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Ptchd1 patched domain containing 1 [ Mus musculus (house mouse) ]

Gene ID: 211612, updated on 2-Nov-2024

Summary

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Official Symbol
Ptchd1provided by MGI
Official Full Name
patched domain containing 1provided by MGI
Primary source
MGI:MGI:2685233
See related
Ensembl:ENSMUSG00000041552 AllianceGenome:MGI:2685233
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gm387; 9630036J22Rik
Summary
Involved in cognition; social behavior; and thalamus development. Acts upstream of or within chemical synaptic transmission and memory. Located in synapse. Is expressed in brain; future brain; olfactory epithelium; and spinal cord. Used to study attention deficit hyperactivity disorder. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human PTCHD1 (patched domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in cerebellum adult (RPKM 4.0), cortex adult (RPKM 1.9) and 6 other tissues See more
Orthologs
human all
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Genomic context

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See Ptchd1 in Genome Data Viewer
Location:
X F3; X 72.38 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (154352732..154407185, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (155569736..155624170, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_48138 Neighboring gene crumbs homolog 1 pseudogene Neighboring gene ribosomal protein L6 pseudogene Neighboring gene predicted gene 15155 Neighboring gene STARR-seq mESC enhancer starr_48139 Neighboring gene STARR-seq mESC enhancer starr_48140 Neighboring gene GDP-mannose 4, 6-dehydratase pseudogene Neighboring gene STARR-seq mESC enhancer starr_48141 Neighboring gene STARR-seq mESC enhancer starr_48142 Neighboring gene predicted gene, 23404

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence. Pastore SF, et al. Sci Rep, 2023 Nov 21. PMID 37990104, Free PMC Article
  2. Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse. Ung DC, et al. Mol Psychiatry, 2018 May. PMID 28416808, Free PMC Article
  3. Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice. Wells MF, et al. Nature, 2016 Apr 7. PMID 27007844, Free PMC Article
  4. Sound elicits stereotyped facial movements that provide a sensitive index of hearing abilities in mice. Clayton KK, et al. Curr Biol, 2024 Apr 22. PMID 38492568,
  5. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Noor A, et al. Sci Transl Med, 2010 Sep 15. PMID 20844286, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence.
    Title: Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence.
  2. Results support that PTCHD1 deficiency induces a neurodevelopmental disorder causing excitatory synaptic dysfunction.
    Title: Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
  3. The Ptchd1 protein plays a critical role in the dentate gyrus and is associated with dendritic trafficking.
    Title: Cellular Functions of the Autism Risk Factor PTCHD1 in Mice.
  4. thalamic reticular nucleus-restricted deletion of Ptchd1 leads to attention deficits and hyperactivity, both of which are rescued by pharmacological augmentation of small conductance calcium-dependent potassium channel activity
    Title: Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 
  • Targeted (6)  1 citation

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cognition IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cognition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cognition ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within excitatory chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within inhibitory chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within long-term memory IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within short-term memory IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in smoothened signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in social behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in thalamus development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in synapse IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
patched domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001093750.1 → NP_001087219.1  patched domain-containing protein 1

    See identical proteins and their annotated locations for NP_001087219.1

    Status: VALIDATED

    Source sequence(s)
    AK036111, AK141827, BC116312, BX088539, CJ061303
    Consensus CDS
    CCDS41188.1
    UniProtKB/Swiss-Prot
    B1AZU9, Q14B62, Q14B63, Q8BZA5
    Related
    ENSMUSP00000039443.6, ENSMUST00000038665.6
    Conserved Domains (1) summary
    cl25655
    Location:105 → 851
    Patched; Patched family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    154352732..154407185 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006528793.5 → XP_006528856.1  patched domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q14B62
    Conserved Domains (1) summary
    cl25655
    Location:17 → 746
    Patched; Patched family

  2. XM_011247812.4 → XP_011246114.1  patched domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011246114.1

    UniProtKB/Swiss-Prot
    B1AZU9, Q14B62, Q14B63, Q8BZA5
    Conserved Domains (1) summary
    cl25655
    Location:105 → 851
    Patched; Patched family

  3. XM_036161901.1 → XP_036017794.1  patched domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    cl25655
    Location:24 → 628
    Patched; Patched family

  4. XM_030251298.1 → XP_030107158.1  patched domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    cl25655
    Location:24 → 628
    Patched; Patched family

  5. XM_030251297.2 → XP_030107157.1  patched domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    cl25655
    Location:24 → 628
    Patched; Patched family
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14B62.2 GenPept UniProtKB/Swiss-Prot:Q14B62

Gene LinkOut

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