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Col17a1
Gene Detail
Symbol

Name
ID
Col17a1
collagen, type XVII, alpha 1
MGI:88450
Synonyms
BP180, Bpag, Bpag2, BPAg2
Feature Type
protein coding gene
Genetic Map
Chromosome 19
40.07 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr19:47646344-47692094 bp, - strand
From VEGA annotation of GRCm38

  45751 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7276  Vertebrate Homology Class
1 mouse; 1 rat; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Col17a1

Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Gene trapped(1) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Col17a1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Col17a1 interacts with 212 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Component basement membrane, cell junction, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (118)    Tissues (51)    Images (26)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RNA in situ 116
cDNA source data(33)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(35) Genomic(1) cDNA(34)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021388 (Evidence)
Ensembl Gene ModelENSMUSG00000025064 (Evidence)
Entrez Gene12821 (Evidence)
UniGene1225
DFCITC1582740, TC1632089
DoTSDT.530974, DT.91446997
NIA Mouse Gene IndexU039137
Consensus CDS ProjectCCDS38018.1, CCDS70959.1
International Mouse Knockout Project StatusCol17a1
Sequences
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 sequences
All sequences(40) RefSeq(10) UniProt(1)
Polymorphisms
RFLP(2) : SNPs within 2kb(399 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
Protein Ontology PR:000005701 collagen alpha-1(XVII) chain
References
(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:184433 Lin L, et al., Neutrophil elastase cleaves the murine hemidesmosomal protein BP180/type XVII collagen and generates degradation products that modulate experimental bullous pemphigoid. Matrix Biol. 2012 Jan;31(1):38-44
All references(52)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1612, MGD-MRK-1614, MGD-MRK-2057

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
11/18/2014
MGI 5.20
The Jackson Laboratory