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

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 32.80 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    287 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105373
protein coding gene Chr13:63508328-63573616 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020670
protein coding gene Chr13:63473092-63539069 (-)
A/J MGP_AJ_G0020624
protein coding gene Chr13:61166542-61232257 (-)
AKR/J MGP_AKRJ_G0020601
protein coding gene Chr13:63216352-63282610 (-)
BALB/cJ MGP_BALBcJ_G0020622
protein coding gene Chr13:61601785-61666746 (-)
C3H/HeJ MGP_C3HHeJ_G0020417
protein coding gene Chr13:62741767-62810608 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021058
protein coding gene Chr13:65546551-65612340 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018634
protein coding gene Chr13:58832279-58897240 (-)
CAST/EiJ MGP_CASTEiJ_G0019934
protein coding gene Chr13:62747043-62815921 (-)
CBA/J MGP_CBAJ_G0020377
protein coding gene Chr13:68068081-68135740 (-)
DBA/2J MGP_DBA2J_G0020502
protein coding gene Chr13:61014568-61080694 (-)
FVB/NJ MGP_FVBNJ_G0020481
protein coding gene Chr13:60124590-60191152 (-)
LP/J MGP_LPJ_G0020576
protein coding gene Chr13:63759517-63829774 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020510
protein coding gene Chr13:67035953-67103035 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021100
protein coding gene Chr13:62528451-62595374 (-)
PWK/PhJ MGP_PWKPhJ_G0019688
protein coding gene Chr13:60557682-60633173 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019514
protein coding gene Chr13:60675590-60746048 (-)
WSB/EiJ MGP_WSBEiJ_G0019994
protein coding gene Chr13:63003016-63069586 (-)



Homology
more
  • Human Ortholog
    PTCH1, patched 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PTCH1, patched 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BCNS, NBCCS, PTC, PTC1, PTCH
  • Links
    NCBI Gene ID: 5727
    neXtProt AC: NX_Q13635
    UniProt: Q13635

  • Chr Location
    9q22.32; chr9:95442982-95516965 (-)  GRCh38.p7

  • 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
      
IDs
View 2 models
IDs
View 4 models
      
IDs
View 12 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    14 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    150 phenotypes from 15 alleles in 28 genetic backgrounds
    63 phenotypes from multigenic genotypes
    10 images
    389 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021466 Ensembl Gene Model | MGI Sequence Detail 65271 C57BL/6J ±  kb
    transcript ENSMUST00000021921 Ensembl | MGI Sequence Detail 7725 Not Applicable  
    polypeptide ENSMUSP00000021921 Ensembl | MGI Sequence Detail 1434 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 133
      Genomic 5
      cDNA 64
      Primer pair 19
      Other 45

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-12200, MGD-MRK-33042, MGI:1924464, MGI:5004954, MGI:96966
    References
    more
    • Summaries
      All 1141
      Developmental Gene Expression 799
      Diseases 14
      Gene Ontology 38
      Phenotypes 389
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:264822 Debaugnies M, et al., YAP and TAZ are essential for basal and squamous cell carcinoma initiation. EMBO Rep. 2018 Jul;19(7)

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory