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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)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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

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

CRRD Object Information
CRRD ID: 1352131
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-10-16
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.