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Aliases for PTCHD1 Gene

Aliases for PTCHD1 Gene

  • Patched Domain Containing 1 2 3 5
  • PTCHD1 Isoform 3
  • AUTSX4 3

External Ids for PTCHD1 Gene

Previous GeneCards Identifiers for PTCHD1 Gene

  • GC0XP023112
  • GC0XP023262
  • GC0XP021094

Summaries for PTCHD1 Gene

Entrez Gene Summary 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 Intellectual Disability. GO annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is NPC1L1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTCHD1 Gene

Genomics for PTCHD1 Gene

Regulatory Elements for PTCHD1 Gene

Enhancers for PTCHD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PTCHD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PTCHD1 Gene

23,334,015 bp from pter
23,404,372 bp from pter
70,358 bases
Plus strand

Genomic View for PTCHD1 Gene

Genes around PTCHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTCHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTCHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTCHD1 Gene

Proteins for PTCHD1 Gene

  • Protein details for PTCHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Patched domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B4DQH0
    • Q0IJ60
    • Q6P6B8

    Protein attributes for PTCHD1 Gene

    888 amino acids
    Molecular mass:
    101341 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PTCHD1 Gene


neXtProt entry for PTCHD1 Gene

Proteomics data for PTCHD1 Gene at MOPED

Post-translational modifications for PTCHD1 Gene

  • Glycosylation at Asn 77, Asn 133, Asn 167, Asn 319, Asn 326, Asn 568, Asn 599, Asn 608, Asn 762, and Asn 818
  • Modification sites at PhosphoSitePlus

Other Protein References for PTCHD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PTCHD1 Gene

Domains & Families for PTCHD1 Gene

Protein Domains for PTCHD1 Gene


Suggested Antigen Peptide Sequences for PTCHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 SSD (sterol-sensing) domain.
  • Belongs to the patched family.
  • Contains 1 SSD (sterol-sensing) domain.
  • Belongs to the patched family.
genes like me logo Genes that share domains with PTCHD1: view

No data available for Gene Families for PTCHD1 Gene

Function for PTCHD1 Gene

Gene Ontology (GO) - Molecular Function for PTCHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008158 hedgehog receptor activity IEA --
genes like me logo Genes that share ontologies with PTCHD1: view
genes like me logo Genes that share phenotypes with PTCHD1: view

Human Phenotype Ontology for PTCHD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PTCHD1 Gene

miRTarBase miRNAs that target PTCHD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , 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.

Subcellular locations from

Jensen Localization Image for PTCHD1 Gene COMPARTMENTS Subcellular localization image for PTCHD1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for PTCHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 20844286
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PTCHD1: view

Pathways & Interactions for PTCHD1 Gene

SuperPathways for PTCHD1 Gene

No Data Available

Interacting Proteins for PTCHD1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000368666 for PTCHD1 Gene via STRING

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for PTCHD1 Gene


No data available for Pathways by source and SIGNOR curated interactions for PTCHD1 Gene

Drugs & Compounds for PTCHD1 Gene

No Compound Related Data Available

Transcripts for PTCHD1 Gene

mRNA/cDNA for PTCHD1 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTCHD1 Gene

Patched domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PTCHD1 Gene

No ASD Table

Relevant External Links for PTCHD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PTCHD1 Gene

mRNA expression in normal human tissues for PTCHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

SOURCE GeneReport for Unigene cluster for PTCHD1 Gene Hs.319503

mRNA Expression by UniProt/SwissProt for PTCHD1 Gene

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.
genes like me logo Genes that share expression patterns with PTCHD1: view

Primer Products

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.

Orthologs for PTCHD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PTCHD1 35
  • 94.78 (n)
  • 99.1 (a)
  • 99 (a)
(Canis familiaris)
Mammalia PTCHD1 35
  • 96.32 (n)
  • 99.21 (a)
  • 99 (a)
(Mus musculus)
Mammalia Ptchd1 35
  • 94.07 (n)
  • 98.09 (a)
Ptchd1 16
Ptchd1 36
  • 98 (a)
(Pan troglodytes)
Mammalia PTCHD1 35
  • 97.42 (n)
  • 97.38 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Ptchd1 35
  • 94.03 (n)
  • 98.31 (a)
(Monodelphis domestica)
Mammalia PTCHD1 36
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia PTCHD1 36
  • 86 (a)
(Gallus gallus)
Aves PTCHD1 35
  • 87.21 (n)
  • 94.06 (a)
  • 94 (a)
(Anolis carolinensis)
Reptilia PTCHD1 36
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ptchd1 35
  • 77.93 (n)
  • 87.84 (a)
(Danio rerio)
Actinopterygii ptchd1 35
  • 68.36 (n)
  • 71.75 (a)
ptchd1 36
  • 71 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ptr 36
  • 19 (a)
(Caenorhabditis elegans)
Secernentea daf-6 36
  • 18 (a)
ptr-1 36
  • 17 (a)
ptr-10 36
  • 19 (a)
ptr-11 36
  • 14 (a)
ptr-12 36
  • 14 (a)
ptr-13 36
  • 15 (a)
ptr-14 36
  • 15 (a)
ptr-15 36
  • 19 (a)
ptr-16 36
  • 16 (a)
ptr-17 36
  • 18 (a)
ptr-18 36
  • 16 (a)
ptr-19 36
  • 19 (a)
ptr-2 36
  • 22 (a)
ptr-20 36
  • 17 (a)
ptr-21 36
  • 16 (a)
ptr-22 36
  • 16 (a)
ptr-23 36
  • 15 (a)
ptr-3 36
  • 15 (a)
ptr-4 36
  • 14 (a)
ptr-5 36
  • 16 (a)
ptr-6 36
  • 17 (a)
ptr-8 36
  • 14 (a)
ptr-9 36
  • 18 (a)
Species with no ortholog for PTCHD1:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for PTCHD1 (if available)
Gene Tree for PTCHD1 (if available)

Paralogs for PTCHD1 Gene

Paralogs for PTCHD1 Gene

(2) SIMAP similar genes for PTCHD1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PTCHD1: view

Variants for PTCHD1 Gene

Sequence variations from dbSNP and Humsavar for PTCHD1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_064872 -
VAR_064873 -
VAR_064874 -
VAR_064875 -
VAR_064877 -

Structural Variations from Database of Genomic Variants (DGV) for PTCHD1 Gene

Variant ID Type Subtype PubMed ID
nsv521962 CNV Gain 19592680

Variation tolerance for PTCHD1 Gene

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)

Relevant External Links for PTCHD1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTCHD1 Gene

Disorders for PTCHD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PTCHD1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autism x-linked 4
  • chromosome xp22 deletion syndrome
intellectual disability
non-syndromic x-linked intellectual disability
  • mrx
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PTCHD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PTCHD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTCHD1 Gene

Publications for PTCHD1 Gene

  1. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. (PMID: 20844286) Noor A. … Vincent J.B. (Sci. Transl. Med. 2010) 3 4 67
  2. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
  3. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PMID: 22610502) Kennedy R.B. … Poland G.A. (Hum. Genet. 2012) 3
  4. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. (PMID: 21091464) Filges I. … Miny P. (Clin. Genet. 2011) 3
  5. Functional impact of global rare copy number variation in autism spectrum disorders. (PMID: 20531469) Pinto D. … Betancur C. (Nature 2010) 3

Products for PTCHD1 Gene

Sources for PTCHD1 Gene