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Ptchd1 Gene Detail
Summary
  • Symbol
    Ptchd1
  • Name
    patched domain containing 1
  • Synonyms
    9630036J22Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685233
    NCBI Gene: 211612
  • Alliance
Location & Maps
more
  • Sequence Map
    ChrX:155573455-155623814 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      50360 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 72.38 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PTCHD1, patched domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PTCHD1, patched domain containing 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AUTSX4
  • Links
    NCBI Gene ID: 139411
    neXtProt AC: NX_Q96NR3
    UniProt: Q96NR3

  • Chr Location
    Xp22.11; chrX:23334370-23404374 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 18302
    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: PTCHD1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ptchd1 mouse models; 1 with human PTCHD1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 3 alleles in 3 genetic backgrounds
    7 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.
Male mice hemizygous for a knock-out allele exhibit impaired thalamic reticular neuron electrophysiology, highly fragmented sleep patterns, hyperactivity, impaired contextual and cued behavior, impaired avoidance learning, abnormal gait, hypotonia and hyperaggression.
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 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000019362 VEGA Gene Model | MGI Sequence Detail 50360 C57BL/6J ±  kb
    transcript OTTMUST00000046217 VEGA | MGI Sequence Detail 2768 Not Applicable  
    polypeptide OTTMUSP00000020879 VEGA | MGI Sequence Detail 888 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      287 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 6
      cDNA 5
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2147921
    References
    more
    • Summaries
      All 30
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 4
      Phenotypes 7
    • Earliest
      J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
    • Latest
      J:251210 Tora D, et al., Cellular Functions of the Autism Risk Factor PTCHD1 in Mice. J Neurosci. 2017 Dec 6;37(49):11993-12005

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory