Format

Send to:

Choose Destination

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

Gene ID: 139411, updated on 4-Jul-2021

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
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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (23334369..23404374)
105.20201022 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 FAM3C pseudogene Neighboring gene PDCL2 pseudogene 1 Neighboring gene HIKESHI pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 11823 Neighboring gene peroxiredoxin 4 Neighboring gene acyl-CoA thioesterase 9

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
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
involved_in cognition IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

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
    Q96NR3
    UniProtKB/TrEMBL
    X5DNX9
    Related
    ENSP00000368666.4, ENST00000379361.5
    Conserved Domains (1) summary
    cl25655
    Location:105851
    Patched; Patched family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    23334369..23404374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545449.3XP_011543751.1  patched domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011543751.1

    UniProtKB/Swiss-Prot
    Q96NR3
    UniProtKB/TrEMBL
    X5DNX9
    Conserved Domains (1) summary
    cl25655
    Location:105851
    Patched; Patched family
Support Center