U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    PTCHD1 patched domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 139411, updated on 5-Mar-2024

    Summary

    Official Symbol
    PTCHD1provided by HGNC
    Official Full Name
    patched domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26392
    See related
    Ensembl:ENSG00000165186 MIM:300828; AllianceGenome:HGNC:26392
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AUTSX4; DELXP22.11; CXDELp22.11
    Summary
    This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]
    Expression
    Biased expression in brain (RPKM 1.9), endometrium (RPKM 0.9) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PTCHD1 in Genome Data Viewer
    Location:
    Xp22.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (23334396..23404374)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (22917921..22987936)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (23352966..23422491)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PTCHD1 antisense RNA (head to head) Neighboring gene ReSE screen-validated silencer GRCh37_chrX:23111444-23111682 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:23155798-23156034 Neighboring gene FAM3C pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:23256953-23257600 Neighboring gene PDCL2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20702 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:23362831-23363330 Neighboring gene HIKESHI pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:23523568-23524107 Neighboring gene Sharpr-MPRA regulatory region 9198 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:23526452-23526963 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:23677931-23678536 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:23678537-23679142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:23682591-23683125 Neighboring gene Sharpr-MPRA regulatory region 11823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20704 Neighboring gene peroxiredoxin 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autism spectrum disorder
    MedGen: C1510586 GeneReviews: Not available
    Compare labs
    Autism, susceptibility to, X-linked 4
    MedGen: C0795888 OMIM: 300830 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-02-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2018-02-28)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30296, MGC149798

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    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 excitatory chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inhibitory chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-term memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in short-term memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in social behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in thalamus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    patched domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_021300.1 RefSeqGene

      Range
      5001..66934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173495.3NP_775766.2  patched domain-containing protein 1

      See identical proteins and their annotated locations for NP_775766.2

      Status: VALIDATED

      Source sequence(s)
      AC073910, BC121061, BX107899, DC351268, DC365753
      Consensus CDS
      CCDS35215.2
      UniProtKB/Swiss-Prot
      B4DQH0, Q0IJ60, Q6P6B8, Q96NR3
      UniProtKB/TrEMBL
      X5DNX9
      Related
      ENSP00000368666.4, ENST00000379361.5
      Conserved Domains (1) summary
      cl25655
      Location:105851
      Patched; Patched family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      23334396..23404374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545449.4XP_011543751.1  patched domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011543751.1

      UniProtKB/Swiss-Prot
      B4DQH0, Q0IJ60, Q6P6B8, Q96NR3
      UniProtKB/TrEMBL
      X5DNX9
      Conserved Domains (1) summary
      cl25655
      Location:105851
      Patched; Patched family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      22917921..22987936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326481.1XP_054182456.1  patched domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B4DQH0, Q0IJ60, Q6P6B8, Q96NR3
      UniProtKB/TrEMBL
      X5DNX9