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    col17a1b collagen, type XVII, alpha 1b [ Danio rerio (zebrafish) ]

    Gene ID: 568794, updated on 9-Dec-2024

    Summary

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    Official Symbol
    col17a1bprovided by ZNC
    Official Full Name
    collagen, type XVII, alpha 1bprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-7145
    See related
    Ensembl:ENSDARG00000079011 AllianceGenome:ZFIN:ZDB-GENE-030131-7145
    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
    col17a1; fk89a06; wu:fk89a06; si:ch211-223p8.6
    Summary
    Acts upstream of or within lateral line system development. Predicted to be located in membrane. Predicted to be part of collagen trimer. Is expressed in heart; hypodermis; lateral line; and neuromast. Human ortholog(s) of this gene implicated in epithelial recurrent erosion dystrophy and junctional epidermolysis bullosa. Orthologous to human COL17A1 (collagen type XVII alpha 1 chain). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See col17a1b in Genome Data Viewer
    Location:
    chromosome: 13
    Exon count:
    58
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 13 NC_007124.7 (24750280..24779700)
    105 previous assembly GRCz10 (GCF_000002035.5) 13 NC_007124.6 (24619803..24649255)

    Chromosome 13 - NC_007124.7Genomic Context describing neighboring genes Neighboring gene ER lipid raft associated 1 Neighboring gene cilia and flagella associated protein 43 Neighboring gene SWI5-dependent homologous recombination repair protein 1 Neighboring gene STE20-like kinase a Neighboring gene si:ch211-223p8.8

    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 type XVII collagen: gene structures, expression profiles, and morpholino "knock-down" phenotypes. Kim SH, et al. Matrix Biol, 2010 Sep. PMID 20670682
    2. A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. Oliver VF, et al. Ophthalmology, 2016 Apr. PMID 26786512
    3. Disruption of Abcc6 Transporter in Zebrafish Causes Ocular Calcification and Cardiac Fibrosis. Sun J, et al. Int J Mol Sci, 2020 Dec 29. PMID 33383974, Free PMC Article
    4. Zebrafish: a model system to study heritable skin diseases. Li Q, et al. J Invest Dermatol, 2011 Mar. PMID 21191402, Free PMC Article
    5. Fishing for collagen function: About development, regeneration and disease. Bretaud S, et al. Semin Cell Dev Biol, 2019 May. PMID 30312775

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Process Evidence Code Pubs
    acts_upstream_of_or_within lateral line system development 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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    collagen alpha-1(XVII) chain
    Names
    col17a1a
    collagen, type XVII, alpha 1

    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_007124.7 Reference GRCz11 Primary Assembly

      Range
      24750280..24779700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_692149.10 → XP_697241.4  collagen alpha-1(XVII) chain

      UniProtKB/TrEMBL
      A0A8M2B345, A0A8N7UTE7
      Related
      ENSDARP00000121297.1, ENSDART00000134102.3
      Conserved Domains (1) summary
      pfam01391
      Location:708 → 764
      Collagen; Collagen triple helix repeat (20 copies)
    Nucleotide Protein
    Heading Accession and Version

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