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

Gene ID: 139411, updated on 25-May-2017
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; Vega:OTTHUMG00000021251
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]
Orthologs
Location:
Xp22.11
Exon count:
4
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (23334370..23404374)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (23352985..23414918)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PTCHD1 antisense RNA (head to head) Neighboring gene FAM3C pseudogene Neighboring gene phosducin-like 2 pseudogene 1 Neighboring gene Hikeshi, heat shock protein nuclear import factor pseudogene Neighboring gene peroxiredoxin 4 Neighboring gene acyl-CoA thioesterase 9

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

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

Markers

Homology

Clone Names

  • FLJ30296, MGC149798

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
smoothened signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
thalamus development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
patched domain-containing protein 1
Names
PTCHD1 isoform

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_173495.2NP_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, OTTHUMP00000023055, ENST00000379361.4, OTTHUMT00000056047
    Conserved Domains (2) summary
    pfam02460
    Location:105851
    Patched; Patched family
    cl21543
    Location:292443
    MMPL; MMPL family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

    Range
    23334370..23404374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545449.2XP_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 (2) summary
    pfam02460
    Location:105851
    Patched; Patched family
    cl21543
    Location:292443
    MMPL; MMPL family

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    23384049..23445953
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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