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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
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:108782654-108813943 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 59.63 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    759 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88462
 protein coding gene Chr9:108782654-108813943 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035318
 protein coding gene Chr9:110899024-110930326 (+)
A/J MGP_AJ_G0035297
 protein coding gene Chr9:106833431-106864707 (+)
AKR/J MGP_AKRJ_G0035229
 protein coding gene Chr9:109513341-109544661 (+)
BALB/cJ MGP_BALBcJ_G0035291
 protein coding gene Chr9:106528926-106560205 (+)
C3H/HeJ MGP_C3HHeJ_G0035001
 protein coding gene Chr9:109911528-109942803 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035811
 protein coding gene Chr9:113933492-113964807 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032709
 protein coding gene Chr9:104238268-104269869 (+)
CAST/EiJ MGP_CASTEiJ_G0034312
 protein coding gene Chr9:109879789-109916412 (+)
CBA/J MGP_CBAJ_G0034969
 protein coding gene Chr9:117945257-117976551 (+)
DBA/2J MGP_DBA2J_G0035130
 protein coding gene Chr9:106283754-106315334 (+)
FVB/NJ MGP_FVBNJ_G0035078
 protein coding gene Chr9:105103378-105134651 (+)
LP/J MGP_LPJ_G0035206
 protein coding gene Chr9:111089036-111122572 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035117
 protein coding gene Chr9:119499936-119531327 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035832
 protein coding gene Chr9:109786133-109818524 (+)
PWK/PhJ MGP_PWKPhJ_G0034019
 protein coding gene Chr9:106620131-106651554 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033854
 protein coding gene Chr9:109854663-109889091 (+)
WSB/EiJ MGP_WSBEiJ_G0034433
 protein coding gene Chr9:109683979-109715276 (+)



Homology
more
  • Human Ortholog
    COL7A1, collagen type VII alpha 1 chain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL7A1, collagen type VII alpha 1 chain
  • Synonyms
    EBD1, EBDCT, EBR1, NDNC8
  • Links
    NCBI Gene ID: 1294
    neXtProt AC: NX_Q02388
    UniProt: Q02388

  • Chr Location
    3p21.31; chr3:48564073-48595329 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Col7a1 mouse models; 6 with human COL7A1 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 4 alleles in 5 genetic backgrounds
    11 phenotypes from multigenic genotypes
    6 images
    31 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.
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
less
  • All GO Annotations
    11
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    725
  • Tissues
    16
  • cDNA Data
    33
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12836 NCBI Gene Model | MGI Sequence Detail 31290 C57BL/6J ±  kb
    transcript NM_007738 RefSeq | MGI Sequence Detail 9250 ZRU/MplStud  
    polypeptide Q63870 UniProt | EBI | MGI Sequence Detail 2944 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 39
      Genomic 5
      cDNA 33
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-2079, MGI:2143296
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 13
      Diseases 4
      Gene Ontology 7
      Phenotypes 31
    • 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:347841 Anderson-Crannage M, et al., Inflammation-mediated fibroblast activation and immune dysregulation in collagen VII-deficient skin. Front Immunol. 2023;14:1211505
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory