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Col7a1
Gene Detail
Symbol

Name
ID
Col7a1
collagen, type VII, alpha 1
MGI:88462
Feature Type
protein coding gene
Genetic Map
Chromosome 9
59.63 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr9:108953586-108984875 bp, + strand
From VEGA annotation of GRCm38

  31290 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:73  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: COL7A1
Gene Tree: Col7a1

Human
homologs
COL7A1, collagen, type VII, alpha 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1294
neXtProt AC: NX_Q02388

Human Synonyms: EBD1, EBDCT, EBR1, NDNC8

Human Chr (Location): 3p21.1; chr3:48564073-48595302 (-)  GRCh38.p2

Disease Associations: (7) Diseases Associated with Human COL7A1

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(1) Targeted(6) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality.
 
Human Diseases Modeled in Mice Using Col7a1 (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(6)
Interactions
Col7a1 interacts with 164 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process cell adhesion, negative regulation of peptidase activity
Component basement membrane, collagen trimer, ...
Function identical protein binding, peptidase inhibitor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (5)    Tissues (5)    Images (3)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
cDNA source data(32)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN col7a1    NEW 
Molecular
reagents
All nucleic(37) Genomic(5) cDNA(32)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000021336 (Evidence)
Ensembl Gene Model ENSMUSG00000025650 (Evidence)
Entrez Gene 12836 (Evidence)
UniGene 6200
DFCI TC1597012, TC1608193
DoTS DT.101357752, DT.102555084, DT.55247936
Consensus CDS Project CCDS40770.1
International Mouse Phenotyping Consortium Status Col7a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021336 VEGA Gene Model | MGI Sequence Detail 31290 C57BL/6J ±  kb
transcript OTTMUST00000050581 VEGA | MGI Sequence Detail 9250 Not Applicable 
polypeptide OTTMUSP00000023639 VEGA | MGI Sequence Detail 2944 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(10) UniProt(2)
Polymorphisms
RFLP(2) : SNPs within 2kb(135 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR003961 Fibronectin, type III
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR020901 Proteinase inhibitor I2, Kunitz, conserved site
InterPro IPR002223 Proteinase inhibitor I2, Kunitz metazoa
InterPro IPR002035 von Willebrand factor, type A
Protein Ontology PR:000003349 collagen alpha-1(VII) chain
References
(Earliest) J:12785 Li K, et al., cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the gene. Genomics. 1993 Jun;16(3):733-9
(Latest) J:201405 Nystrom A, et al., Collagen VII plays a dual role in wound healing. J Clin Invest. 2013 Aug 1;123(8):3498-509
All references(50)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-2079, MGI:2143296

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory