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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:63656142-63721274 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 32.80 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1212 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 Chr13:63656142-63721412 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PTCH1, patched 1
  • Synonyms
    BCNS, BCNS1, NBCCS, PTC, PTC1, PTCH
  • Links
    NCBI Gene ID: 5727
    neXtProt AC: NX_Q13635
    UniProt: Q13635

  • Chr Location
    9q22.32; chr9:95442980-95517057 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Ptch1 mouse models; 9 with human PTCH1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 4 models
      
IDs
 View 12 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    153 phenotypes from 15 alleles in 29 genetic backgrounds
    68 phenotypes from multigenic genotypes
    10 images
    520 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.
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
less
  • All GO Annotations
    124
  • GO References
    36
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    2722
  • Tissues
    782
  • cDNA Data
    64
  • Literature Summary
    973
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19206 NCBI Gene Model | MGI Sequence Detail 65133 C57BL/6J ±  kb
    transcript NM_008957 RefSeq | MGI Sequence Detail 7323 ZRU/MplStud  
    polypeptide Q61115 UniProt | EBI | MGI Sequence Detail 1434 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 228
      Genomic 5
      cDNA 73
      Primer pair 51
      Other 99

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-12200, MGD-MRK-33042, MGI:1924464, MGI:5004954, MGI:96966
    References
    more
    • Summaries
      All 1429
      Developmental Gene Expression 973
      Diseases 15
      Gene Ontology 36
      Phenotypes 520
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:354888 Shiohama T, et al., Brain morphological analysis in mice with hyperactivation of the hedgehog signaling pathway. Front Neurosci. 2024;18:1449673
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory