Version: 8.0.0Date: Tue Jan 28 2025
Category
Ptchd1
(Mus musculus)Gene
Name: patched domain containing 1
Synonyms: RIKEN cDNA 9630036J22 gene, Gm387, expressed sequence AI848149, 9630036J22Rik, AI848149, gene model 387, (NCBI), RGD1564527
Source: MGI:2685233
Biotype: protein coding gene
Symbol: Ptchd1 (Mmu)
Symbol: Ptchd1
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1).
Strict Orthology Symbols: ptchd1
Alleles: Ptchd1
PTCHD1
(Homo sapiens)Gene
Name: patched domain containing 1
Synonyms: DELXP22.11, MGC149798, FLJ30296, PTCHD1 isoform, CXDELp22.11, patched domain-containing protein 1, AUTSX4
Source: HGNC:26392
Biotype: protein coding gene
Symbol: PTCHD1 (Hsa)
Symbol: PTCHD1
Synonyms: PTCHD1 isoform
Strict Orthology Symbols: ptchd1
Ptchd1
(Rattus norvegicus)Gene
Name: patched domain containing 1
Synonyms: LOC317517, similar to patched domain containing 1, RGD1564527, patched domain-containing protein 1
Source: RGD:1564527
Biotype: protein coding gene
Symbol: Ptchd1 (Rno)
Symbol: Ptchd1
Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1); INTERACTS WITH bisphenol A; copper atom; copper
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1).
Strict Orthology Symbols: ptchd1
ptchd1
(Danio rerio)Gene
Name: patched domain containing 1
Synonyms: Not Available
Source: ZFIN:ZDB-GENE-061220-1
Biotype: protein coding gene
Symbol: ptchd1 (Dre)
Symbol: ptchd1
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1).
Strict Orthology Symbols: ptchd1
ptchd1
(Xenopus tropicalis)Gene
Name: patched domain containing 1
Synonyms: patched domain containing 1, ptchd1
Source: Xenbase:XB-GENE-987908
Biotype: gene
Symbol: ptchd1
Symbol: ptchd1 (Xtr)
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1).
Synonyms: ptchd1...ptchd1...ptchd1
Strict Orthology Symbols: ptchd1
PTCHD1-AS
(Homo sapiens)Gene
Name: PTCHD1 antisense RNA (head to head)
Synonyms: PTCHD1AS1, PTCHD1AS2, PHEX-AS1, DDX53-AS1
Source: HGNC:37703
Biotype: ncRNA gene
Symbol: PTCHD1-AS (Hsa)
Symbol: PTCHD1-AS
ptchd1.L
(Xenopus laevis)Gene
Name: patched domain containing 1
Synonyms: patched domain containing 1, ptchd1.L
Source: Xenbase:XB-GENE-17333157
Biotype: gene
Symbol: ptchd1.L (Xla)
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1).
Strict Orthology Symbols: ptchd1
Symbol: ptchd1.L
ptchd1.S
(Xenopus laevis)Gene
Name: patched domain containing 1
Synonyms: patched domain containing 1, ptchd1.S
Source: Xenbase:XB-GENE-17333158
Biotype: gene
Symbol: ptchd1.S (Xla)
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1).
Strict Orthology Symbols: ptchd1
Symbol: ptchd1.S
Ptchd1as
(Mus musculus)Gene
Name: Ptchd1 antisense RNA
Synonyms: Gm15155, predicted gene 15155, predicted gene, OTTMUSG00000019350, predicted gene, ENSMUSG00000055109, ENSMUSG00000055109, OTTMUSG00000019350
Source: MGI:3642241
Biotype: lncRNA gene
Symbol: Ptchd1as (Mmu)
Symbol: Ptchd1as
Ptchd1em1Smoc
(Mus musculus)Allele/Variant
Source: MGI:7291870
Genes: Ptchd1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ptchd1
Genes: Ptchd1 (Mmu)
Symbol: Ptchd1em1Smoc
Ptchd1tm1b(KOMP)IcsOrl
(Mus musculus)Allele/Variant
Source: MGI:5763006
Genes: Ptchd1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ptchd1
Genes: Ptchd1 (Mmu)
Symbol: Ptchd1tm1b(KOMP)IcsOrl
Ptchd1em1Cya
(Mus musculus)Allele/Variant
Source: MGI:7585980
Genes: Ptchd1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ptchd1
Genes: Ptchd1 (Mmu)
Symbol: Ptchd1em1Cya
Ptchd1tm1d(KOMP)IcsOrl
(Mus musculus)Allele/Variant
Source: MGI:6111285
Genes: Ptchd1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ptchd1
Genes: Ptchd1 (Mmu)
Symbol: Ptchd1tm1d(KOMP)IcsOrl
Ptchd1em1(IMPC)Ics
(Mus musculus)Allele/Variant
Source: MGI:7781824
Genes: Ptchd1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ptchd1
Genes: Ptchd1 (Mmu)
Symbol: Ptchd1em1(IMPC)Ics
Ptchd1tm1Gfng
(Mus musculus)Allele/Variant
Source: MGI:5792575
Genes: Ptchd1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ptchd1
Genes: Ptchd1 (Mmu)
Symbol: Ptchd1tm1Gfng
Ptchd1em1Gpt
(Mus musculus)Allele/Variant
Source: MGI:7304916
Genes: Ptchd1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ptchd1
Genes: Ptchd1 (Mmu)
Symbol: Ptchd1em1Gpt
Ptchd1tm2.1Gfng
(Mus musculus)Allele/Variant
Source: MGI:5792576
Genes: Ptchd1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ptchd1
Genes: Ptchd1 (Mmu)
Symbol: Ptchd1tm2.1Gfng
Ptchd1tm2.2Gfng
(Mus musculus)Allele/Variant
Source: MGI:5792687
Genes: Ptchd1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: attention deficit hyperactivity disorder
Variant Name: Not Available
Symbol: Ptchd1
Genes: Ptchd1 (Mmu)
Symbol: Ptchd1tm2.2Gfng
Ptchd1tm1a(KOMP)IcsOrl
(Mus musculus)Allele/Variant
Source: MGI:5755971
Genes: Ptchd1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ptchd1
Genes: Ptchd1 (Mmu)
Symbol: Ptchd1tm1a(KOMP)IcsOrl
HTP Dataset Index
High-Throughput (HTP) Dataset Index metadata provided by MGI
ID: ArrayExpress:GSE80312
Tags: WT vs. mutant, genotype
Summary: Synapse development and neuronal activity represent fundamental processes for the establishment of cognitive function. Structural organization as well as signalling pathways from receptor stimulation to gene expression regulation are mediated by synaptic activity and misregulated in neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability (ID). Deleterious mutations in the PTCHD1 (Patched domain containing 1) gene have been described in male patients with X-linked ID and/or ASD. The structure of PTCHD1 protein is similar to the Patched (PTCH1) receptor; however, the cellular mechanisms and pathways associated with PTCHD1 in the developing brain are poorly determined. Here we show that PTCHD1 displays a C-terminal PDZ-binding motif that binds to the postsynaptic proteins PSD95 and SAP102. We also report that PTCHD1 is unable to rescue the canonical sonic hedgehog (SHH) pathway in cells depleted of PTCH1, suggesting that both proteins are involved in distinct cellular signalling pathways. We find that Ptchd1 deficiency in male mice (Ptchd1-/y) induces global changes in synaptic gene expression, affects the expression of the immediate-early expression genes Egr1 and Npas4 and finally impairs excitatory synaptic structure and neuronal excitatory activity in the hippocampus, leading to cognitive dysfunction, motor disabilities and hyperactivity. Thus our results support that PTCHD1 deficiency induces a neurodevelopmental disorder causing excitatory synaptic dysfunction. 6 samples RNA-seq. 3 kos, 3wts.
Symbol: Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
Name: Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
Model
Id: MGI:5797743
Synonyms: Not Available
Symbol: Ptchd1/Y [background:] C57BL/6N-Ptchd1/Ics (Mmu)
Genes: Ptchd1 (Mmu)
Alleles: Ptchd1
Name: Ptchd1/Y [background:] C57BL/6N-Ptchd1/Ics
Ptchd1tm2.1Gfng/Y Ssttm2.1(cre)Zjh/Sst+ [background:] involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J
(Mus musculus)Model
Id: MGI:5792694
Synonyms: Not Available
Symbol: Ptchd1/Y Sst/Sst<+> [background:] involves: 129S1/Sv * 129S4/SvJae * 129X1
Genes: Ptchd1 (Mmu)
Alleles: Ptchd1
Name: Ptchd1/Y Sst/Sst<+> [background:] involves: 129S1/Sv * 129S4/SvJae * 129X1
Ptchd1tm1b(KOMP)IcsOrl/Ptchd1tm1b(KOMP)IcsOrl [background:] C57BL/6N-Ptchd1tm1b(KOMP)IcsOrl/Ics
(Mus musculus)Model
Id: MGI:5797744
Synonyms: Not Available
Symbol: Ptchd1/Ptchd1 [background:] C57BL/6N-Ptchd1/Ics
Genes: Ptchd1 (Mmu)
Alleles: Ptchd1
Name: Ptchd1/Ptchd1 [background:] C57BL/6N-Ptchd1/Ics
Model
Id: MGI:5792693
Synonyms: Not Available
Symbol: Ptchd1/Y [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/6J (Mmu)
Genes: Ptchd1 (Mmu)
Alleles: Ptchd1
Name: Ptchd1/Y [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
ptr-22
(Caenorhabditis elegans)Gene
Name: PaTched Related family 22
Synonyms: CELE_Y80D3A.7, Y80D3A.7
Source: WB:WBGene00004236
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1) and PTCHD3 (patched domain containing 3 (gene
Strict Orthology Symbols: ptchd1
ptr-17
(Caenorhabditis elegans)Gene
Name: PaTched Related family 17
Synonyms: CELE_Y18D10A.7, Y18D10A.7
Source: WB:WBGene00004231
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1).
Strict Orthology Symbols: ptchd1
ptr-16
(Caenorhabditis elegans)Gene
Name: PaTched Related family 16
Synonyms: T21H3.2, CELE_T21H3.2
Source: WB:WBGene00004230
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1); PTCHD3 (patched domain containing 3 (gene/
Strict Orthology Symbols: Ptchd1...PTCHD1
ptr-4
(Caenorhabditis elegans)Gene
Name: PaTched Related family 4
Synonyms: CELE_C45B2.7, C45B2.7
Source: WB:WBGene00004219
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1) and PTCHD4 (patched domain containing 4).
Strict Orthology Symbols: PTCHD1
ptr-9
(Caenorhabditis elegans)Gene
Name: PaTched Related family 9
Synonyms: CELE_F54G8.5, F54G8.5
Source: WB:WBGene00004223
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1); PTCHD3 (patched domain containing 3 (gene/
Strict Orthology Symbols: ptchd1
Ptr
(Drosophila melanogaster)Gene
Name: Patched-related
Synonyms: Ptc related, Ptr_Dm, ptc-related-gene, Dmptr, ptc-related gene, Ptc-related, CG11212, patched-related, ptr, Ptc-related Disp-like
Source: FB:FBgn0262867
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to several human genes including PTCHD1 (patched domain containing 1) and PTCHD4 (patched
Strict Orthology Symbols: ptchd1
ptr-20
(Caenorhabditis elegans)Gene
Name: PaTched Related family 20
Synonyms: Y53F4B.28, CELE_Y53F4B.28
Source: WB:WBGene00004234
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1) and PTCHD4 (patched domain containing 4).
Strict Orthology Symbols: PTCHD1
ptr-19
(Caenorhabditis elegans)Gene
Name: PaTched Related family 19
Synonyms: Y39A1B.2, CELE_Y39A1B.2
Source: WB:WBGene00004233
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1) and PTCHD4 (patched domain containing 4).
Strict Orthology Symbols: PTCHD1
ptr-2
(Caenorhabditis elegans)Gene
Name: PaTched Related family 2
Synonyms: CELE_C32E8.8, let-575, C32E8.8
Source: WB:WBGene00004217
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to human PTCHD1 (patched domain containing 1) and PTCHD4 (patched domain containing 4).
Strict Orthology Symbols: PTCHD1
ptr-10
(Caenorhabditis elegans)Gene
Name: PaTched Related family 10
Synonyms: CELE_F55F8.1, F55F8.1
Source: WB:WBGene00004224
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to several human genes including PTCHD1 (patched domain containing 1) and PTCHD4 (patched
Strict Orthology Symbols: PTCHD1
ptr-15
(Caenorhabditis elegans)Gene
Name: PaTched Related family 15
Synonyms: CELE_T07H8.6, T07H8.6, bus-13
Source: WB:WBGene00004229
Biotype: protein coding gene
Strict Orthology Symbols: ptchd1
ptr-11
(Caenorhabditis elegans)Gene
Name: PaTched Related family 11
Synonyms: F56C11.2, CELE_F56C11.2
Source: WB:WBGene00004225
Biotype: protein coding gene
Strict Orthology Symbols: Ptchd1
Gene Ontology
Source: GO:0098977
Synonyms: Not Available
Branch: biological process
Genes: Ptchd1 (Mmu)...Ptchd1 (Rno)...PTCHD1 (Hsa)
Gene Ontology
Source: GO:0098976
Synonyms: Not Available
Branch: biological process
Genes: Ptchd1 (Rno)...Ptchd1 (Mmu)...PTCHD1 (Hsa)
Gene Ontology
Source: GO:0021794
Synonyms: Not Available
Branch: biological process
Genes: PTCHD1 (Hsa)...Ptchd1 (Rno)...Ptchd1 (Mmu)
Gene Ontology
Source: GO:0007614
Synonyms: Not Available
Branch: biological process
Genes: Ptchd1 (Rno)...Ptchd1 (Mmu)...PTCHD1 (Hsa)
Gene Ontology
Source: GO:0007616
Synonyms: Not Available
Branch: biological process
Genes: Ptchd1 (Rno)...PTCHD1 (Hsa)...Ptchd1 (Mmu)
Gene Ontology
Source: GO:0050890
Synonyms: Not Available
Branch: biological process
Genes: Ptchd1 (Rno)...PTCHD1 (Hsa)...Ptchd1 (Mmu)
Disease
Source: DOID:12849
Definition: An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
Genes: Ptchd1 (Rno)...PTCHD1 (Hsa)...ptchd1 (Dre)...Ptchd1 (Mmu)...ptchd1 (Xtr)
Gene Ontology
Source: GO:0035176
Synonyms:
- cooperative behavior
- social behaviour
Branch: biological process
Genes: Ptchd1 (Rno)...PTCHD1 (Hsa)...Ptchd1 (Mmu)
Source: DOID:1094
Definition: A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.
Genes: Ptchd1 (Rno)...PTCHD1 (Hsa)...ptchd1 (Dre)...Ptchd1 (Mmu)...ptchd1 (Xtr)
Alleles: Ptchd1
Gene Ontology
Source: GO:0007224
Synonyms:
- Shh signaling pathway
- Sonic hedgehog signaling pathway
Branch: biological process
Genes: Ptchd1 (Rno)...PTCHD1 (Hsa)...Ptchd1 (Mmu)
Gene Ontology
Source: GO:0043197
Synonyms:
- branched dendritic spine
- dendrite spine
Branch: cellular component
Genes: Ptchd1 (Rno)...PTCHD1 (Hsa)...Ptchd1 (Mmu)
Gene Ontology
Source: GO:0007268
Synonyms:
- neurotransmission
- signal transmission across a synapse
Branch: biological process
Genes: Ptchd1 (Mmu)...Ptchd1 (Rno)...PTCHD1 (Hsa)
(GRCh38)X:23335018T>C
(Homo sapiens)Allele/Variant
Source: NC_000023.11:g.23335018T>C
Genes: PTCHD1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)X:23335018T>C
Gene Synonyms: PTCHD1 isoform
(GRCh38)X:23379992T>G
(Homo sapiens)Allele/Variant
Source: rs1569140042
Genes: PTCHD1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)X:23379992T>G
Gene Synonyms: PTCHD1 isoform