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Col17a1 Gene Detail
Summary
  • Symbol
    Col17a1
  • Name
    collagen, type XVII, alpha 1
  • Synonyms
    BP180, Bpag, Bpag2, BPAg2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88450
    NCBI Gene: 12821
Location & Maps
more
  • Sequence Map
    Chr19:47646344-47692094 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      45751 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 40.07 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    COL17A1, collagen type XVII alpha 1 chain
  • Vertebrate Orthologs
    5
  • Human Ortholog
    COL17A1, collagen type XVII alpha 1 chain
    Orthology source: HGNC
  • Synonyms
    BA16H23.2, BP180, BPA-2, BPAG2, ERED, LAD-1
  • Links
    NCBI Gene ID: 1308
    neXtProt AC: NX_Q9UMD9
    UniProt: Q9UMD9

  • Chr Location
    10q25.1; chr10:104031288-104085880 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Col17a1 mouse models; 1 with human COL17A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 2 alleles in 3 genetic backgrounds
    7 phenotypes from multigenic genotypes
    13 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
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  • All GO Annotations
    9
  • GO References
    3
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
    118
  • Tissues
    51
  • cDNA Data
    33
  • Literature Summary
    9
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021388 VEGA Gene Model | MGI Sequence Detail 45751 C57BL/6J ±  kb
transcript OTTMUST00000050702 VEGA | MGI Sequence Detail 5588 Not Applicable  
polypeptide OTTMUSP00000023734 VEGA | MGI Sequence Detail 1470 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    394 from dbSNP Build 142
  • RFLP
    2
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 35
    Genomic 1
    cDNA 34

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1612, MGD-MRK-1614, MGD-MRK-2057
References
more
  • Summaries
    All 56
    Developmental Gene Expression 9
    Diseases 1
    Gene Ontology 3
    Phenotypes 13
  • Earliest
    J:7398 Harbers K, et al., Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice. Proc Natl Acad Sci U S A. 1984 Mar;81(5):1504-8
  • Latest
    J:242196 Xu M, et al., WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. Nat Commun. 2017 Jun 07;8:15397
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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Send questions and comments to User Support. 		last database update
09/12/2017
MGI 6.10 		The Jackson Laboratory