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Gene: PTCHD1 (patched domain containing 1) Homo sapiens
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Symbol: PTCHD1
Name: patched domain containing 1
Description: Involved in cognition and smoothened signaling pathway. Localizes to the plasma membrane. Implicated in autistic disorder.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AUTSX4; FLJ30296; MGC149798; patched domain-containing protein 1; PTCHD1 isoform
Orthologs:
Mus musculus (house mouse) : Ptchd1 (patched domain containing 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ptchd1 (patched domain containing 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ptchd1 (patched domain containing 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PTCHD1 (patched domain containing 1)
Canis lupus familiaris (dog) : PTCHD1 (patched domain containing 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ptchd1 (patched domain containing 1)
Sus scrofa (pig) : PTCHD1 (patched domain containing 1)
Chlorocebus sabaeus (African green monkey) : PTCHD1 (patched domain containing 1)
Heterocephalus glaber (naked mole-rat) : Ptchd1 (patched domain containing 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 EnsemblX23,334,849 - 23,404,374 (+)Ensembl
GRCh38X23,334,369 - 23,404,374 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X23,352,985 - 23,414,918 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X23,262,906 - 23,324,839 (+)NCBINCBI36hg18NCBI36
Build 34X23,112,751 - 23,172,076NCBI
CeleraX27,474,669 - 27,536,553 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX21,094,048 - 21,155,060 (+)NCBIHuRef
CHM1_1X23,384,049 - 23,445,953 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PTCHD1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1352131
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.