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

COL7A1 Gene

protein-coding   GIFtS: 63
GCID: GC03M048576

Collagen, Type VII, Alpha 1

(Previous names: epidermolysis bullosa, dystrophic, dominant and recessive)
(Previous symbols: EBDCT, EBD1, EBR1)
  See related diseases
at  

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

Aliases
Collagen, Type VII, Alpha 11 2     Alpha-1 Polypeptide1
LC Collagen1 2 3     Collagen VII1
EBD11 2     Epidermolysis Bullosa, Dystrophic, Dominant And Recessive1
EBDCT1 2     Collagen Alpha-1(VII) Chain2
EBR11 2     Collagen VII, Alpha-1 Polypeptide2
Long-Chain Collagen2 3     

External Ids:    HGNC: 22141   Entrez Gene: 12942   Ensembl: ENSG000001142707   OMIM: 1201205   UniProtKB: Q023883   

Export aliases for COL7A1 gene to outside databases

Previous GC identifers: GC03M048391 GC03M047884 GC03M048562


(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 COL7A1 Gene:
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical
alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as
an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are
associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired
form of this disease can result from an autoimmune response made to type VII collagen. (provided by RefSeq, Jul
2008)

GeneCards Summary for COL7A1 Gene: 
COL7A1 (collagen, type VII, alpha 1) is a protein-coding gene. Diseases associated with COL7A1 include epidermolysis bullosa, and recessive dystrophic epidermolysis bullosa, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and FAK1 Signaling. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and protein binding. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388
Function: Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may
contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix
(ECM) proteins such as type IV collagen

Gene Wiki entry for COL7A1 (Collagen, type VII, 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)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL7A1 gene promoter:
         HEN1   GR   Pax-5   AP-1   ATF-2   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL7A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL7A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL7A1


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

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.1

COL7A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL7A1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M048576:  view genomic region     (about GC identifiers)

Start:
48,601,506 bp from pter      End:
48,632,700 bp from pter
Size:
31,195 bases      Orientation:
minus strand

(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: CO7A1_HUMAN, Q02388 (See protein sequence)
Recommended Name: Collagen alpha-1(VII) chain precursor  
Size: 2944 amino acids; 295220 Da
Subunit: Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent
secretion
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane
Sequence caution: Sequence=BAA02853.1; Type=Frameshift; Positions=275, 282, 476, 494, 523, 541, 543;
Secondary accessions: Q14054 Q16507
Alternative splicing: 2 isoforms:  Q02388-1   Q02388-2   

Explore the universe of human proteins at neXtProt for COL7A1: NX_Q02388

Explore proteomics data for COL7A1 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_Q02388

  • COL7A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL7A1 Protein Expression
    REFSEQ proteins: NP_000085.1  
    ENSEMBL proteins: 
     ENSP00000332371   ENSP00000391608   ENSP00000412569  
    Reactome Protein details: Q02388
    Human Recombinant Protein Products for COL7A1: 
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    Browse Sino Biological Cell Lysates 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005590collagen type VII TAS9375848
    GO:0005604basement membrane IEA--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0031012colocalizes with extracellular matrix ISS--

    COL7A1 for ontologies           About GeneDecksing



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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: 
    FN3: Fibronectin type III domain containing
    COLLAGEN: Collagens

    5/6 InterPro protein domains (see all 6):
     IPR003961 Fibronectin_type3
     IPR002223 Prot_inh_Kunz-m
     IPR013783 Ig-like_fold
     IPR020901 Prtase_inh_Kunz-CS
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry Q02388

    ProtoNet protein and cluster: Q02388

    4 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB002223 Pancreatic trypsin inhibitor (Kunitz)
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388
    Similarity: Contains 1 BPTI/Kunitz inhibitor domain
    Similarity: Contains 9 fibronectin type-III domains
    Similarity: Contains 2 VWFA domains


    COL7A1 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: CO7A1_HUMAN, Q02388
    Function: Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may
    contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix
    (ECM) proteins such as type IV collagen

         Genatlas biochemistry entry for COL7A1:
    collagen type VII,alpha 1,anchoring fibril

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
    GO:0005515protein binding IPI19269366
         
    COL7A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for COL7A1:
     Decreased Salmonella enterica  

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Col7a1):
     craniofacial  digestive/alimentary  growth/size  integument  limbs/digits/tail 
     mortality/aging  normal  skeleton 

    COL7A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col7a1tm1Uit for COL7A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL7A1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL7A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL7A1 

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    (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 COL7A1 About   (see all 7)                                                                                              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
    2Integrin 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
    3Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.79
    Degradation of collagen0.79
    5PTEN Pathway
    PTEN Pathway0.56
    Phospholipase-C Pathway0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL7A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5/7        Reactome Pathways for COL7A1 (see all 7)
        Anchoring fibril formation
    Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Degradation of the extracellular matrix


    1         Kegg Pathway  (Kegg details for COL7A1):
        Protein digestion and absorption


    COL7A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL7A1

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

    5/58 Interacting proteins for COL7A1 (Q023881, 2, 3 ENSP000003323714) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MIA3Q5JRA61, 2, 3, ENSP000003409004EBI-724237,EBI-2291868 MINT-7217948 MINT-7217938 MINT-7217905 MINT-7217969 MINT-7217990 MINT-7217980 MINT-7217958 I2D: score=2 STRING: ENSP00000340900
    ZC3H7AQ8IWR02, 3, ENSP000003479994MINT-64033 I2D: score=4 STRING: ENSP00000347999
    FBXL2Q9UKC92, 3, ENSP000004176014MINT-64035 I2D: score=2 STRING: ENSP00000417601
    HSPA8P111422, 3MINT-64032 I2D: score=4 
    SHKBP1Q8TBC32, 3, ENSP000002918424MINT-64034 I2D: score=4 STRING: ENSP00000291842
    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 IEA--
    GO:0008544epidermis development TAS8170945
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030574collagen catabolic process TAS--

    COL7A1 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

    COL7A1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for COL7A1 (CO7A1)

    5 Novoseek inferred chemical compound relationships for COL7A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 32.7 7 7861014 (1), 9182828 (1), 9412818 (1), 8037207 (1) (see all 7)
    valine 12.5 1 15115517 (1)
    serine 0 2 16119884 (1), 8170945 (1)
    cysteine 0 2 15239838 (1)
    chloramphenicol 0 2 9582342 (1), 9092567 (1)

    Search CenterWatch for drugs/clinical trials and news about COL7A1 / CO7A1

    (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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    About This Section

    REFSEQ mRNAs for COL7A1 gene: 
    NM_000094.3  

    Unigene Cluster for COL7A1:

    Collagen, type VII, alpha 1
    Hs.476218  [show with all ESTs]
    Unigene Representative Sequence: L02870
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000470076 ENST00000465238 ENST00000487017 ENST00000328333(uc003ctz.2)
    ENST00000466591 ENST00000474432 ENST00000459756 ENST00000467985 ENST00000422991
    ENST00000462475 ENST00000454817
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    Additional mRNA sequence: 

    L02870.1 L06862.1 M65158.1 M96984.1 S51236.1 

    7 DOTS entries:

    DT.413418  DT.444805  DT.120868605  DT.98084062  DT.100792890  DT.100792891  DT.95163505 

    24/154 AceView cDNA sequences (see all 154):

    AA057717 NM_134426 AA779900 BU543732 BM846802 BM703189 AF279265 BG171652 
    BF366213 BM846627 BM668143 BE348329 BM824090 AI560657 BQ951689 AF288410 
    AW779600 AB033288 BM996044 AW236215 AF416721 AW206043 CF131391 BQ681565 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for COL7A1 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50a · 50b ^ 51 ^
    SP1:                                                                                                                                            -               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 52 ^ 53 ^ 54 ^ 55a · 55b ^ 56a · 56b ^ 57a · 57b ^ 58 ^ 59 ^ 60 ^ 61a · 61b ^ 62a · 62b ^ 63a · 63b · 63c · 63d
    SP1:                                                                          -           -           -                     
    SP2:                                                                                                                        
    SP3:                                                                                                                        
    SP4:  -     -     -     -     -     -                                         -                                             
    SP5:                                            -                             -           -                                 


    ECgene alternative splicing isoforms for COL7A1

    (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

    COL7A1 expression in normal human tissues (normalized intensities)      COL7A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCTGATTC
    COL7A1 Expression
    About this image


    COL7A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Uncategorized (Uncategorized)    fully expand to see all 3 entries
             PureStem Progenitor E68
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Dermal Fibroblasts Dorsal Dermis
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
             Human Brain Vascular Pericyte (HBVP)   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Human Perineurial Cells (HPC)   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             endometrial endothelial cell   

    See COL7A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL7A1

    SOURCE GeneReport for Unigene cluster: Hs.476218
        SABiosciences Expression via Pathway-Focused PCR Array including COL7A1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL7A1

    (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 COL7A1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col7a11 , 5 collagen, type VII, alpha 11, 5 84.36(n)1
    84.75(a)1
      9 (59.63 cM)5
    128361  NM_007738.31  NP_031764.21 
     1089535865 
    chicken
    (Gallus gallus)
    Aves LOC4275841 collagen alpha-1(VII) chain-like 59.22(n)
    55.88(a)
      427584  XM_425157.3  XP_425157.3 
    lizard
    (Anolis carolinensis)
    Reptilia COL7A16
    Uncharacterized protein
    57(a)
    1 ↔ 1
    2(164488645-164641513)
    zebrafish
    (Danio rerio)
    Actinopterygii col7a11 collagen, type VII, alpha 1 53.25(n)
    50.68(a)
      100332562  XM_002662505.2  XP_002662551.2 


    ENSEMBL Gene Tree for COL7A1 (if available)
    TreeFam Gene Tree for COL7A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL7A1 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  
    COL5A22  COL5A12  COL4A32  COL1A22  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    18 SIMAP similar genes for COL7A1 using alignment to 4 protein entries:     CO7A1_HUMAN (see all proteins):
    COL1A1    COL20A1    COL4A4    COL5A2    COL6A2    MARCO
    COL3A1    COL6A1    COL11A2    DKFZp434L081    FCN2    SFTPD
    COL9A2    COL16A1    COL21A1    COL8A2    COLEC11    MSR1

    COL7A1 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

    10/1451 SNPs in COL7A1 are shown (see all 1451)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0649944
    Epidermolysis bullosa dystrophica, autosomal recessive (RDEB)4--see VAR_0649942 G R mis40--------
    VAR_0111634
    Epidermolysis bullosa dystrophica, autosomal recessive (RDEB)4--see VAR_0111632 G R mis40--------
    VAR_0111604
    Epidermolysis bullosa dystrophica, autosomal recessive (RDEB)4--see VAR_0111602 G R mis40--------
    VAR_0111674
    Epidermolysis bullosa dystrophica, autosomal dominant (DDEB)4--see VAR_0111672 G R mis40--------
    VAR_0111724
    Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)4--see VAR_0111722 R C mis40--------
    VAR_0112004
    Epidermolysis bullosa dystrophica, autosomal recessive (RDEB)4--see VAR_0112002 G S mis40--------
    VAR_0018374
    Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)4--see VAR_0018372 M K mis40--------
    VAR_0018234
    Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)4--see VAR_0018232 R W mis40--------
    VAR_0111944
    Epidermolysis bullosa dystrophica, autosomal recessive (RDEB)4--see VAR_0111942 G S mis40--------
    VAR_0111994
    Epidermolysis bullosa dystrophica, autosomal recessive (RDEB)4--see VAR_0111992 G A mis40--------

    HapMap Linkage Disequilibrium report for COL7A1 (48601506 - 48632700 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for COL7A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv876762CNV Loss21882294
    nsv834685CNV Loss17160897
    nsv3811CNV Loss18451855
    nsv523981CNV Loss19592680
    nsv818138CNV Gain17921354


    Human Gene Mutation Database (HGMD): COL7A1

    Locus Specific Mutation Databases (LSDB): COL7A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COL7A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL7A1

    (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: 120120   
    OMIM disorders: 131750  226600  131850  132000  131705  604129  607523  
    UniProtKB/Swiss-Prot: CO7A1_HUMAN, Q02388
  • Note=Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease resulting
    from autoantibodies to type VII collagen
  • Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]: A group of autosomal dominant
    blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement
    membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized,
    ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent
    extracutaneous manifestations. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]: A group of autosomal
    recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal
    basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are
    recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less
    frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa
    localisata. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Epidermolysis bullosa dystrophica, Pasini type (P-DEB) [MIM:131750]: A severe, dominantly inherited form
    of dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering,
    milia formation and red atrophic scarring after recurrent blisters. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) [MIM:226600]: The most severe
    recessive form of dystrophic epidermolysis bullosa. It manifests with mutilating scarring, joint contractures,
    corneal erosions, esophagus structures, and propensity to formation of cutaneous squamous cell carcinomas leading
    to premature demise of the affected individuals. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]: TBDN is a neonatal form of dystrophic
    epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the
    dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly
    improves within the first months and years of life. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Epidermolysis bullosa dystrophica, pretibial type (PR-DEB) [MIM:131850]: A form of dystrophic
    epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions.
    It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical
    features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial
    predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Epidermolysis bullosa dystrophica, Bart type (B-DEB) [MIM:132000]: An autosomal dominant form of
    dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and
    deformity of nails. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]: A distinct clinical subtype of epidermolysis
    bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and
    excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third
    decade of life. Inheritance can be autosomal dominant or recessive. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Nail disorder, non-syndromic congenital, 8 (NDNC8) [MIM:607523]: A nail disorder characterized by
    isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate
    being buried in the nail bed with a deformed and narrow free edge. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC) [MIM:131750]: A bullous skin disorder
    with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters,
    milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic
    epidermolysis bullosa. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/36 diseases for COL7A1 (see all 36):    About MalaCards
    epidermolysis bullosa    recessive dystrophic epidermolysis bullosa    dominant dystrophic epidermolysis bullosa    epidermolysis bullosa pruriginosa
    epidermolysis bullosa dystrophica    transient bullous dermolysis of the newborn    epidermolysis bullosa simplex superficialis    epidermolysis bullosa, pretibial
    ebd inversa    centripetalis recessive dystrophic epidermolysis bullosa    recessive dystrophic epidermolysis bullosa, generalized, other    toenail dystrophy, isolated
    epidermolysis bullosa dystrophica, ad    epidermolysis bullosa dystrophica, ar    ebd, bart type    acral dystrophic epidermolysis bullosa
    severe generalized recessive dystrophic epidermolysis bullosa    transient bullous of the newborn    dystrophic epidermolysis bullosa, nails only    kindler syndrome

    3 diseases from the University of Copenhagen DISEASES database for COL7A1:
    Epidermolysis bullosa     Bullous pemphigoid     Cicatricial pemphigoid

    COL7A1 for disorders           About GeneDecksing

    10/15 Novoseek inferred disease relationships for COL7A1 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epidermolysis bullosa dystrophic 99 173 9042157 (4), 7861014 (3), 9804332 (3), 8757758 (3) (see all 99)
    epidermolysis bullosa pruriginosa 96.4 9 10383749 (2), 11218887 (1), 15115517 (1), 18067480 (1) (see all 7)
    epidermolysis bullosa 91.8 13 8325648 (1), 7706758 (1), 18955559 (1), 10523500 (1) (see all 11)
    ddeb dominant dystrophic epidermolysis bullosa 91.4 4 9718359 (1), 19486058 (1), 15113589 (1), 19726672 (1)
    epidermolysis bullosa, pretibial 87.6 1 8541842 (1)
    nail dystrophy 78.9 4 11781296 (1), 15113589 (1), 16189623 (1), 11260188 (1)
    skin diseases 70.7 13 10408773 (1), 10504458 (1), 10206718 (1), 16470588 (1) (see all 13)
    kindler syndrome 62.8 1 11862187 (1)
    molecular pathology 57.6 6 19197535 (1), 10383749 (1), 9242516 (1), 17434045 (1) (see all 5)
    epidermolysis bullosa junctional 46.5 2 10469327 (2)

    GeneTests: COL7A1
    GeneReviews: COL7A1
    Genetic Association Database (GAD): COL7A1
    Human Genome Epidemiology (HuGE) Navigator: COL7A1 (7 documents)

    Export disorders for COL7A1 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 COL7A1 gene, integrated from 9 sources (see all 226):
    (articles sorted by number of sources associating them with COL7A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. (PubMed id 1871109)1, 2, 3 Parente M.G.... Uitto J. (1991)
    2. Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. (PubMed id 8088784)1, 2, 9 Christiano A.M.... Greenspan D.S. (1994)
    3. Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. (PubMed id 9215684)1, 2, 9 Winberg J.-O.... Bruckner-Tuderman L. (1997)
    4. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. (PubMed id 9326325)1, 2, 9 Hovnanian A....de Prost Y. (1997)
    5. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. (PubMed id 8757758)1, 2, 9 Dunnill M.G.S.... Eady R.A.J. (1996)
    6. Forty-two novel COL7A1 mutations and the role of a fr equent single nucleotide polymorphism in the MMP1 promoter in modulation of dis ease severity in a large European dystrophic epidermolysis bullosa cohort. (PubMed id 19681861)1, 4, 9 Kern J.S....Has C. (2009)
    7. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. (PubMed id 15888141)1, 4, 9 Csikos M....Bruckner-Tuderman L. (2005)
    8. A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. (PubMed id 10836608)1, 2, 9 Lee J.Y.-Y.... Uitto J. (2000)
    9. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. (PubMed id 10383749)1, 2, 9 Mellerio J.E.... McGrath J.A. (1999)
    10. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. (PubMed id 10504458)1, 2, 9 Whittock N.V.... McGrath J.A. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 1294 HGNC: 2214 AceView: COL7A1.1 Ensembl:ENSG00000114270 euGenes: HUgn1294
    ECgene: COL7A1 Kegg: 1294 H-InvDB: COL7A1

    (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 COL7A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL7A1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL7A1 gene:
    Search GeneIP for patents involving COL7A1

    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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