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

COL6A1 Gene

protein-coding   GIFtS: 68
GCID: GC21P047401

collagen, type VI, alpha 1
 Explore 28 diseases affiliated with
COL6A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COL6A1    

Aliases
for COL6A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 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


Summaries
for COL6A1 gene

(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:
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)

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)


Genomic Views
for COL6A1 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 69), 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_018932.1  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 plasmid: COL6A1 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


Proteins
for COL6A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P12109

    • COL6A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001839.2  
    ENSEMBL proteins: 
     ENSP00000355180  
    Reactome Protein details: P12109
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for COL6A1
    Browse Proteins at Uscn

    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:0005788endoplasmic reticulum lumen TAS--
    GO:0030133transport vesicle TAS--
    GO:0031012colocalizes with extracellular matrix ISS--


    COL6A1 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for COL6A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COL6A1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR008160 Collagen
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry P12109

    ProtoNet protein and cluster: P12109

    3 Blocks protein families:
    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


    Function
    for COL6A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL6A1
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    SwitchGear 3'UTR luciferase reporter plasmid: COL6A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL6A1 (see all 4)
    OriGene shRNA RFP: COL6A1
    OriGene siRNA: COL6A1
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    Gene Editing
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    Clone
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    Cell Line
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    LifeMap BioReagents: cell lines associated with COL6A1: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
    PureStem SK11, NCr-fac & Meso-prx Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A1

    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


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

    Animal Models:
         Mouse knock-out Col6a1tm1Gmb for COL6A1
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Col6a1):
     cellular  muscle  no phenotypic analysis 

    COL6A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for COL6A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrin Pathway
    		Integrin Pathway1.00
    		UPA-UPAR Pathway0.51
    		FAK1 Signaling0.67
    		Transendothelial Migration of Leukocytes0.38
    		GnRH Signaling0.56
    		Inhibition of Angiogenesis by TSP10.37
    2Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Collagen biosynthesis and modifying enzymes0.74
    		Secretion of collagens0.49
    		Assembly of collagen fibrils and other multimeric structures0.65
    3Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    4NCAM signaling for neurite out-growth
    		NCAM signaling for neurite out-growth1.00
    		NCAM1 interactions0.62
    5Degradation of the extracellular matrix
    		Degradation of the extracellular matrix1.00
    		Degradation of collagen0.79

    Pathway sources
    See GeneCards unified pathways
    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
    Secretion of collagens
    NCAM1 interactions
    Assembly of collagen fibrils and other multimeric structures
    NCAM signaling for neurite out-growth


    3         Kegg Pathways  (Kegg details for COL6A1):
        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 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion NAS--
    GO:0007411axon guidance TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0070208protein heterotrimerization IPI18400749
    GO:0071230cellular response to amino acid stimulus IEA--


    COL6A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COL6A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    1 Novoseek 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 

    Transcripts
    for COL6A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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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    SwitchGear 3'UTR luciferase reporter plasmid: COL6A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL6A1 (see all 4)
    OriGene shRNA RFP: COL6A1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL6A1
    Clone
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    Additional cDNA 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):

    CA416995 BM707710 AL570594 AI754869 N70635 CA388939 CA446106 AA928312 
    BU732155 BM903815 AA736410 BP374060 CB216980 CF131548 BQ924339 BM994007 
    AU107902 CA421550 BM688712 W73861 AW074554 N81113 AA653207 BM555982 

    GeneLoc Exon Structure


    Expression
    for COL6A1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGCTGACTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    COL6A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/13 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 13) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    BoneMandibular CondyleBone
    CartilageLumbar Intervertebral DiscCartilage
    KidneyInterstitial StromaKidney
    OvaryAntral FollicleOvary
    OvaryCorpus LuteumOvary
    OvaryOvary InterstitiumOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    Trophoblast-like cells (Generation of tropho...)
    Definitive endoderm-like cells (A scalable, suspensi...)

    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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    In Situ
    Assay Products:     
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    Orthologs
    for COL6A1 gene

    (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 chordates.

    Orthologs for COL6A1 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 70(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 


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

    Paralogs
    for COL6A1 gene

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

    COL6A1 for paralogs           About GeneDecksing



    Genomic Variants
    for COL6A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/852 NCBI SNPs in COL6A1 are shown (see all 852)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1843804851,2
    		--47399835(+) ACTTTC/TGGAGG 1 -- us2k10--------
    rs1897325491,2
    		--47399874(+) GAGTTC/TGAGAC 1 -- us2k10--------
    rs1501094931,2
    		--47399960(+) TGATCA/CCAGCT 1 -- us2k10--------
    rs117007241,2
    		C,F,H,--47399969(+) ctactC/Tgggag 1 -- us2k15Minor allele frequency- T:0.36NA 14
    rs1812880991,2
    		--47400064(+) AGAGTA/GAGCCC 1 -- us2k10--------
    rs724095931,2
    		C,--47400075(+) CTTAG-/ATAATAAT 1 -- us2k10--------
    rs105593671,2
    		C,--47400093(+) TAATA-/AGGAGGAG 1 -- us2k10--------
    rs1143611881,2
    		F,--47400135(+) GAAGTA/GCTTTA 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs1413281231,2
    		--47400322(+) GGCAAA/GTCTCA 1 -- us2k10--------
    rs1462817141,2
    		C,--47400453(+) CTCTT-/TCTGTC
    TCTCTGTC    TCTGT     		1 -- us2k10--------

    HapMap Linkage Disequilibrium report for COL6A1 (47401651 - 47424964 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COL6A1: --
    Human Gene Mutation Database (HGMD): COL6A1

    Locus Specific Mutation Databases (LSDB): COL6A1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL6A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL6A1

    Disorders / Diseases
    for COL6A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    COL6A1 for disorders           About GeneDecksing

    OMIM gene information: 120220   
    OMIM disorders: 158810  254090  602475  
    UniProtKB/Swiss-Prot: CO6A1_HUMAN, P12109
  • Defects in COL6A1 are a cause of Bethlem myopathy (BM) [MIM:158810]. BM is a rare autosomal dominant proximal
    • myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most
    frequently affecting the elbows and ankles
  • Defects in COL6A1 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as
    • Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive 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

    20/28 diseases for COL6A1 (see all 28):    About MalaCards
    bethlem myopathy    ossification of posterior longitudinal ligament of spine    ossification of the posterior longitudinal spinal ligaments    ullrich congenital muscular dystrophy
    collagen type vi-related disorders    spinal stenosis    myopathy    diffuse idiopathic skeletal hyperostosis
    congenital muscular dystrophy    spinal cord disease    scleroatonic muscular dystrophy    muscular dystrophy
    hyperostosis    congenital heart defect    ankylosing spondylitis    intracranial aneurysm
    corneal dystrophy    was-related disorders    spondylosis    quadriplegia

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

    6 Novoseek 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
    Collagen Type VI-Related Disorders

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

    Export disorders for COL6A1 gene to outside databases

    Publications
    for COL6A1 gene

    (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 100):
    (articles sorted by number of sources associating them with COL6A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. (PubMed id 16130093)1, 2, 9 Giusti B....Pepe G. (2005)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. (PubMed id 8782832)1, 2 Joebsis G.J.... Bohlhuis P.A. (1996)
    9. Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI. (PubMed id 8168508)1, 2 Tillet E.... Timpl R. (1994)
    10. The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar. (PubMed id 1765372)1, 2 Saitta B....Chu M.-L. (1991)

    External Searches for COL6A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing COL6A1 gene

    (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

    Other Databases showing COL6A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COL6A1 gene

    (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

    Intellectual Property
    for COL6A1 gene

    (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



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    About This Section

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