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    Col19a1 collagen, type XIX, alpha 1 [ Mus musculus (house mouse) ]

    Gene ID: 12823, updated on 8-May-2024

    Summary

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    Official Symbol
    Col19a1provided by MGI
    Official Full Name
    collagen, type XIX, alpha 1provided by MGI
    Primary source
    MGI:MGI:1095415
    See related
    Ensembl:ENSMUSG00000026141 AllianceGenome:MGI:1095415
    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
    Summary
    Predicted to be an extracellular matrix structural constituent. Acts upstream of or within extracellular matrix organization and skeletal muscle tissue development. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix and extracellular space. Is expressed in several structures, including bone; brain; genital tubercle; musculature; and sensory organ. Orthologous to human COL19A1 (collagen type XIX alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cortex adult (RPKM 2.9), frontal lobe adult (RPKM 2.4) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Col19a1 in Genome Data Viewer
    Location:
    1 A5; 1 9.99 cM
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (24296764..24627870, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (24257683..24587922, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 135, member A Neighboring gene STARR-seq mESC enhancer starr_00445 Neighboring gene predicted gene, 30756 Neighboring gene collagen, type IX, alpha 1 Neighboring gene STARR-seq mESC enhancer starr_00447 Neighboring gene STARR-seq mESC enhancer starr_00448 Neighboring gene STARR-seq mESC enhancer starr_00450 Neighboring gene STARR-seq mESC enhancer starr_00451 Neighboring gene predicted gene, 26418 Neighboring gene tubulin, beta 4B class IVB, pseudogene 2 Neighboring gene predicted gene 10222

    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. Abnormalities in esophageal smooth muscle induced by mutations in collagen XIX. Sato H, et al. Histochem Cell Biol, 2022 Feb. PMID 34993640
    2. Loss of Interneuron-Derived Collagen XIX Leads to a Reduction in Perineuronal Nets in the Mammalian Telencephalon. Su J, et al. ASN Neuro, 2017 Feb. PMID 28090790, Free PMC Article
    3. Collagen XIX is expressed by interneurons and contributes to the formation of hippocampal synapses. Su J, et al. J Comp Neurol, 2010 Jan 10. PMID 19937713, Free PMC Article
    4. Trimerization and triple helix stabilization of the collagen XIX NC2 domain. Boudko SP, et al. J Biol Chem, 2008 Dec 5. PMID 18845531, Free PMC Article
    5. Structure of the human type XIX collagen (COL19A1) gene, which suggests it has arisen from an ancestor gene of the FACIT family. Khaleduzzaman M, et al. Genomics, 1997 Oct 15. PMID 9344653

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Abnormalities in esophageal smooth muscle induced by mutations in collagen XIX.
      Title: Abnormalities in esophageal smooth muscle induced by mutations in collagen XIX.
    2. Interaction of Axonal Chondrolectin with Collagen XIXa1 Is Necessary for Precise Neuromuscular Junction Formation.
      Title: Interaction of Axonal Chondrolectin with Collagen XIXa1 Is Necessary for Precise Neuromuscular Junction Formation.
    3. The results of this study suggested a mechanism by which the loss of collagen XIX speeds Perineuronal Nets degradation in Telencephalon degradation.
      Title: Loss of Interneuron-Derived Collagen XIX Leads to a Reduction in Perineuronal Nets in the Mammalian Telencephalon.
    4. these data not only reveal that collagen XIX is expressed by central neurons, but show for the first time that a nonfibrillar collagen is necessary for the formation of hippocampal synapses
      Title: Collagen XIX is expressed by interneurons and contributes to the formation of hippocampal synapses.
    5. The NC2 domain of collagen XIX and probably of other FACITs is responsible for chain selection and trimerization
      Title: Trimerization and triple helix stabilization of the collagen XIX NC2 domain.
    6. Collagen XIX has a role in esophageal muscle development and function
      Title: Esophageal muscle physiology and morphogenesis require assembly of a collagen XIX-rich basement membrane zone.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Pathways from PubChem

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    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
    acts_upstream_of_or_within cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within extracellular matrix organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    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(XIX) chain
    Names
    collagen alpha-1(Y) chain
    procollagen, type XIX, 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.

    mRNA and Protein(s)

    1. NM_007733.2 → NP_031759.2  collagen alpha-1(XIX) chain precursor

      See identical proteins and their annotated locations for NP_031759.2

      Status: VALIDATED

      Source sequence(s)
      AC130201, AC153653, AK019854, AK149136, BC118970, BY247446
      Consensus CDS
      CCDS14854.1
      UniProtKB/Swiss-Prot
      O35053, Q0VF58
      UniProtKB/TrEMBL
      F8WHV4
      Related
      ENSMUSP00000110899.3, ENSMUST00000115244.9
      Conserved Domains (2) summary
      pfam01391
      Location:519 → 576
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:50 → 229
      TSPN; Thrombospondin N-terminal -like domains

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      24296764..24627870 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006495645.5 → XP_006495708.1  collagen alpha-1(XIX) chain isoform X4

      See identical proteins and their annotated locations for XP_006495708.1

      UniProtKB/Swiss-Prot
      O35053, Q0VF58
      UniProtKB/TrEMBL
      F8WHV4
      Conserved Domains (2) summary
      pfam01391
      Location:519 → 576
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:50 → 229
      TSPN; Thrombospondin N-terminal -like domains

    2. XM_030245411.2 → XP_030101271.1  collagen alpha-1(XIX) chain isoform X6

      UniProtKB/TrEMBL
      F8WHV4
      Conserved Domains (2) summary
      pfam01391
      Location:515 → 572
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:76 → 255
      TSPN; Thrombospondin N-terminal -like domains

    3. XM_006495646.5 → XP_006495709.1  collagen alpha-1(XIX) chain isoform X5

      UniProtKB/TrEMBL
      F8WHV4
      Conserved Domains (2) summary
      pfam01391
      Location:515 → 572
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:76 → 255
      TSPN; Thrombospondin N-terminal -like domains

    4. XM_006495644.5 → XP_006495707.1  collagen alpha-1(XIX) chain isoform X3

      UniProtKB/TrEMBL
      F8WHV4
      Conserved Domains (2) summary
      pfam01391
      Location:527 → 584
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:76 → 255
      TSPN; Thrombospondin N-terminal -like domains

    5. XM_006495643.5 → XP_006495706.1  collagen alpha-1(XIX) chain isoform X2

      UniProtKB/TrEMBL
      F8WHV4
      Conserved Domains (2) summary
      pfam01391
      Location:545 → 602
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:76 → 255
      TSPN; Thrombospondin N-terminal -like domains

    6. XM_006495642.5 → XP_006495705.1  collagen alpha-1(XIX) chain isoform X1

      UniProtKB/TrEMBL
      F8WHV4
      Conserved Domains (2) summary
      pfam01391
      Location:545 → 602
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:76 → 255
      TSPN; Thrombospondin N-terminal -like domains
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VF58.2 GenPept UniProtKB/Swiss-Prot:Q0VF58

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