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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
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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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