U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 556874, updated on 27-Mar-2024

    Summary

    Go to the top of the page Help
    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. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in head. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy; dystonia 27; and muscular dystrophy. Orthologous to human COL6A3 (collagen type VI alpha 3 chain). [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    chromosome: 9
    Exon count:
    87
    Annotation release Status Assembly Chr Location
    106 current GRCz11 (GCF_000002035.6) 9 NC_007120.7 (23914313..23976288, 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 collagen alpha-3(VI) chain-like Neighboring gene melanophilin b

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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. 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
    5. Comprehensive Mapping and Dynamics of Site-Specific Prolyl-Hydroxylation, Lysyl-Hydroxylation and Lysyl O-Glycosylation of Collagens Deposited in ECM During Zebrafish Heart Regeneration. Sarohi V, et al. Front Mol Biosci, 2022. PMID 35782869, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

    Go to the top of the page Help

    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 cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

    Go to the top of the page Help
    Preferred Names
    collagen alpha-3(VI) chain; uncharacterized protein col6a3
    Names
    alpha 3 type VI collagen-like

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...Open this link in a new tab

    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..23976288 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021478918.1 → XP_021334593.1  uncharacterized protein col6a3 isoform X4

      UniProtKB/TrEMBL
      A0A8M9Q514
      Conserved Domains (4) summary
      pfam01391
      Location:9853 → 9919
      Collagen; Collagen triple helix repeat (20 copies)
      cd00109
      Location:10829 → 10882
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      pfam00092
      Location:9380 → 9551
      VWA; von Willebrand factor type A domain
      cl00057
      Location:8977 → 9140
      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 ...

    2. XM_021478916.1 → XP_021334591.1  uncharacterized protein col6a3 isoform X2

      UniProtKB/TrEMBL
      A0A8M9QFY4
      Conserved Domains (5) summary
      pfam01391
      Location:9853 → 9919
      Collagen; Collagen triple helix repeat (20 copies)
      cd00109
      Location:10891 → 10944
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      pfam00014
      Location:10807 → 10860
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam00092
      Location:9380 → 9551
      VWA; von Willebrand factor type A domain
      cl00057
      Location:8977 → 9140
      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 ...

    3. XM_021478917.1 → XP_021334592.1  uncharacterized protein col6a3 isoform X3

      UniProtKB/TrEMBL
      A0A8M6Z141
      Conserved Domains (4) summary
      pfam01391
      Location:9853 → 9919
      Collagen; Collagen triple helix repeat (20 copies)
      cd00109
      Location:10856 → 10909
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      pfam00092
      Location:9380 → 9551
      VWA; von Willebrand factor type A domain
      cl00057
      Location:8977 → 9140
      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 ...

    4. XM_021478915.1 → XP_021334590.1  uncharacterized protein col6a3 isoform X1

      UniProtKB/TrEMBL
      A0A8M6Z0G5
      Conserved Domains (5) summary
      pfam01391
      Location:9853 → 9919
      Collagen; Collagen triple helix repeat (20 copies)
      cd00109
      Location:10918 → 10971
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      pfam00014
      Location:10834 → 10887
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam00092
      Location:9380 → 9551
      VWA; von Willebrand factor type A domain
      cl00057
      Location:8977 → 9140
      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 ...

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394753.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      33473..95448 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017357809.2 → XP_017213298.1  uncharacterized protein col6a3 isoform X4

      UniProtKB/TrEMBL
      A0A8M9Q514
      Conserved Domains (4) summary
      pfam01391
      Location:9853 → 9919
      Collagen; Collagen triple helix repeat (20 copies)
      cd00109
      Location:10829 → 10882
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      pfam00092
      Location:9380 → 9551
      VWA; von Willebrand factor type A domain
      cl00057
      Location:8977 → 9140
      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 ...

    2. XM_017357807.2 → XP_017213296.1  uncharacterized protein col6a3 isoform X2

      UniProtKB/TrEMBL
      A0A8M9QFY4
      Conserved Domains (5) summary
      pfam01391
      Location:9853 → 9919
      Collagen; Collagen triple helix repeat (20 copies)
      cd00109
      Location:10891 → 10944
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      pfam00014
      Location:10807 → 10860
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam00092
      Location:9380 → 9551
      VWA; von Willebrand factor type A domain
      cl00057
      Location:8977 → 9140
      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 ...

    3. XM_017357808.2 → XP_017213297.1  uncharacterized protein col6a3 isoform X3

      UniProtKB/TrEMBL
      A0A8M6Z141
      Conserved Domains (4) summary
      pfam01391
      Location:9853 → 9919
      Collagen; Collagen triple helix repeat (20 copies)
      cd00109
      Location:10856 → 10909
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      pfam00092
      Location:9380 → 9551
      VWA; von Willebrand factor type A domain
      cl00057
      Location:8977 → 9140
      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 ...

    4. XM_017357806.2 → XP_017213295.1  uncharacterized protein col6a3 isoform X1

      UniProtKB/TrEMBL
      A0A8M6Z0G5
      Conserved Domains (5) summary
      pfam01391
      Location:9853 → 9919
      Collagen; Collagen triple helix repeat (20 copies)
      cd00109
      Location:10918 → 10971
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      pfam00014
      Location:10834 → 10887
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam00092
      Location:9380 → 9551
      VWA; von Willebrand factor type A domain
      cl00057
      Location:8977 → 9140
      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 ...

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.