U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Col6a3 collagen type VI alpha 3 chain [ Rattus norvegicus (Norway rat) ]

    Gene ID: 367313, updated on 13-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    Col6a3provided by RGD
    Official Full Name
    collagen type VI alpha 3 chainprovided by RGD
    Primary source
    RGD:1308704
    See related
    Ensembl:ENSRNOG00000019648 AllianceGenome:RGD:1308704
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Involved in response to glucose. Predicted to be located in extracellular matrix; extracellular space; and sarcolemma. Predicted to be part of collagen trimer. 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]
    Expression
    Biased expression in Uterus (RPKM 934.7), Lung (RPKM 607.4) and 7 other tissues See more
    Orthologs
    human mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Col6a3 in Genome Data Viewer
    Location:
    9q36
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 9 NC_086027.1 (98809171..98887060, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 9 NC_051344.1 (91361578..91439434, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 9 NC_005108.4 (97926784..98004643, complement)

    Chromosome 9 - NC_086027.1Genomic Context describing neighboring genes Neighboring gene COP9 signalosome subunit 8 Neighboring gene uncharacterized LOC134480410 Neighboring gene uncharacterized LOC134480411 Neighboring gene melanophilin Neighboring gene prolactin releasing hormone

    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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Pan TC, et al. Hum Mol Genet, 1998 May. PMID 9536084
    2. Hyperglycemic glucose concentrations up-regulate the expression of type VI collagen in vitro. Relevance to alterations of peripheral nerves in diabetes mellitus. Muona P, et al. Am J Pathol, 1993 May. PMID 8494053, Free PMC Article
    3. Deposition of collagen VI in the extracellular matrix during mouse embryogenesis correlates with expression of the alpha 3(VI) subunit gene. Dziadek M, et al. Exp Cell Res, 1996 Aug 1. PMID 8806434
    4. Developmental regulation of biglycan expression in muscle and tendon. Lechner BE, et al. Muscle Nerve, 2006 Sep. PMID 16810681
    5. A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16. Pan TC, et al. J Biol Chem, 2014 Apr 11. PMID 24563484, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within response to UV ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to glucose IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of collagen trimer ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    collagen alpha-3(VI) chain
    Names
    collagen, type VI, alpha 3
    procollagen, type VI, alpha 3

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_001427497.1 → NP_001414426.1  collagen alpha-3(VI) chain precursor

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000009
      UniProtKB/TrEMBL
      A0A8I6AHL9

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086027.1 Reference GRCr8

      Range
      98809171..98887060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063267519.1 → XP_063123589.1  collagen alpha-3(VI) chain isoform X1

    2. XM_063267520.1 → XP_063123590.1  collagen alpha-3(VI) chain isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001109008.1: Suppressed sequence

      Description
      NM_001109008.1: This RefSeq was suppressed temporarily based on the calculation that the encoded protein was shorter than proteins from the putative ortholog from chicken: COL6A3 (GeneID:396548).
    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.