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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]
PTCHD1 (Patched Domain Containing 1) is a Protein Coding gene. Diseases associated with PTCHD1 include Autism X-Linked 4 and Non-Syndromic X-Linked Intellectual Disability. Gene Ontology (GO) annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is PTCHD4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IBA,IDA | 20844286 |
GO:0016020 | membrane | IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0045202 | synapse | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007224 | smoothened signaling pathway | IDA | 20844286 |
GO:0007268 | chemical synaptic transmission | IBA | 21873635 |
GO:0007614 | short-term memory | IEA | -- |
GO:0007616 | long-term memory | IEA | -- |
GO:0021794 | thalamus development | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTCHD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTCHD1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PTCHD1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTCHD1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ptchd1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptchd1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTCHD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTCHD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PTCHD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ptchd1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ptchd1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Ptr 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ptr-2 31 |
|
ManyToMany | |
ptr-15 31 |
|
ManyToMany | |||
ptr-10 31 |
|
ManyToMany | |||
ptr-19 31 |
|
ManyToMany | |||
ptr-9 31 |
|
ManyToMany | |||
ptr-17 31 |
|
ManyToMany | |||
daf-6 31 |
|
ManyToMany | |||
ptr-1 31 |
|
ManyToMany | |||
ptr-6 31 |
|
ManyToMany | |||
ptr-20 31 |
|
ManyToMany | |||
ptr-21 31 |
|
ManyToMany | |||
ptr-16 31 |
|
ManyToMany | |||
ptr-18 31 |
|
ManyToMany | |||
ptr-5 31 |
|
ManyToMany | |||
ptr-22 31 |
|
ManyToMany | |||
ptr-3 31 |
|
ManyToMany | |||
ptr-13 31 |
|
ManyToMany | |||
ptr-14 31 |
|
ManyToMany | |||
ptr-23 31 |
|
ManyToMany | |||
ptr-4 31 |
|
ManyToMany | |||
ptr-11 31 |
|
ManyToMany | |||
ptr-8 31 |
|
ManyToMany | |||
ptr-12 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
620004 | Uncertain Significance: Autism, susceptibility to, X-linked 4 | 23,334,970(+) |
C/T NM_173495.3(PTCHD1):c.95C>T (p.Pro32Leu) |
MISSENSE | |
872226 | Uncertain Significance: not provided | 23,379,831(+) |
C/T NM_173495.3(PTCHD1):c.592C>T (p.His198Tyr) |
MISSENSE | |
872227 | Uncertain Significance: not provided | 23,379,953(+) |
A/T NM_173495.3(PTCHD1):c.714A>T (p.Arg238Ser) |
MISSENSE | |
872228 | Likely Pathogenic: not provided | 23,392,808(+) |
C/A NM_173495.3(PTCHD1):c.1290C>A (p.Tyr430Ter) |
NONSENSE | |
916116 | Uncertain Significance: not provided | 23,394,039(+) |
A/AT NM_173495.3(PTCHD1):c.2525dup (p.Leu842fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3573649 | CNV | loss | 25503493 |
nsv521962 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autism x-linked 4 |
|
|
non-syndromic x-linked intellectual disability |
|
|
autism spectrum disorder |
|
|
autism |
|
|
pervasive developmental disorder |
|
|