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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(3) : Gene trapped(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Col17a1 (1)    Mutations 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase col17a1 ; ZFIN col17a1a, col17a1b    NEW 
Molecular
reagents
All nucleic(35) Genomic(1) cDNA(34)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000021388 (Evidence)
Ensembl Gene Model ENSMUSG00000025064 (Evidence)
Entrez Gene 12821 (Evidence)
UniGene 1225
DFCI TC1582740, TC1632089
DoTS DT.530974, DT.91446997
NIA Mouse Gene Index U039137
Consensus CDS Project CCDS38018.1, CCDS70959.1
International Mouse Phenotyping Consortium Status Col17a1
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(34) RefSeq(4) 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:212966 Loffek S, et al., Transmembrane collagen XVII modulates integrin dependent keratinocyte migration via PI3K/Rac1 signaling. PLoS One. 2014;9(2):e87263
All references(53)
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
07/21/2015
MGI 5.22
The Jackson Laboratory