About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:47646341-47692042 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 40.07 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    392 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_88450
 protein coding gene Chr19:47646341-47692094 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025232
 protein coding gene Chr19:47475771-47525053 (-)
A/J MGP_AJ_G0025208
 protein coding gene Chr19:45085752-45136152 (-)
AKR/J MGP_AKRJ_G0025177
 protein coding gene Chr19:46555987-46614639 (-)
BALB/cJ MGP_BALBcJ_G0025203
 protein coding gene Chr19:45153152-45199038 (-)
C3H/HeJ MGP_C3HHeJ_G0024963
 protein coding gene Chr19:46746112-46792392 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025646
 protein coding gene Chr19:48597052-48644998 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023059
 protein coding gene Chr19:44319697-44364534 (-)
CAST/EiJ MGP_CASTEiJ_G0024428
 protein coding gene Chr19:46569991-46619231 (-)
CBA/J MGP_CBAJ_G0024943
 protein coding gene Chr19:51060764-51106543 (-)
DBA/2J MGP_DBA2J_G0025075
 protein coding gene Chr19:44911690-44957884 (-)
FVB/NJ MGP_FVBNJ_G0025036
 protein coding gene Chr19:44698211-44746728 (-)
LP/J MGP_LPJ_G0025161
 protein coding gene Chr19:47356071-47405688 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025067
 protein coding gene Chr19:50311950-50359925 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025704
 protein coding gene Chr19:46678152-46724815 (-)
PWK/PhJ MGP_PWKPhJ_G0024177
 protein coding gene Chr19:44873341-44921277 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023980
 protein coding gene Chr19:45344778-45395180 (-)
WSB/EiJ MGP_WSBEiJ_G0024498
 protein coding gene Chr19:46841721-46888693 (-)



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
    2 with Col17a1 mouse models; 2 with human COL17A1 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 4 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    21 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
less
  • All GO Annotations
    13
  • GO References
    4
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 population 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
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
    749
  • Tissues
    51
  • cDNA Data
    33
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12821 NCBI Gene Model | MGI Sequence Detail 45702 C57BL/6J ±  kb
    transcript NM_001290825 RefSeq | MGI Sequence Detail 5539 C57BL/6  
    polypeptide Q07563 UniProt | EBI | MGI Sequence Detail 1470 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      Genomic 2
      cDNA 34

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1612, MGD-MRK-1614, MGD-MRK-2057
    References
    more
    • Summaries
      All 70
      Developmental Gene Expression 11
      Diseases 2
      Gene Ontology 4
      Phenotypes 21
    • 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:289734 Hwang BJ, et al., The dysfunction of BP180/collagen XVII in keratinocytes promotes melanoma progression. Oncogene. 2019 Dec;38(50):7491-7503
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.     		last database update
    02/23/2021
    MGI 6.16     		The Jackson Laboratory