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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
Chr13:63511533-63565520 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 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(49) : Chemically induced (ENU)(1) Gene trapped(33) 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 Using Mouse Ptch1 (3)    Alleles Annotated to Human Diseases(6)   
Interactions
Ptch1 interacts with 8 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (88 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: (621 records)
Data Summary: Results (1141)    Tissues (500)    Images (318)
Theiler Stages: 2, 3, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 3
RNA in situ 974
In situ reporter (knock in) 54
Northern blot 30
RT-PCR 80
cDNA source data(48)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(100) Genomic(5) cDNA(53) Primer pair(12) Other(30)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000021466 (Evidence)
Entrez Gene19206 (Evidence)
DFCITC1601646, TC1609206, TC1777265
DoTSDT.103566059, DT.110965325, DT.110965343, DT.94180605, DT.97388837
NIA Mouse Gene IndexU034899
Consensus CDS ProjectCCDS26592.1
International Mouse Knockout Project StatusPtch1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 19206 NCBI Gene Model | MGI Sequence Detail 53988 C57BL/6J ±  kb
transcript NM_008957 RefSeq | MGI Sequence Detail 4305 C57BL/6 
polypeptide Q61115 UniProt | EBI | MGI Sequence Detail 1434 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(14) UniProt(9)
Polymorphisms SNPs within 2kb(253 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
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:210838 Adolphe C, et al., Patched 1 and patched 2 redundancy has a key role in regulating epidermal differentiation. J Invest Dermatol. 2014 Jul;134(7):1981-90
All references(876)
Disease annotation references (8)
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
09/09/2014
MGI 5.19
The Jackson Laboratory