U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 211612, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    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, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 4.0), cortex adult (RPKM 1.9) and 6 other tissues See more
    Orthologs
    human all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    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

    Go to the top of the page Help

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (6)  1 citation

    General gene information

    Go to the top of the page Help

    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

    Go to the top of the page Help
    Preferred Names
    patched domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools