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Aliases for PTCHD1 Gene

Aliases for PTCHD1 Gene

  • Patched Domain Containing 1 2 3

External Ids for PTCHD1 Gene

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 learning disability and non-syndromic x-linked intellectual disability. GO annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is PTCHD3.

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

Genomic Location for PTCHD1 Gene

Start:
23,334,015 bp from pter
End:
23,404,372 bp from pter
Size:
70,358 bases
Orientation:
Plus strand

Genomic View for PTCHD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PTCHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTCHD1 Gene

Regulatory Elements 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
    Secondary Accessions:
    • B4DQH0
    • Q0IJ60
    • Q6P6B8

    Protein attributes for PTCHD1 Gene

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

    Alternative splice isoforms for PTCHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTCHD1 Gene

Proteomics data for PTCHD1 Gene at MOPED

Post-translational modifications for PTCHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn77, Asn133, Asn167, Asn319, Asn326, Asn568, Asn599, Asn608, Asn762, and Asn818

Other Protein References for PTCHD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PTCHD1 Gene

Domains for PTCHD1 Gene

Protein Domains for PTCHD1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

PTHD1_HUMAN
Domain:
  • Contains 1 SSD (sterol-sensing) domain.:
    • Q96NR3
Family:
  • Belongs to the patched family.:
    • Q96NR3
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:0003674 molecular_function ND --
GO:0008158 hedgehog receptor activity IEA --
genes like me logo Genes that share ontologies with PTCHD1: view

miRNA for PTCHD1 Gene

miRTarBase miRNAs that target PTCHD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
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:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PTCHD1: view

Pathways 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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000368666%0d%0a9606.ENSP00000376570%0d%0a
Selected Interacting proteins: ENSP00000368666 for PTCHD1 Gene via STRING

Symbol External ID(s) Details
GALNT13

Gene Ontology (GO) - Biological Process for PTCHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway IDA 20844286
GO:0050890 cognition IMP 20844286
genes like me logo Genes that share ontologies with PTCHD1: view

No data available for Pathways by source for PTCHD1 Gene

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
PTCHD1
ECgene alternative splicing isoforms for
PTCHD1

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 (8.2), Brain - Cerebellum (7.9), and Colon - Sigmoid (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PTCHD1 Gene

SOURCE GeneReport for Unigene cluster for PTCHD1 Gene Hs.319503

mRNA 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.
genes like me logo Genes that share expressions with PTCHD1: view

Orthologs for PTCHD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTCHD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTCHD1 36
  • 97.42 (n)
  • 97.38 (a)
PTCHD1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTCHD1 36
  • 94.78 (n)
  • 99.1 (a)
PTCHD1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTCHD1 36
  • 96.32 (n)
  • 99.21 (a)
PTCHD1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptchd1 36
  • 94.07 (n)
  • 98.09 (a)
Ptchd1 16
Ptchd1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTCHD1 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTCHD1 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptchd1 36
  • 94.03 (n)
  • 98.31 (a)
chicken
(Gallus gallus)
Aves PTCHD1 36
  • 87.21 (n)
  • 94.06 (a)
PTCHD1 37
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTCHD1 37
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptchd1 36
  • 77.93 (n)
  • 87.84 (a)
zebrafish
(Danio rerio)
Actinopterygii ptchd1 36
  • 68.36 (n)
  • 71.75 (a)
ptchd1 37
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ptr 37
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-6 37
  • 18 (a)
ManyToMany
ptr-1 37
  • 17 (a)
ManyToMany
ptr-10 37
  • 19 (a)
ManyToMany
ptr-11 37
  • 14 (a)
ManyToMany
ptr-12 37
  • 14 (a)
ManyToMany
ptr-13 37
  • 15 (a)
ManyToMany
ptr-14 37
  • 15 (a)
ManyToMany
ptr-15 37
  • 19 (a)
ManyToMany
ptr-16 37
  • 16 (a)
ManyToMany
ptr-17 37
  • 18 (a)
ManyToMany
ptr-18 37
  • 16 (a)
ManyToMany
ptr-19 37
  • 19 (a)
ManyToMany
ptr-2 37
  • 22 (a)
ManyToMany
ptr-20 37
  • 17 (a)
ManyToMany
ptr-21 37
  • 16 (a)
ManyToMany
ptr-22 37
  • 16 (a)
ManyToMany
ptr-23 37
  • 15 (a)
ManyToMany
ptr-3 37
  • 15 (a)
ManyToMany
ptr-4 37
  • 14 (a)
ManyToMany
ptr-5 37
  • 16 (a)
ManyToMany
ptr-6 37
  • 17 (a)
ManyToMany
ptr-8 37
  • 14 (a)
ManyToMany
ptr-9 37
  • 18 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for PTCHD1 (if available)
TreeFam:
Gene Tree for PTCHD1 (if available)

Paralogs for PTCHD1 Gene

Paralogs for PTCHD1 Gene

Selected 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 MAF
rs868659 -- 23,372,441(-) TTCCC(C/T)GCTTT intron-variant
rs868660 -- 23,372,609(-) AACAG(C/G)ATGCC intron-variant
rs1317137 -- 23,353,905(+) ATGGA(C/T)TTGAG intron-variant
rs1317513 -- 23,393,132(+) CAAAC(C/G)ATTGA reference, synonymous-codon
rs1317583 -- 23,394,819(-) TGGGT(A/G)AATTT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv521962 CNV Gain 19592680

Relevant External Links for PTCHD1 Gene

HapMap Linkage Disequilibrium report
PTCHD1
Human Gene Mutation Database (HGMD)
PTCHD1
Locus Specific Mutation Databases (LSDB)
PTCHD1

Disorders for PTCHD1 Gene

(2) University of Copenhagen DISEASES for PTCHD1 Gene

Relevant External Links for PTCHD1

Genetic Association Database (GAD)
PTCHD1
Human Genome Epidemiology (HuGE) Navigator
PTCHD1
genes like me logo Genes that share disorders with PTCHD1: view

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

Publications for PTCHD1 Gene

  1. Functional impact of global rare copy number variation in autism spectrum disorders. (PMID: 20531469) Pinto D. … Betancur C. (Nature 2010) 3 49
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Autism Spectrum Disorders (PMID: 20301615) Pagon R.A. … Stephens K. ( 1993) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for PTCHD1 Gene

Sources for PTCHD1 Gene

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