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 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Col7a1

Human homologs

Human Homolog		COL7A1, collagen, type VII, alpha 1
NCBI Gene ID		1294
neXtProt AC		NX_Q02388
Human Synonyms		EBD1, EBDCT, EBR1
Human Chr (Location)		3p21.1; chr3:48601506-48632593 (-)  GRCh37.p10
Disease Associations		(7) Diseases Associated with Human COL7A1

Alleles and phenotypes

All alleles(7) : Targeted(6) Gene trapped(1)
 

Mice homozygous for this targeted mutation are postnatal lethal, exhibit a severe blistering phenotype, and provide an excellent mouse model for recessive dystrophic epidermolysis bullosa.

 
Human Diseases Modeled Using Mouse Col7a1 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(6)

Gene Ontology (GO) classifications

All GO classifications: (9 annotations)

Process	cell adhesion, negative regulation of peptidase activity
Component	basement membrane, collagen, ...
Function	peptidase inhibitor activity, serine-type endopeptidase inhibitor activity

External Resources: FuncBase

Expression

Literature Summary: (7 records)
Data Summary: Results (5)    Tissues (5)    Images (3)
Theiler Stages: 17, 24, 25, 26

Assay Type	Results
Immunohistochemistry	5

cDNA source data(32)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Col7a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021336	VEGA Gene Model | MGI Sequence Detail	31290	C57BL/6J
transcript	OTTMUST00000050581	VEGA | MGI Sequence Detail	9250	Not Applicable
polypeptide	OTTMUSP00000023639	VEGA | MGI Sequence Detail	2944	Not Applicable

All sequences(35) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(2) : SNPs(108 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:190025 Umemoto H, et al., Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts. Am J Pathol. 2012 Nov;181(5):1659-71
All references(49)

Other accession IDs

MGD-MRK-2079, MGI:2143296