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    COL6A3 collagen, type VI, alpha 3 [ Homo sapiens ]

    Gene ID: 1293, updated on 19-May-2012
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    Summary

    Official Symbol
    COL6A3provided by HGNC
    Official Full Name
    collagen, type VI, alpha 3provided by HGNC
    Primary source
    HGNC:2213
    See related
    Ensembl:ENSG00000163359; HPRD:00371; MIM:120250; Vega:OTTHUMG00000150020
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLJ34702; FLJ98399; DKFZp686N0262; DKFZp686D23123; DKFZp686K04147
    Summary
    This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
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    Genomic context

    Location :
    2q37
    Sequence :
    Chromosome: 2; NC_000002.11 (238232655..238322850, complement)
    See COL6A3 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC93463 Neighboring gene COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) Neighboring gene melanophilin Neighboring gene prolactin releasing hormone

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. Yoshida T, et al. Int J Mol Med, 2010 Apr. PMID 20198315.
    3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. Oguri M, et al. Am J Hypertens, 2010 Jan. PMID 19851296.
    4. Adipose tissue collagen VI in obesity. Pasarica M, et al. J Clin Endocrinol Metab, 2009 Dec. PMID 19837927.
    5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. Wheeler HE, et al. PLoS Genet, 2009 Oct. PMID 19834535.

    See all (35) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. in humans increased COL6A3 mRNA is associated with adipose tissue macrophage chemotaxis and inflammation and that weight gain
      Title: Adipose tissue collagen VI in obesity.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    4. Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3.
      Title: Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
    5. Col6A3 fusion with colony-stimulating factor-1 gene is associated with tenosynovial giant cell tumors.
      Title: Molecular identification of COL6A3-CSF1 fusion transcripts in tenosynovial giant cell tumors.
    6. Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded
      Title: Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
    7. dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD).
      Title: Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
    8. Postranslational processing of type VI collagen in articular cartilage was investigated: alpha3(VI) collagen C5 domain is initially incorporated into the newly formed type VI fibrils, but after secretion is cut and not in the mature pericellular matrix
      Title: The C5 domain of Col6A3 is cleaved off from the Col6 fibrils immediately after secretion.
    9. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
      Title: Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
    10. the alpha3(VI) C5 domain is present in the extracellular matrix of SaOS-2 N6-C5 expressing cells and fibroblasts, which demonstrates that processing of the C-terminal region of the alpha3(VI) chain is not essential for microfibril formation
      Title: The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells.
    Submit: New GeneRIF Correction See all (12)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Bethlem myopathy

    Ullrich congenital muscular dystrophy

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P12111 P08253 MMP2    HPRD  PubMed  
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    peptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    axon guidance TAS
    Traceable Author Statement
    more info
    		  
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    collagen IEA
    Inferred from Electronic Annotation
    more info
    		  
    collagen type VI TAS
    Traceable Author Statement
    more info
    		 PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		  
    colocalizes_with extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IDA
    Inferred from Direct Assay
    more info
    		  
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    collagen alpha-3(VI) chain
    Names
    collagen alpha-3(VI) chain
    collagen VI, alpha-3 polypeptide
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    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_008676.1 RefSeqGene

      Range
      5001..95196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004369.3 → NP_004360.2  collagen alpha-3(VI) chain isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the full-length isoform (1).
      Source sequence(s)
      AK092021, AK308451, BC033174, BU687672, BX647500, DC411101, X52022
      Consensus CDS
      CCDS33412.1
      UniProtKB/TrEMBL
      D9ZGF2
      UniProtKB/Swiss-Prot
      P12111
      UniProtKB/TrEMBL
      Q63HQ4
      UniProtKB/TrEMBL
      Q8N4Z1
      Related
      ENSP00000295550, OTTHUMP00000195994, ENST00000295550, OTTHUMT00000315790
      Conserved Domains (6) summary
      cd00109
      Location:3110 – 3162
      Blast Score: 247
      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.
      cd01450
      Location:2401 – 2543
      Blast Score: 212
      vWFA_subfamily_ECM; 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 ...
      cd01481
      Location:1435 – 1599
      Blast Score: 661
      vWA_collagen_alpha3-VI-like; VWA_collagen alpha 3(VI) like: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      pfam01391
      Location:2316 – 2371
      Blast Score: 187
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:1028 – 1191
      Blast Score: 546
      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 ...
      cl00065
      Location:2993 – 3061
      Blast Score: 98
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    2. NM_057164.4 → NP_476505.3  collagen alpha-3(VI) chain isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, lacks several exons in the 3' coding region, but contains an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK092021, BX647500, DC411101
      Consensus CDS
      CCDS54439.1
      UniProtKB/TrEMBL
      Q63HQ4
      Related
      ENSP00000375860, OTTHUMP00000195996, ENST00000392003, OTTHUMT00000315792
      Conserved Domains (2) summary
      cd01481
      Location:37 – 201
      Blast Score: 626
      vWA_collagen_alpha3-VI-like; VWA_collagen alpha 3(VI) like: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      cl00057
      Location:231 – 395
      Blast Score: 536
      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. NM_057165.4 → NP_476506.3  collagen alpha-3(VI) chain isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, lacks several exons in the 3' coding region, but contains an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK304870, BX647500, DC411101
      Consensus CDS
      CCDS33411.2
      UniProtKB/TrEMBL
      B4E3U5
      UniProtKB/TrEMBL
      E9PGQ9
      UniProtKB/TrEMBL
      Q63HQ4
      Related
      ENSP00000375861, OTTHUMP00000195995, ENST00000392004, OTTHUMT00000315791
      Conserved Domains (2) summary
      cd01481
      Location:238 – 402
      Blast Score: 624
      vWA_collagen_alpha3-VI-like; VWA_collagen alpha 3(VI) like: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      cl00057
      Location:432 – 596
      Blast Score: 534
      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. NM_057166.4 → NP_476507.3  collagen alpha-3(VI) chain isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks three alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (4) that is shorter than isoform 1.
      Source sequence(s)
      BC144595, BC171790, BU687672, DC411101
      Consensus CDS
      CCDS33410.2
      UniProtKB/TrEMBL
      B7ZMJ7
      UniProtKB/TrEMBL
      B7ZW00
      UniProtKB/TrEMBL
      E9PFQ6
      Related
      ENSP00000418285, OTTHUMP00000213923, ENST00000472056, OTTHUMT00000353032
      Conserved Domains (6) summary
      cd00109
      Location:2503 – 2555
      Blast Score: 245
      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.
      cd01450
      Location:1794 – 1936
      Blast Score: 214
      vWFA_subfamily_ECM; 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 ...
      cd01481
      Location:828 – 992
      Blast Score: 662
      vWA_collagen_alpha3-VI-like; VWA_collagen alpha 3(VI) like: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      pfam01391
      Location:1709 – 1764
      Blast Score: 183
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:229 – 392
      Blast Score: 480
      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 ...
      cl00065
      Location:2386 – 2454
      Blast Score: 98
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    5. NM_057167.3 → NP_476508.2  collagen alpha-3(VI) chain isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (5) that is shorter than isoform 1.
      Source sequence(s)
      AK092021, AK308451, BC033174, BU687672, BX647500, DC411101, X52022
      Consensus CDS
      CCDS33409.1
      UniProtKB/Swiss-Prot
      P12111
      UniProtKB/TrEMBL
      Q63HQ4
      UniProtKB/TrEMBL
      Q8N4Z1
      Related
      ENSP00000315873, ENST00000353578
      Conserved Domains (6) summary
      cd00109
      Location:2904 – 2956
      Blast Score: 247
      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.
      cd01450
      Location:2195 – 2337
      Blast Score: 212
      vWFA_subfamily_ECM; 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 ...
      cd01481
      Location:1229 – 1393
      Blast Score: 660
      vWA_collagen_alpha3-VI-like; VWA_collagen alpha 3(VI) like: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      pfam01391
      Location:2110 – 2165
      Blast Score: 186
      Collagen; Collagen triple helix repeat (20 copies)
      cl00057
      Location:432 – 596
      Blast Score: 546
      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 ...
      cl00065
      Location:2787 – 2855
      Blast Score: 98
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      238232655..238322850, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      230024688..230114910, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC112715.4 AAY14906.1
    genomic AC112721.3 AAY24135.1
    genomic CH471063.1 EAW71103.1
      EAW71104.1
      EAW71105.1
      EAW71106.1
      EAW71107.1
      EAW71108.1
      EAW71109.1
      EAW71110.1
    genomic HM015590.1 ADL14511.1
    mRNA AB209636.1 BAD92873.1
    mRNA AK092021.1 BAG52467.1
    mRNA AK303290.1 BAG64366.1
    mRNA AK304870.1 BAG65607.1
    mRNA AK308451.1 None
    mRNA AL698472.1 None
    mRNA AL706147.1 None
    mRNA AL710464.1 None
    mRNA BC033174.1 AAH33174.1
    mRNA BC144595.1 AAI44596.1
    mRNA BC150625.1 AAI50626.1
    mRNA BC171790.1 AAI71790.1
    mRNA BQ446249.1 None
    mRNA BU687672.1 None
    mRNA BX641155.1 CAE46068.1
    mRNA BX647361.1 None
    mRNA BX647500.1 CAH56139.1
    mRNA CN281809.1 None
    mRNA DC411101.1 None
    mRNA M20778.1 None
    mRNA M27449.1 AAA52057.1
    mRNA S49432.1 AAB24261.1
    mRNA X06196.1 CAA29557.1
    mRNA X52022.1 CAA36267.1
    other-genetic BC172233.1 AAI72233.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12111.5 GenPept UniProtKB/Swiss-Prot:P12111
    Q59F25 GenPept UniProtKB/TrEMBL:Q59F25
    Q63HQ4 GenPept UniProtKB/TrEMBL:Q63HQ4
    Q6MZG6 GenPept UniProtKB/TrEMBL:Q6MZG6
    Q8N4Z1 GenPept UniProtKB/TrEMBL:Q8N4Z1
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

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

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