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Ptch1 Gene Detail
Summary
  • Symbol
    Ptch1
  • Name
    patched 1
  • Synonyms
    A230106A15Rik, Patched 1, Ptc, Ptc1
  • Feature Type
    protein coding gene
  • IDs
    MGI:105373
    NCBI Gene: 19206
  • Gene Overview
    MyGene.info: PTCH1
Location & Maps
more
  • Sequence Map
    Chr13:63508328-63573598 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      65271 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 32.80 cM
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    PTCH1, patched 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PTCH1, patched 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BCNS, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH11
  • Links
    NCBI Gene ID: 5727
    neXtProt AC: NX_Q13635

  • Chr Location
    9q22.32; chr9:95442982-95516965 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 223
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PTCH1
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Ptch1 mouse models; 3 with human PTCH1 associations

Human Disease Mouse Models
       Basal Cell Carcinoma, Susceptibility to, 1; BCC1   OMIM: 605462 View 1 model
Basal Cell Nevus Syndrome; BCNS   OMIM: 109400 View 4 models
       Medulloblastoma; MDB   OMIM: 155255 View 12 models
       Holoprosencephaly 7; HPE7   OMIM: 610828
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    15 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    127 phenotypes from 14 alleles in 27 genetic backgrounds
    63 phenotypes from multigenic genotypes
    5 images
    345 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    55
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    34
  • Spontaneous
    1
  • Targeted
    15
  • Transgenic
    3
  • Genomic Mutations
    1 involving Ptch1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    287 from dbSNP Build 142
Protein
Information
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  • UniProt
    13 Sequences
  • InterPro Domains
    IPR003392 Protein patched/dispatched
    IPR000731 Sterol-sensing domain
    IPR004766 Transmembrane receptor, patched
Molecular
Reagents
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  • All nucleic 119
    Genomic 5
    cDNA 62
    Primer pair 13
    Other 39

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-12200, MGD-MRK-33042, MGI:1924464, MGI:96966
References
more
  • Summaries
    All 1014
    Developmental Gene Expression 717
    Diseases 15
    Gene Ontology 35
    Phenotypes 345
  • Earliest
    J:23861 Sweet HO, et al., Mesenchymal dysplasia (mes). Mouse News Lett. 1988;81:70
  • Latest
    J:236232 Wang W, et al., Smad2 and Smad3 Regulate Chondrocyte Proliferation and Differentiation in the Growth Plate. PLoS Genet. 2016 Oct;12(10):e1006352

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory