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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
  • Alliance
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: HGNC, HomoloGene
  • Synonyms
    EBD1, EBDCT, EBR1, NDNC8
  • Links
    NCBI Gene ID: 1294
    neXtProt AC: NX_Q02388
    UniProt: Q02388

  • Chr Location
    3p21.31; chr3:48564073-48595302 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Col7a1 mouse models; 3 with human COL7A1 associations

Human Disease Mouse Models
      
IDs
View 4 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 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
    22 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • 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
    less
    • SNPs within 2kb
      134 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 5
      cDNA 33

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-2079, MGI:2143296
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 9
      Diseases 3
      Gene Ontology 6
      Phenotypes 22
    • 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:260724 Nystrom A, et al., Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa. Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E705-E714

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory