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    col6a3 collagen, type VI, alpha 3 [ Danio rerio (zebrafish) ]

    Gene ID: 556874, updated on 9-Dec-2024

    Summary

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    Official Symbol
    col6a3provided by ZNC
    Official Full Name
    collagen, type VI, alpha 3provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-070501-8
    See related
    AllianceGenome:ZFIN:ZDB-GENE-070501-8
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    wu:fb06e12; wu:fs74g09
    Summary
    Predicted to enable serine-type endopeptidase inhibitor activity. Acts upstream of or within axon extension and motor neuron axon guidance. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Is expressed in several structures, including cardiovascular system; digestive system; head; muscle; and spleen. Used to study Ullrich congenital muscular dystrophy. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); chronic kidney disease; dystonia 27; muscular dystrophy (multiple); and primary open angle glaucoma. Orthologous to human COL6A3 (collagen type VI alpha 3 chain). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See col6a3 in Genome Data Viewer
    Location:
    chromosome: 9
    Exon count:
    97
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 9 NC_007120.7 (23914313..23994249, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 9 NC_007120.6 (24103446..24165428, complement)

    Chromosome 9 - NC_007120.7Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and SOCS box containing 18 Neighboring gene COP9 signalosome subunit 8 Neighboring gene tripartite motif containing 63b Neighboring gene melanophilin b Neighboring gene prolactin releasing hormone Neighboring gene ribulose-5-phosphate-3-epimerase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Zebrafish models of collagen VI-related myopathies. Telfer WR, et al. Hum Mol Genet, 2010 Jun 15. PMID 20338942, Free PMC Article
    2. Two novel COLVI long chains in zebrafish that are essential for muscle development. Ramanoudjame L, et al. Hum Mol Genet, 2015 Dec 1. PMID 26362255
    3. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Zech M, et al. Am J Hum Genet, 2015 Jun 4. PMID 26004199, Free PMC Article
    4. Collagen VI ablation in zebrafish causes neuromuscular defects during developmental and adult stages. Tonelotto V, et al. Matrix Biol, 2022 Sep. PMID 35961424
    5. Spatio-temporal expression and distribution of collagen VI during zebrafish development. Tonelotto V, et al. Sci Rep, 2019 Dec 27. PMID 31882701, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within axon extension IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within motor neuron axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    collagen alpha-3(VI) chain
    Names
    alpha 3 type VI collagen-like

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007120.7 Reference GRCz11 Primary Assembly

      Range
      23914313..23994249 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021478915.2 → XP_021334590.2  collagen alpha-3(VI) chain isoform X5

      UniProtKB/TrEMBL
      A0A8M6Z0G5

    2. XM_021478918.2 → XP_021334593.2  collagen alpha-3(VI) chain isoform X4

      UniProtKB/TrEMBL
      A0A8M9Q514

    3. XM_068223624.1 → XP_068079725.1  collagen alpha-3(VI) chain isoform X2

      UniProtKB/TrEMBL
      A0A8M9QFY4

    4. XM_068223625.1 → XP_068079726.1  collagen alpha-3(VI) chain isoform X3

      UniProtKB/TrEMBL
      A0A8M6Z141

    5. XM_068223623.1 → XP_068079724.1  collagen alpha-3(VI) chain isoform X1

      UniProtKB/TrEMBL
      A0A8M6Z0G5

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394753.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      33473..113409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017357806.3 → XP_017213295.2  collagen alpha-3(VI) chain isoform X5

      UniProtKB/TrEMBL
      A0A8M6Z0G5

    2. XM_017357809.3 → XP_017213298.2  collagen alpha-3(VI) chain isoform X4

      UniProtKB/TrEMBL
      A0A8M9Q514

    3. XM_068218546.1 → XP_068074647.1  collagen alpha-3(VI) chain isoform X2

      UniProtKB/TrEMBL
      A0A8M9QFY4

    4. XM_068218547.1 → XP_068074648.1  collagen alpha-3(VI) chain isoform X3

      UniProtKB/TrEMBL
      A0A8M6Z141

    5. XM_068218545.1 → XP_068074646.1  collagen alpha-3(VI) chain isoform X1

      UniProtKB/TrEMBL
      A0A8M6Z0G5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_023329.1: Suppressed sequence

      Description
      NR_023329.1: This RefSeq was suppressed because this is a protein-coding locus.
    Nucleotide Protein Strain
    Heading Accession and Version

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