Ptchd1 patched domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ptchd1provided by MGI
Official Full Name: patched domain containing 1provided by MGI
Primary source: MGI:MGI:2685233
See related: Ensembl:ENSMUSG00000041552 AllianceGenome:MGI:2685233
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm387; 9630036J22Rik
Summary: Involved in cognition; social behavior; and thalamus development. Acts upstream of or within chemical synaptic transmission and memory. Located in synapse. Is expressed in brain; future brain; olfactory epithelium; and spinal cord. Used to study attention deficit hyperactivity disorder. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human PTCHD1 (patched domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 4.0), cortex adult (RPKM 1.9) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F3; X 72.38 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (154352732..154407185, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (155569736..155624170, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence.
Title: Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence.
Results support that PTCHD1 deficiency induces a neurodevelopmental disorder causing excitatory synaptic dysfunction.
Title: Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
The Ptchd1 protein plays a critical role in the dentate gyrus and is associated with dendritic trafficking.
Title: Cellular Functions of the Autism Risk Factor PTCHD1 in Mice.
thalamic reticular nucleus-restricted deletion of Ptchd1 leads to attention deficits and hyperactivity, both of which are rescued by pharmacological augmentation of small conductance calcium-dependent potassium channel activity
Title: Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (6) 1 citation

General gene information

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Markers

AI848149 (e-PCR)
- UniSTS:166193

NoName (e-PCR)
- UniSTS:224443

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in cognition	IBA Inferred from Biological aspect of Ancestor more info
involved_in cognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cognition	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within excitatory chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inhibitory chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within long-term memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within short-term memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in smoothened signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thalamus development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: patched domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001093750.1 → NP_001087219.1 patched domain-containing protein 1

See identical proteins and their annotated locations for NP_001087219.1

Status: VALIDATED

Source sequence(s)

AK036111, AK141827, BC116312, BX088539, CJ061303

Consensus CDS

CCDS41188.1

UniProtKB/Swiss-Prot

B1AZU9, Q14B62, Q14B63, Q8BZA5

Related

ENSMUSP00000039443.6, ENSMUST00000038665.6

Conserved Domains (1) summary

cl25655
Location:105 → 851

Patched; Patched family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

154352732..154407185 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006528793.5 → XP_006528856.1 patched domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

Q14B62

Conserved Domains (1) summary

cl25655
Location:17 → 746

Patched; Patched family
XM_011247812.4 → XP_011246114.1 patched domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_011246114.1

UniProtKB/Swiss-Prot

B1AZU9, Q14B62, Q14B63, Q8BZA5

Conserved Domains (1) summary

cl25655
Location:105 → 851

Patched; Patched family
XM_036161901.1 → XP_036017794.1 patched domain-containing protein 1 isoform X3

Conserved Domains (1) summary

cl25655
Location:24 → 628

Patched; Patched family
XM_030251298.1 → XP_030107158.1 patched domain-containing protein 1 isoform X3

Conserved Domains (1) summary

cl25655
Location:24 → 628

Patched; Patched family
XM_030251297.2 → XP_030107157.1 patched domain-containing protein 1 isoform X3

Conserved Domains (1) summary

cl25655
Location:24 → 628

Patched; Patched family