Ptch1
Gene Detail

Symbol Name ID

Ptch1 patched homolog 1 MGI:105373

Synonyms

A230106A15Rik, Patched 1, Ptc, Ptc1

Feature Type

protein coding gene

Genetic Map

Chromosome 13

32.80 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)

Sequence Map

Chr13:63511533-63565520 bp, - strand From NCBI annotation of GRCm38   53988 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:223  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ptch1

Human homologs

Human Homolog		PTCH1, patched 1
NCBI Gene ID		5727
neXtProt AC		NX_Q13635
Human Synonyms		BCNS, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH11
Human Chr (Location)		9q22.3; chr9:98205264-98279247 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human PTCH1

Alleles and phenotypes

All alleles(48) : Targeted(14) Gene trapped(33) Spontaneous(1)
 

Homozygous null embryos die by day 10 with neural tube defects. Heterozygotes are large with excess cerebellar granule cell proliferation and sometimes, hindlimb defects and medulloblastomas. Hypomorphic and spontaneous mutants have reproductive defects.

 
Human Diseases Modeled Using Mouse Ptch1 (3)    Alleles Annotated to Human Diseases(5)   

Gene Ontology (GO) classifications

All GO classifications: (84 annotations)

Process	brain development, branching involved in ureteric bud morphogenesis, ...
Component	axonal growth cone, caveola, ...
Function	cholesterol binding, cyclin binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (577 records)
Data Summary: Results (1056)    Tissues (447)    Images (257)
Theiler Stages: 2, 3, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	920
In situ reporter (knock in)	27
Northern blot	29
RT-PCR	80

cDNA source data(46)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(91) Genomic(5) cDNA(50) Primer pair(12) Other(24)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000021466 (Evidence)
Entrez Gene	19206 (Evidence)
DFCI	TC1601646, TC1609206, TC1777265
DoTS	DT.103566059, DT.110965325, DT.110965343, DT.94180605, DT.97388837
NIA Mouse Gene Index	U034899
Consensus CDS Project	CCDS26592.1
International Mouse Knockout Project Status	Ptch1

Sequences

Length	Strain/Species
genomic	19206	NCBI Gene Model | MGI Sequence Detail	53988	C57BL/6J
transcript	NM_008957	RefSeq | MGI Sequence Detail	4305	C57BL/6
polypeptide	Q61115	UniProt | EBI | MGI Sequence Detail	1434	Not Applicable

All sequences(45) RefSeq(2) UniProt(9)

Polymorphisms

SNPs(221 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003392	Patched
InterPro	IPR000731	Sterol-sensing domain
InterPro	IPR004766	Transmembrane receptor, patched
Protein Ontology	PR:000013412	protein patched 1

Graphical View of Protein Domain Structure

References

(Earliest) J:23861 Sweet HO, et al., Mesenchymal dysplasia (mes). Mouse News Lett. 1988;81:70
(Latest) J:194353 Kim J, et al., Itraconazole and arsenic trioxide inhibit Hedgehog pathway activation and tumor growth associated with acquired resistance to smoothened antagonists. Cancer Cell. 2013 Jan 14;23(1):23-34
All references(802)

Other accession IDs

MGD-MRK-12200, MGD-MRK-33042, MGI:1924464, MGI:96966