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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] See more...
Aliases for PTCHD1 Gene
Aliases for PTCHD1 Gene
External Ids for PTCHD1 Gene
- HGNC: 26392
- NCBI Entrez Gene: 139411
- Ensembl: ENSG00000165186
- OMIM®: 300828
- UniProtKB/Swiss-Prot: Q96NR3
Previous GeneCards Identifiers for PTCHD1 Gene
- GC0XP023112
- GC0XP023262
- GC0XP021094
- GC0XP023352
Summaries for PTCHD1 Gene
-
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]
GeneCards Summary for PTCHD1 Gene
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.
UniProtKB/Swiss-Prot Summary for PTCHD1 Gene
-
Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention.
Additional gene information for PTCHD1 Gene
- HGNC (26392)
- NCBI Entrez Gene (139411)
- Ensembl (ENSG00000165186)
- OMIM® (300828)
- UniProtKB/Swiss-Prot (Q96NR3)
- Open Targets Platform(ENSG00000165186)
- Monarch Initiative
- Search for PTCHD1 at DataMed
- Search for PTCHD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTCHD1 Gene
Genomics for PTCHD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PTCHD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PTCHD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTCHD1
- Top Transcription factor binding sites by QIAGEN in the PTCHD1 gene promoter:
-
- AREB6
- E47
- FOXO1
- FOXO1a
- MIF-1
- MRF-2
- Nkx5-1
- POU2F1
- POU2F1a
Genomic Locations for PTCHD1 Gene
Latest Assembly
- chrX:23,334,369-23,404,374
- (GRCh38/hg38)
- Size:
- 70,006 bases
- Orientation:
- Plus strand
Previous Assembly
- chrX:23,352,966-23,422,491
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 69,526 bases
- Orientation:
- Plus strand
- chrX:23,352,133-23,422,489
- (GRCh37/hg19 by Ensembl)
- Size:
- 70,357 bases
- Orientation:
- Plus strand
Genomic View for PTCHD1 Gene
Genes around PTCHD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.11 by HGNC
- Xp22.11 by Entrez Gene
- Xp22.11 by Ensembl
PTCHD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PTCHD1 Gene
Proteins for PTCHD1 Gene
-
Protein details for PTCHD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96NR3-PTHD1_HUMAN
- Recommended name:
- Patched domain-containing protein 1
- Protein Accession:
- Q96NR3
- B4DQH0
- Q0IJ60
- Q6P6B8
Protein attributes for PTCHD1 Gene
- Size:
- 888 amino acids
- Molecular mass:
- 101341 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for PTCHD1 Gene
Other Protein References for PTCHD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for PTCHD1
- Novus Biologicals Antibodies for PTCHD1
- Invitrogen Antibodies for PTCHD1 (AFLGC-PTCHD1)
-
Biorbyt antibodies for PTCHD1
-
Custom Antibody ServicesProSci Antibodies for PTCHD1
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PTCHD1
- Origene Custom Protein Services for PTCHD1
- Novus Biologicals proteins for PTCHD1
- antibodies-online: Show 3 available PTCHD1 Proteins ranked by validation data
- Compare Top PTCHD1 Proteins
-
Quality Products:
Assay products for research
No data available for DME Specific Peptides for PTCHD1 Gene
Domains & Families for PTCHD1 Gene
Gene Families for PTCHD1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for PTCHD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Patched domain-containing protein 1 (PTHD1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96NR3- Family:
-
- Belongs to the patched family.
Function for PTCHD1 Gene
Molecular function for PTCHD1 Gene
- UniProtKB/Swiss-Prot Function:
- Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention.
Phenotypes From GWAS Catalog for PTCHD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
Phenotypes for PTCHD1 Gene
- MGI mutant phenotypes for PTCHD1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for PTCHD1:
Animal Models for PTCHD1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PTCHD1 - Starting at $85 >
- * PTCHD1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PTCHD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PTCHD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PTCHD1
miRNA for PTCHD1 Gene
- miRTarBase miRNAs that target PTCHD1
-
- hsa-miR-128-3p (MIRT021976)
- hsa-miR-4735-3p (MIRT442744)
- hsa-miR-18b-5p (MIRT442746)
- hsa-miR-18a-5p (MIRT442747)
- hsa-miR-3613-3p (MIRT445381)
- hsa-miR-559 (MIRT445382)
- hsa-miR-548y (MIRT445383)
- hsa-miR-548w (MIRT445384)
- hsa-miR-548o-5p (MIRT445385)
- hsa-miR-548j-5p (MIRT445386)
- hsa-miR-548i (MIRT445387)
- hsa-miR-548h-5p (MIRT445388)
- hsa-miR-548d-5p (MIRT445389)
- hsa-miR-548c-5p (MIRT445390)
- hsa-miR-548bb-5p (MIRT445391)
- hsa-miR-548b-5p (MIRT445392)
- hsa-miR-548ay-5p (MIRT445393)
- hsa-miR-548au-5p (MIRT445394)
- hsa-miR-548as-5p (MIRT445395)
- hsa-miR-548ar-5p (MIRT445396)
- hsa-miR-548aq-5p (MIRT445397)
- hsa-miR-548ap-5p (MIRT445398)
- hsa-miR-548am-5p (MIRT445399)
- hsa-miR-548ak (MIRT445400)
- hsa-miR-548ae-5p (MIRT445401)
- hsa-miR-548ad-5p (MIRT445402)
- hsa-miR-548ab (MIRT445403)
- hsa-miR-548a-5p (MIRT445404)
- hsa-miR-548n (MIRT445405)
- hsa-miR-5582-3p (MIRT445406)
- hsa-miR-548f-3p (MIRT445407)
- hsa-miR-548e-3p (MIRT445408)
- hsa-miR-548az-3p (MIRT445409)
- hsa-miR-548ar-3p (MIRT445410)
- hsa-miR-548a-3p (MIRT445411)
- mmu-miR-3971 (MIRT581555)
- mmu-miR-1912-3p (MIRT581556)
- hsa-miR-574-5p (MIRT608830)
- hsa-miR-4713-5p (MIRT608831)
- hsa-miR-6867-5p (MIRT608832)
- hsa-miR-3650 (MIRT608833)
- hsa-miR-4455 (MIRT608834)
- hsa-miR-2116-3p (MIRT608835)
- hsa-miR-532-3p (MIRT608836)
- hsa-miR-150-5p (MIRT608837)
- hsa-miR-4726-3p (MIRT608838)
- hsa-miR-6764-5p (MIRT608839)
- hsa-miR-1915-3p (MIRT608840)
- hsa-miR-6840-3p (MIRT608841)
- hsa-miR-8485 (MIRT610228)
- hsa-miR-4711-3p (MIRT627809)
- hsa-miR-4796-5p (MIRT627810)
- hsa-miR-511-3p (MIRT627811)
- hsa-miR-3178 (MIRT670225)
- hsa-miR-6787-5p (MIRT670226)
- hsa-miR-663a (MIRT670227)
- hsa-miR-1908-5p (MIRT670228)
- hsa-miR-6804-3p (MIRT670229)
- hsa-miR-20b-3p (MIRT670230)
- hsa-miR-6499-5p (MIRT670231)
- hsa-miR-2114-5p (MIRT670232)
- hsa-miR-5588-3p (MIRT670233)
- hsa-miR-3675-3p (MIRT785183)
- hsa-miR-4684-5p (MIRT786405)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PTCHD1
- Browse OriGene Inhibitory RNA Products For PTCHD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTCHD1
Clone products for research
- Applied Biological Materials (abm): Clones for PTCHD1 - Starting at $45 >
- * PTCHD1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PTCHD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PTCHD1
Cell Lines for research
-
Horizon Cell Lines for PTCHD1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PTCHD1 Gene
Localization for PTCHD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PTCHD1 Gene
- Cell membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PTCHD1 Gene
Pathways & Interactions for PTCHD1 Gene
Interacting Proteins for PTCHD1 Gene
GPS-Prot Interaction Network for PTCHD1
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for PTCHD1 Gene
Transcripts for PTCHD1 Gene
mRNA/cDNA for PTCHD1 Gene
- 1 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000379361 12883 nts (view in UCSC)
- ENST00000456522 736 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PTCHD1 - Starting at $85 >
- * PTCHD1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PTCHD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PTCHD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PTCHD1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PTCHD1
- Browse OriGene Inhibitory RNA Products For PTCHD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTCHD1
Clone products for research
- Applied Biological Materials (abm): Clones for PTCHD1 - Starting at $45 >
- * PTCHD1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PTCHD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PTCHD1
Relevant External Links for PTCHD1 Gene
- GeneLoc Exon Structure for
- PTCHD1
Expression for PTCHD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Inner Cell Mass (Early Embryonic Tissues)
- Spleen (Hematopoietic System)
- Blood (Cardiovascular System)
- Head Mesenchyme (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for PTCHD1 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x8.2), Brain - Cerebellum (x7.9), and Colon - Sigmoid (x4.9).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTCHD1
SOURCE GeneReport for Unigene cluster for PTCHD1 Gene:
Hs.319503mRNA Expression by UniProt/SwissProt for PTCHD1 Gene:
Q96NR3-PTHD1_HUMAN
Tissue specificity:
Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland.
Evidence on tissue expression from TISSUES for PTCHD1 Gene
- Nervous system(4.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PTCHD1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- salivary gland
- skull
- tooth
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
- testicle
- urinary bladder
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for PTCHD1
-
OriGene qPCR primer pairs and template standards for PTCHD1
Gene Expression Assays for research
No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for PTCHD1 Gene
Orthologs for PTCHD1 Gene
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 |
- Species where no ortholog for PTCHD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for PTCHD1 Gene
- ENSEMBL:
- Gene Tree for PTCHD1 (if available)
- TreeFam:
- Gene Tree for PTCHD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PTCHD1: view image
Paralogs for PTCHD1 Gene
Variants for PTCHD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTCHD1 Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3573649 | CNV | loss | 25503493 |
| nsv521962 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
5.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.64;
13.60% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PTCHD1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTCHD1 Gene
Disorders for PTCHD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| autism x-linked 4 |
|
|
| non-syndromic x-linked intellectual disability |
|
|
| autism spectrum disorder |
|
|
| autism |
|
|
| pervasive developmental disorder |
|
|
Search PTCHD1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PTHD1_HUMAN- Autism, X-linked 4 (AUTSX4) [MIM:300830]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. {ECO:0000269 PubMed:20844286, ECO:0000269 PubMed:25131214, ECO:0000269 PubMed:25782667}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Additional Disease Information for PTCHD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for PTCHD1 Gene
Publications for PTCHD1 Gene
- Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. (PMID: 25131214) Chaudhry A … Carter MT (Clinical genetics 2015) 3 4 74
- Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. (PMID: 25782667) Torrico B … Toma C (European journal of human genetics : EJHG 2015) 3 4
- Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. (PMID: 20844286) Noor A … Vincent JB (Science translational medicine 2010) 3 4
- Functional impact of global rare copy number variation in autism spectrum disorders. (PMID: 20531469) Pinto D … Betancur C (Nature 2010) 3 41
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for PTCHD1 Gene
- Custom Antibody ServicesOriGene Antibodies for PTCHD1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PTCHD1
- Origene Custom Protein Services for PTCHD1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PTCHD1
- Browse OriGene Inhibitory RNA Products For PTCHD1
- OriGene qPCR primer pairs for PTCHD1
- OriGene qPCR primer pairs and template standards for PTCHD1
- OriGene CRISPR knockouts for PTCHD1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PTCHD1
- Sino Biological Human cDNA Clone for PTCHD1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PTCHD1
- Novus Biologicals proteins for PTCHD1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for PTCHD1 (AFLGC-PTCHD1)
- VectorBuilder Custom and pre-made DNA vectors for PTCHD1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PTCHD1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PTCHD1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PTCHD1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PTCHD1
- antibodies-online: Show 11 available PTCHD1 Antibodies ranked by validation data
- Compare Top PTCHD1 Antibodies
- antibodies-online: Search results for available PTCHD1 related products ranked by validation data
- antibodies-online: Show 3 available PTCHD1 Proteins ranked by validation data
- Compare Top PTCHD1 Proteins
- Quality Products:
- Horizon Cell Lines for PTCHD1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PTCHD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PTCHD1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PTCHD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTCHD1
- Biorbyt antibodies for PTCHD1
Sources for PTCHD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB