Version 5.4
Homo sapiens Gene: PTCHD1
Summary
InnateDB Gene IDBG-51997.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PTCHD1
Gene Name patched domain containing 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000165186
Encoded Proteins
IDBP-51999
patched domain containing 1
IDBP-365391
patched domain containing 1
IDBP-807825
patched domain containing 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:23334015-23404372
Strand Forward strand
Band p22.11
Transcripts
ENST00000379361 ENSP00000368666
ENST00000456522 ENSP00000406663
ENST00000616022 ENSP00000478663
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0008158 hedgehog receptor activity
Biological Process
GO:0007224 smoothened signaling pathway
GO:0050890 cognition
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000041552
View Gene Order
ENSBTAG00000020987
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.134939 Hs.319503 Hs.552176 Hs.588460 Hs.609897
RefSeq NM_173495
HUGO
OMIM
CCDS CCDS35215
HPRD 06548
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca