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 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Col17a1

Human homologs

Human Homolog		COL17A1, collagen, type XVII, alpha 1
NCBI Gene ID		1308
neXtProt AC		NX_Q9UMD9
Human Synonyms		BA16H23.2, BP180, BPA-2, BPAG2, LAD-1
Human Chr (Location)		10q24.3; chr10:105791046-105845638 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human COL17A1

Alleles and phenotypes

All alleles(2) : Targeted(1) Gene trapped(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	hemidesmosome assembly
Component	basement membrane, cell junction, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (8 records)
Data Summary: Results (118)    Tissues (51)    Images (26)
Theiler Stages: 21, 23, 26

Assay Type	Results
Immunohistochemistry	2
RNA in situ	116

cDNA source data(33)
External Resources: Allen Institute   GEO   ArrayExpress

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
International Mouse Knockout Project Status	Col17a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021388	VEGA Gene Model | MGI Sequence Detail	45751	C57BL/6J
transcript	OTTMUST00000050702	VEGA | MGI Sequence Detail	5588	Not Applicable
polypeptide	OTTMUSP00000023734	VEGA | MGI Sequence Detail	1470	Not Applicable

All sequences(32) RefSeq(2) UniProt(1)

Polymorphisms

RFLP(2) : SNPs within 2kb(399 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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(53)

Other accession IDs

MGD-MRK-1612, MGD-MRK-1614, MGD-MRK-2057