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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COL6A1 Gene

protein-coding   GIFtS: 69
GCID: GC21P047401

Collagen, Type VI, Alpha 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Collagen, Type VI, Alpha 11 2
OPLL2 5
Human MRNA For Collagen VI Alpha-1 C-Terminal Globular Domain11
Alpha 1 (VI) Chain (61 AA)2
Collagen Alpha-1(VI) Chain2
Collagen VI, Alpha-1 Polypeptide2

External Ids:    HGNC: 22111   Entrez Gene: 12912   Ensembl: ENSG000001421567   OMIM: 1202205   UniProtKB: P121093   

Export aliases for COL6A1 gene to outside databases

Previous GC identifers: GC21P043908 GC21P046259 GC21P046260 GC21P046261 GC21P046226 GC21P032782


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COL6A1 Gene:
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues.
Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element.
Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a
heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are
encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of
type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the
autosomal dominant disorder, Bethlem myopathy. (provided by RefSeq, Jul 2008)

GeneCards Summary for COL6A1 Gene: 
COL6A1 (collagen, type VI, alpha 1) is a protein-coding gene. Diseases associated with COL6A1 include collagen type vi-related disorders, and diffuse idiopathic skeletal hyperostosis, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and ECM-receptor interaction. GO annotations related to this gene include platelet-derived growth factor binding. An important paralog of this gene is COL28A1.

UniProtKB/Swiss-Prot: CO6A1_HUMAN, P12109
Function: Collagen VI acts as a cell-binding protein

Gene Wiki entry for COL6A1 (Collagen, type VI, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL6A1 gene promoter:
         Max1   AML1a   AP-1   ATF-2   RelA   NF-kappaB   c-Jun   NF-kappaB1   c-Myc   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL6A1 promoter sequence

   Search SABiosciences Chromatin IP Primers for COL6A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL6A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
COL6A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL6A1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P047401:   GeneLoc Nature:405,311-319
Start:
47,401,651 bp from pter       32,926,714 bp from centromere
End:
47,424,964 bp from pter 32,931,431 bp from centromere
Size:
23,314 bases 4,718 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: X15880
genomic clones: f94F12


(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CO6A1_HUMAN, P12109 (See protein sequence)
Recommended Name: Collagen alpha-1(VI) chain precursor  
Size: 1028 amino acids; 108529 Da
Subunit: Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or
alpha-6(VI)
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions: O00117 O00118 Q14040 Q14041 Q16258 Q7Z645 Q9BSA8

Explore the universe of human proteins at neXtProt for COL6A1: NX_P12109

Explore proteomics data for COL6A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12109

  • COL6A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL6A1 Protein Expression
    REFSEQ proteins: NP_001839.2  
    ENSEMBL proteins: 
     ENSP00000355180  
    Reactome Protein details: P12109
    Human Recombinant Protein Products for COL6A1: 
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    Novus Biologicals COL6A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for COL6A1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005589collagen type VI NAS2551668
    GO:0005765lysosomal membrane IDA17897319
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0031012colocalizes with extracellular matrix ISS--

    COL6A1 for ontologies           About GeneDecksing



    COL6A1 Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    COLLAGEN: Collagens

    2 InterPro protein domains:
     IPR008160 Collagen
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry P12109

    ProtoNet protein and cluster: P12109

    3 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO6A1_HUMAN, P12109
    Similarity: Belongs to the type VI collagen family
    Similarity: Contains 3 VWFA domains


    COL6A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO6A1_HUMAN, P12109
    Function: Collagen VI acts as a cell-binding protein

         Genatlas biochemistry entry for COL6A1:
    collagen type VI,alpha 1 (150kDa),microfibrillar

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0048407platelet-derived growth factor binding IDA8900172
         
    COL6A1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COL6A1:
     Elongated cells with protrusio  Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Col6a1):
     cellular  muscle  no phenotypic analysis 

    COL6A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col6a1tm1Gmb for COL6A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL6A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL6A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL6A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL6A1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCOL6A1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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                         Customized lentivirus expression plasmids for stable overexpression of COL6A1 

    Cell Line
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    PureStem SK11, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COL6A1 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Intrinsic Prothrombin Activation Pathway0.40
    Collagen formation0.74
    Extracellular matrix organization0.39
    Assembly of collagen fibrils and other multimeric structures0.65
    Blood Coagulation Cascade0.39
    2Non-integrin membrane-ECM interactions
    ECM-receptor interaction0.42
    ECM proteoglycans0.38
    3Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    4Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.79
    Degradation of collagen0.79

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL6A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5/13        Reactome Pathways for COL6A1 (see all 13)
        Developmental Biology
    NCAM1 interactions
    Assembly of collagen fibrils and other multimeric structures
    NCAM signaling for neurite out-growth
    Collagen formation


    4         Kegg Pathways  (Kegg details for COL6A1):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption


    COL6A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL6A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/75 Interacting proteins for COL6A1 (P121092, 3 ENSP000003551804) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJB11Q9UBS42, 3, ENSP000002650284MINT-8254188 I2D: score=2 STRING: ENSP00000265028
    LGALS3BPQ083803, ENSP000002627764I2D: score=2 STRING: ENSP00000262776
    COL6A3P121113, ENSP000002955504I2D: score=1 STRING: ENSP00000295550
    DCNP075853, ENSP000000527544I2D: score=1 STRING: ENSP00000052754
    LAMB1P079423, ENSP000002223994I2D: score=1 STRING: ENSP00000222399
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion NAS--
    GO:0007411axon guidance TAS--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030574collagen catabolic process TAS--

    COL6A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    COL6A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL6A1 (CO6A1)

    1 Novoseek inferred chemical compound relationship for COL6A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 9.14 1 17785673 (1)

    Search CenterWatch for drugs/clinical trials and news about COL6A1 / CO6A1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COL6A1 gene: 
    NM_001848.2  

    Unigene Cluster for COL6A1:

    Collagen, type VI, alpha 1
    Hs.474053  [show with all ESTs]
    Unigene Representative Sequence: NM_001848
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361866(uc002zhu.1) ENST00000492851 ENST00000466285 ENST00000463060
    ENST00000498614(uc002zhv.1) ENST00000486023
    miRNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL6A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL6A1

    Additional mRNA sequence: 

    AK298968.1 AK299396.1 AK307989.1 BC005159.2 BC022236.1 BC032821.1 BC052575.1 M20776.1 
    M27447.1 X06194.1 X15879.1 X15880.1 

    23 DOTS entries:

    DT.119974  DT.91759556  DT.95166523  DT.92385835  DT.87017577  DT.100808150  DT.95180211  DT.95166529 
    DT.100043697  DT.100808153  DT.121136561  DT.121136591  DT.95166534  DT.100808151  DT.100808154  DT.119975 
    DT.121136541  DT.91729933  DT.91985112  DT.92442314  DT.95166533  DT.120695386  DT.121136549 

    24/700 AceView cDNA sequences (see all 700):

    BE272538 AI147226 AI754869 AI209027 N81113 BM710780 AW298402 BM985168 
    BM667292 CB216980 AI186401 BQ720494 BQ924339 BU732155 CR601881 AW085743 
    BM994007 AA639498 CN483767 BU553782 CA414899 CR622934 CA421037 AA488729 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COL6A1 expression in normal human tissues (normalized intensities)      COL6A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCTGACTT
    COL6A1 Expression
    About this image


    COL6A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/36 selected tissues (see all 36) fully expand
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Thalamus
             Septum   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             Intervertebral Disc Annulus Fibrosus Cells Lumbar Intervertebral Disc
             Juvenile neocartilage (RevaFlex)
             fetal cartilage   
     
     Fibroblast
             Human Lymphatic Fibroblasts (HLF)   
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Atrioventricular Node Cells Atrioventricular Node
             Human Cardiac Fibroblasts-adult ventrical (HCF-av)   
             heart/atrium   
     
     Ovary (Reproductive System)    fully expand to see all 4 entries
             Corpus Luteum

    See COL6A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL6A1

    SOURCE GeneReport for Unigene cluster: Hs.474053
        SABiosciences Expression via Pathway-Focused PCR Arrays including COL6A1: 
              Osteogenesis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL6A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for COL6A1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col6a11 , 5 collagen, type VI, alpha 11, 5 83.19(n)1
    90.24(a)1
      10 (39.71 cM)5
    128331  NM_009933.41  NP_034063.11 
     767087925 
    chicken
    (Gallus gallus)
    Aves COL6A11 collagen, type VI, alpha 1 70.57(n)
    70.21(a)
      396000  NM_205107.1  NP_990438.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL6A16
    Uncharacterized protein
    69(a)
    1 ↔ 1
    1(123275685-123333127)
    African clawed frog
    (Xenopus laevis)
    Amphibia col6a1-prov2 procollagen, type VI, alpha 1 74.12(n)    BC047255.1 
    zebrafish
    (Danio rerio)
    Actinopterygii col6a11 collagen, type VI, alpha 1 59.55(n)
    56.76(a)
      569755  XM_693161.4  XP_698253.2 
    worm
    (Caenorhabditis elegans)
    Secernentea cutl-236
    C18H7.16
    (see all 3)
    Protein C18H7.1
    (see all 3)
    9(a)
    16(a)
    (see all 3)
    many ↔ many
    possible ortholog
    (see all 3)
    III(5770185-5774583)
    IV(615544-620930)


    ENSEMBL Gene Tree for COL6A1 (if available)
    TreeFam Gene Tree for COL6A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL6A1 gene
    COL28A12  COLEC122  COL6A52  COLQ2  COL6A62  COL6A22  SCARA32  COL17A12  
    COL6A32  
    7 SIMAP similar genes for COL6A1 using alignment to 3 protein entries:     CO6A1_HUMAN (see all proteins):
    COL6A2    COL7A1    COL1A1    DKFZp434L081    C1QTNF9    C1QTNF9B
    COL6A3

    COL6A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1218 SNPs in COL6A1 are shown (see all 1218)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0135824
    Bethlem myopathy (BM)4--see VAR_0135822 G D mis40--------
    VAR_0582214
    Bethlem myopathy (BM)4--see VAR_0582212 G V mis40--------
    VAR_0135814
    Bethlem myopathy (BM)4--see VAR_0135812 G V mis40--------
    VAR_0582194
    Ullrich congenital muscular dystrophy (UCMD)4--see VAR_0582192 G R mis40--------
    VAR_0582164
    Bethlem myopathy (BM)4--see VAR_0582162 G R mis40--------
    VAR_0135804
    Bethlem myopathy (BM)4--see VAR_0135802 K R mis40--------
    VAR_0582174
    Ullrich congenital muscular dystrophy (UCMD)4--see VAR_0582172 G R mis40--------
    VAR_0582184
    Ullrich congenital muscular dystrophy (UCMD)4--see VAR_0582182 G R mis40--------
    VAR_0582154
    Bethlem myopathy (BM)4--see VAR_0582152 P L mis40--------
    VAR_0582144
    Bethlem myopathy (BM)4--see VAR_0582142 G D mis40--------

    HapMap Linkage Disequilibrium report for COL6A1 (47401651 - 47424964 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for COL6A1 (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723849CNV Deletion23290073
    esv2723852CNV Deletion23290073
    esv2723853CNV Deletion23290073
    esv2723851CNV Deletion23290073
    esv1409667CNV Insertion17803354
    esv1025241CNV Insertion17803354
    esv1396032CNV Insertion17803354
    nsv513579CNV Insertion21212237
    esv1561412CNV Insertion17803354
    nsv509804CNV Insertion20534489


    Human Gene Mutation Database (HGMD): COL6A1

    Locus Specific Mutation Databases (LSDB): COL6A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COL6A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL6A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 120220   
    OMIM disorders: 158810  254090  602475  
    UniProtKB/Swiss-Prot: CO6A1_HUMAN, P12109
  • Bethlem myopathy (BM) [MIM:158810]: A benign autosomal dominant proximal myopathy characterized by early
    childhood onset and joint contractures most frequently affecting the elbows and ankles. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]: UCMD is a congenital myopathy characterized by
    muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course
    is more severe than in Bethlem myopathy. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 20/35 diseases for COL6A1 (see all 35):    About MalaCards
    collagen type vi-related disorders    diffuse idiopathic skeletal hyperostosis    ossification of the posterior longitudinal spinal ligaments    bethlem myopathy
    ullrich congenital muscular dystrophy    adult spinal muscular atrophy    scleroatonic muscular dystrophy    spondylosis
    ossification of the posterior longitudinal ligament of the spine    spinal cord disease    radiculopathy    spinal stenosis
    hyperostosis    muscle disorders    was-related disorders    congenital heart defect
    congenital muscular dystrophy    myopathy    spinal muscular atrophy    quadriplegia

    9 diseases from the University of Copenhagen DISEASES database for COL6A1:
    Spinal cord disease     Spondylosis     Diffuse idiopathic skeletal hyperostosis     Radiculopathy
    Spinal stenosis     Muscular dystrophy     Adult spinal muscular atrophy     Quadriplegia
    Hyperostosis

    COL6A1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for COL6A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bethlem myopathy 97.8 20 11932968 (2), 15563506 (2), 15955946 (2), 12401455 (1) (see all 16)
    ullrich congenital muscular dystrophy 97.6 15 16130093 (3), 16447767 (1), 18761340 (1), 17537636 (1) (see all 10)
    contracture 71.8 2 11865138 (1), 8817344 (1)
    myopathy 63.7 2 18761340 (1), 8817344 (1)
    down syndrome 61.3 18 7909528 (3), 9491853 (3), 8094066 (2), 17334655 (2) (see all 8)
    heart defects congenital 31.8 7 8094066 (2), 7909528 (2), 7486833 (2)

    GeneTests: COL6A1
    GeneReviews: COL6A1
    Genetic Association Database (GAD): COL6A1
    Human Genome Epidemiology (HuGE) Navigator: COL6A1 (5 documents)

    Export disorders for COL6A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COL6A1 gene, integrated from 9 sources (see all 105):
    (articles sorted by number of sources associating them with COL6A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. COL6A1 polymorphisms associated with ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament. (PubMed id 18246005)1, 4, 9 Kong Q....Chen Z. (2007)
    2. COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. (PubMed id 16227896)1, 4, 9 Tsukahara S....Inoue I. (2005)
    3. Single nucleotide polymorphism of COL6A1 in patients with ankylosing spondylitis. (PubMed id 18634150)1, 4, 9 Kim T.H....Jun J.B. (2008)
    4. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. (PubMed id 16130093)1, 2, 9 Giusti B....Pepe G. (2005)
    5. Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2. (PubMed id 9107679)1, 2, 9 Trikka D.... Kessling A.M. (1997)
    6. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. (PubMed id 12840783)1, 4, 9 Pan T.C....Chu M.L. (2003)
    7. Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. (PubMed id 12958705)1, 4, 9 Tanaka T....Inoue I. (2003)
    8. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. (PubMed id 11865138)1, 2, 9 Scacheri P.C.... Hoffman E.P. (2002)
    9. RUNX2 polymorphisms associated with OPLL and OLF in t he Han population. (PubMed id 20721706)1, 4 Liu Y....Yuan W. (2010)
    10. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1291 HGNC: 2211 AceView: COL6A1 Ensembl:ENSG00000142156 euGenes: HUgn1291
    ECgene: COL6A1 Kegg: 1291 H-InvDB: COL6A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL6A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL6A1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL6A1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL6A1 gene:
    Search GeneIP for patents involving COL6A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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