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Col7a1 Gene Detail
Summary
  • Symbol
    Col7a1
  • Name
    collagen, type VII, alpha 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88462
    NCBI Gene: 12836
Location & Maps
more
  • Sequence Map
    Chr9:108953586-108984875 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      31290 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 59.63 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    COL7A1, collagen type VII alpha 1 chain
  • Vertebrate Orthologs
    9
  • Human Ortholog
    COL7A1, collagen type VII alpha 1 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EBD1, EBDCT, EBR1, NDNC8
  • Links
    NCBI Gene ID: 1294
    neXtProt AC: NX_Q02388

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

Human Diseases
more
  • Diseases
    1 with Col7a1 mouse models; 7 with human COL7A1 associations

Human Disease Mouse Models
       Epidermolysis Bullosa Dystrophica, Autosomal Recessive; RDEB   OMIM: 226600 View 4 models
       Epidermolysis Bullosa Dystrophica, Autosomal Dominant; DDEB   OMIM: 131750
Epidermolysis Bullosa Dystrophica, Pretibial   OMIM: 131850
Epidermolysis Bullosa Pruriginosa   OMIM: 604129
Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails   OMIM: 132000
Nail Disorder, Nonsyndromic Congenital, 8; NDNC8   OMIM: 607523
Transient Bullous Dermolysis of the Newborn; TBDN   OMIM: 131705
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 3 alleles in 4 genetic backgrounds
    11 phenotypes from multigenic genotypes
    6 images
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Gene trapped
    1
  • Targeted
    6
  • Transgenic
    4
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    134 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000003349 collagen alpha-1(VII) chain
  • InterPro Domains
    IPR008160 Collagen triple helix repeat
    IPR003961 Fibronectin type III
    IPR013783 Immunoglobulin-like fold
    IPR002223 Pancreatic trypsin inhibitor Kunitz domain
    IPR020901 Proteinase inhibitor I2, Kunitz, conserved site
    IPR002035 von Willebrand factor, type A
Molecular
Reagents
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  • All nucleic 37
    Genomic 5
    cDNA 32

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-2079, MGI:2143296
References
more
  • Summaries
    All 52
    Developmental Gene Expression 7
    Diseases 6
    Gene Ontology 6
    Phenotypes 18
  • 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:233535 Nystrom A, et al., Losartan ameliorates dystrophic epidermolysis bullosa and uncovers new disease mechanisms. EMBO Mol Med. 2015 Sep;7(9):1211-28

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory