      See identical proteins and their annotated locations for NP_690848.1

      Status: REVIEWED

      Source sequence(s)
      AC068476, AF406780, BC144535, BX094632
      Consensus CDS
      CCDS6376.1
      UniProtKB/Swiss-Prot
      Q8NFW1
      Related
      ENSP00000303153.6, ENST00000303045.11
      Conserved Domains (3) summary
      pfam01391
      Location:654704
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:36219
      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:239426
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      138588235..138914087 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013150.2XP_016868639.1  collagen alpha-1(XXII) chain isoform X5

    2. XM_011516886.3XP_011515188.1  collagen alpha-1(XXII) chain isoform X4

      Conserved Domains (3) summary
      pfam01391
      Location:625675
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:36190
      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:210397
      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_011516884.2XP_011515186.1  collagen alpha-1(XXII) chain isoform X2

      Related
      ENSP00000387655.2, ENST00000435777.2
      Conserved Domains (3) summary
      pfam01391
      Location:641691
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:36219
      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:239426
      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 ...
    4. XM_017013151.1XP_016868640.1  collagen alpha-1(XXII) chain isoform X6

    5. XM_011516885.2XP_011515187.1  collagen alpha-1(XXII) chain isoform X3

      Conserved Domains (3) summary
      pfam01391
      Location:654704
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:36219
      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:239426
      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 ...
    6. XM_011516883.2XP_011515185.1  collagen alpha-1(XXII) chain isoform X1

      UniProtKB/Swiss-Prot
      Q8NFW1
      Conserved Domains (3) summary
      pfam01391
      Location:654704
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:36219
      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:239426
      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 ...
    7. XM_011516887.2XP_011515189.1  collagen alpha-1(XXII) chain isoform X7

      Conserved Domains (2) summary
      pfam01391
      Location:312362
      Collagen; Collagen triple helix repeat (20 copies)
      cl22861
      Location:784
      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 ...
    8. XM_017013152.1XP_016868641.1  collagen alpha-1(XXII) chain isoform X7

      Conserved Domains (2) summary
      pfam01391
      Location:312362
      Collagen; Collagen triple helix repeat (20 copies)
      cl22861
      Location:784
      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 ...
    9. XM_011516889.2XP_011515191.1  collagen alpha-1(XXII) chain isoform X9

      Conserved Domains (1) summary
      pfam01391
      Location:106156
      Collagen; Collagen triple helix repeat (20 copies)
    10. XM_011516888.2XP_011515190.1  collagen alpha-1(XXII) chain isoform X8

      Conserved Domains (3) summary
      pfam01391
      Location:654704
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:36219
      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:239426
      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 ...

    RNA

    1. XR_001745487.1 RNA Sequence

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