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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
Chr13:63508328-63573598 bp, - strand
From VEGA annotation of GRCm38

  65271 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 western clawed frog; 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; chr9:95442982-95516965 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human PTCH1
Mutations,
alleles, and
phenotypes
All mutations/alleles(50) : Chemically induced (ENU)(1) Gene trapped(34) Spontaneous(1) Targeted(14)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Ptch1 (3)    Mutations Annotated to Human Diseases (6)   
Interactions
Ptch1 interacts with 8 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (91 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: (656 records)
Data Summary: Results (1176)    Tissues (506)    Images (343)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 3
RNA in situ 1005
In situ reporter (knock in) 58
Northern blot 30
RT-PCR 80
cDNA source data(48)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(104) Genomic(5) cDNA(54) Primer pair(12) Other(33)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000050865 (Evidence)
Ensembl Gene ModelENSMUSG00000021466 (Evidence)
Entrez Gene19206 (Evidence)
DFCITC1601646, TC1609206, TC1777265
DoTSDT.97388837, DT.94180605, DT.110965343, DT.110965325, DT.103566059
NIA Mouse Gene IndexU034899
Consensus CDS ProjectCCDS26592.1
International Mouse Knockout Project StatusPtch1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000050865 VEGA Gene Model | MGI Sequence Detail 65271 C57BL/6J ±  kb
transcript OTTMUST00000128873 VEGA | MGI Sequence Detail 7725 Not Applicable 
polypeptide OTTMUSP00000069299 VEGA | MGI Sequence Detail 1434 Not Applicable 

For the selected sequences
All sequences(92) RefSeq(14) UniProt(13)
Polymorphisms
SNPs within 2kb(289 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003392 Patched
InterPro IPR000731 Sterol-sensing domain
InterPro IPR004766 Transmembrane receptor, patched
Protein Ontology PR:000013412 protein patched homolog 1
References
(Earliest) J:23861 Sweet HO, et al., Mesenchymal dysplasia (mes). Mouse News Lett. 1988;81:70
(Latest) J:218252 De Stefano I, et al., The Patched 1 tumor-suppressor gene protects the mouse lens from spontaneous and radiation-induced cataract. Am J Pathol. 2015 Jan;185(1):85-95
All references(925)
Disease annotation references (9)
Other
accession IDs
MGD-MRK-12200, MGD-MRK-33042, MGI:1924464, MGI:96966

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
03/17/2015
MGI 5.21
The Jackson Laboratory