ENSG00000165186


Homo sapiens

Features
Gene ID: ENSG00000165186
  
Biological name :PTCHD1
  
Synonyms : patched domain containing 1 / PTCHD1 / Q96NR3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p22.11
Gene start: 23334016
Gene end: 23404372
  
Corresponding Affymetrix probe sets: 1552848_a_at (Human Genome U133 Plus 2.0 Array)   240041_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368666
Ensembl peptide - ENSP00000406663
NCBI entrez gene - 139411     See in Manteia.
OMIM - 300828
RefSeq - XM_011545449
RefSeq - NM_173495
RefSeq Peptide - NP_775766
swissprot - Q96NR3
swissprot - X5DNX9
swissprot - H7C2M0
Ensembl - ENSG00000165186
  
Related genetic diseases (OMIM): 300830 - {Autism, susceptibility to, X-linked 4}, 300830
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ptchd1ENSDARG00000018066Danio rerio
 PTCHD1ENSGALG00000016358Gallus gallus
 Ptchd1ENSMUSG00000041552Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PTCHD4 / Q6ZW05 / patched domain containing 4ENSG0000024469447
NPC1L1 / Q9UHC9 / NPC1 like intracellular cholesterol transporter 1ENSG0000001552018
PTCH2 / Q9Y6C5 / patched 2ENSG0000011742517
PTCH1 / Q13635 / patched 1ENSG0000018592017
PTCHD3 / Q3KNS1 / patched domain containing 3ENSG0000018207717
NPC1 / O15118 / NPC intracellular cholesterol transporter 1ENSG0000014145816


Protein motifs (from Interpro)
Interpro ID Name
 IPR000731  Sterol-sensing domain
 IPR003392  Protein patched/dispatched


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007224 smoothened signaling pathway IDA
 biological_processGO:0021794 thalamus development IEA
 biological_processGO:0035176 social behavior IEA
 biological_processGO:0050890 cognition IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001249 Mental retardation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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