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Aliases for PTCH1 Gene

Aliases for PTCH1 Gene

  • Patched 1 2 3
  • NBCCS 3 6
  • PTCH 3 4
  • BCNS 3 6
  • HPE7 3 6
  • PTC1 3 4
  • PTC 3 4
  • Patched Homolog 1 (Drosophila) 2
  • Patched (Drosophila) Homolog 2
  • Patched Homolog (Drosophila) 2
  • Protein Patched Homolog 1 3
  • PTCH Protein -3,4,5 3
  • PTCH Protein +12b 3
  • PTCH Protein -10 3
  • PTCH Protein +4 3
  • PTCH11 3

External Ids for PTCH1 Gene

Previous HGNC Symbols for PTCH1 Gene

  • NBCCS
  • PTCH

Previous GeneCards Identifiers for PTCH1 Gene

  • GC09M097246
  • GC09M098205
  • GC09M067814

Summaries for PTCH1 Gene

Entrez Gene Summary for PTCH1 Gene

  • This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]

GeneCards Summary for PTCH1 Gene

PTCH1 (Patched 1) is a Protein Coding gene. Diseases associated with PTCH1 include basal cell nevus syndrome and holoprosencephaly-7. Among its related pathways are Signaling by GPCR and Proteoglycans in cancer. GO annotations related to this gene include heparin binding and cholesterol binding. An important paralog of this gene is NPC1L1.

UniProtKB/Swiss-Prot for PTCH1 Gene

  • Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehogs proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.

Gene Wiki entry for PTCH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTCH1 Gene

Genomics for PTCH1 Gene

Regulatory Elements for PTCH1 Gene

Transcription factor binding sites by QIAGEN in the PTCH1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PTCH1 Gene

Start:
95,442,980 bp from pter
End:
95,517,057 bp from pter
Size:
74,078 bases
Orientation:
Minus strand

Genomic View for PTCH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PTCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTCH1 Gene

Proteins for PTCH1 Gene

  • Protein details for PTCH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13635-PTC1_HUMAN
    Recommended name:
    Protein patched homolog 1
    Protein Accession:
    Q13635
    Secondary Accessions:
    • A3KBI9
    • E9PEJ8
    • Q13463
    • Q5R1U7
    • Q5R1U9
    • Q5R1V0
    • Q5VZC0
    • Q5VZC2
    • Q86XG7

    Protein attributes for PTCH1 Gene

    Size:
    1447 amino acids
    Molecular mass:
    160545 Da
    Quaternary structure:
    • Interacts with SNX17. Interacts with IHH.

    Alternative splice isoforms for PTCH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTCH1 Gene

Proteomics data for PTCH1 Gene at MOPED

Post-translational modifications for PTCH1 Gene

  • Glycosylation is necessary for SHH binding.
  • In the absence of Hh ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation.
  • Glycosylation at Asn141, Asn312, Asn349, Asn414, Asn875, and Asn1000
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for PTCH1 (Patched 1/PTCH)
  • Cell Signaling Technology (CST) Antibodies for PTCH1 (PTCH1)

No data available for DME Specific Peptides for PTCH1 Gene

Domains for PTCH1 Gene

Protein Domains for PTCH1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q13635

UniProtKB/Swiss-Prot:

PTC1_HUMAN :
  • Q13635
Domain:
  • Contains 1 SSD (sterol-sensing) domain.
Family:
  • Belongs to the patched family.
genes like me logo Genes that share domains with PTCH1: view

No data available for Gene Families for PTCH1 Gene

Function for PTCH1 Gene

Molecular function for PTCH1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehogs proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.

Gene Ontology (GO) - Molecular Function for PTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005113 patched binding IEA --
GO:0005119 smoothened binding IPI 11278759
GO:0005515 protein binding IPI 19561609
GO:0008158 hedgehog receptor activity IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with PTCH1: view
genes like me logo Genes that share phenotypes with PTCH1: view

Animal Models for PTCH1 Gene

MGI Knock Outs for PTCH1:

Animal Model Products

miRNA for PTCH1 Gene

miRTarBase miRNAs that target PTCH1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTCH1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PTCH1 Gene

Localization for PTCH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTCH1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTCH1 Gene COMPARTMENTS Subcellular localization image for PTCH1 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 2
extracellular 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 colocalizes_with Golgi apparatus IDA 11278759
GO:0005886 plasma membrane IDA 11278759
GO:0005901 caveola IDA 11278759
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with PTCH1: view

Pathways for PTCH1 Gene

genes like me logo Genes that share pathways with PTCH1: view

PCR Array Products

Gene Ontology (GO) - Biological Process for PTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 16229683
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001841 neural tube formation --
GO:0001843 neural tube closure IEA --
genes like me logo Genes that share ontologies with PTCH1: view

Compounds for PTCH1 Gene

(4) Novoseek inferred chemical compound relationships for PTCH1 Gene

Compound -log(P) Hits PubMed IDs
cyclopamine 92.5 7
zinc 0 2
tyrosine 0 1
paraffin 0 1
genes like me logo Genes that share compounds with PTCH1: view

Transcripts for PTCH1 Gene

Unigene Clusters for PTCH1 Gene

Patched 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTCH1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTCH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a ·
SP1: - - - - - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5: - - - -
SP6: - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PTCH1 Gene

GeneLoc Exon Structure for
PTCH1
ECgene alternative splicing isoforms for
PTCH1

Expression for PTCH1 Gene

mRNA expression in normal human tissues for PTCH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTCH1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (4.5) and Brain - Cerebellum (4.2).

Protein differential expression in normal tissues for PTCH1 Gene

This gene is overexpressed in Saliva (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PTCH1 Gene

SOURCE GeneReport for Unigene cluster for PTCH1 Gene Hs.494538

mRNA Expression by UniProt/SwissProt for PTCH1 Gene

Q13635-PTC1_HUMAN
Tissue specificity: In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin
genes like me logo Genes that share expressions with PTCH1: view

Expression partners for PTCH1 Gene

In Situ Assay Products

Orthologs for PTCH1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PTCH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PTCH1 35
  • 91.12 (n)
  • 96.4 (a)
-- 36
  • 97 (a)
OneToMany
PTCH1 36
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PTCH1 35
  • 90.77 (n)
  • 95.71 (a)
PTCH1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptch1 35
  • 89.12 (n)
  • 96.44 (a)
Ptch1 16
Ptch1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PTCH1 35
  • 98.93 (n)
  • 98.91 (a)
rat
(Rattus norvegicus)
Mammalia Ptch1 35
  • 88.81 (n)
  • 96.36 (a)
oppossum
(Monodelphis domestica)
Mammalia PTCH1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTCH1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTCH1 35
  • 79.26 (n)
  • 89.77 (a)
PTCH1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTCH1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptch1 35
  • 74.8 (n)
  • 82.78 (a)
African clawed frog
(Xenopus laevis)
Amphibia Ptc1 35
zebrafish
(Danio rerio)
Actinopterygii ptc2 35
ptch1 35
  • 75.24 (n)
  • 83.63 (a)
ptch1 36
  • 78 (a)
OneToMany
ptch1 36
  • 73 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011395 35
  • 38.97 (n)
  • 27.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta ptc 35
  • 53.01 (n)
  • 43.96 (a)
ptc 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptc-2 35
  • 48.83 (n)
  • 41.04 (a)
ptc-1 36
  • 31 (a)
ManyToMany
ptc-2 36
  • 37 (a)
ManyToMany
ptc-3 36
  • 31 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCR1 36
  • 17 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6336 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for PTCH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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 PTCH1 Gene

ENSEMBL:
Gene Tree for PTCH1 (if available)
TreeFam:
Gene Tree for PTCH1 (if available)

Paralogs for PTCH1 Gene

Paralogs for PTCH1 Gene

Selected SIMAP similar genes for PTCH1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for PTCH1 Gene

genes like me logo Genes that share paralogs with PTCH1: view

Variants for PTCH1 Gene

Sequence variations from dbSNP and Humsavar for PTCH1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs357564 Benign, - 95,447,312(+) TGTAG(A/G)GGGGT reference, missense, nc-transcript-variant
rs357565 -- 95,443,161(+) GTACA(A/C)TATTT utr-variant-3-prime, downstream-variant-500B
rs357566 -- 95,452,882(+) AACCC(A/G)AGACA intron-variant
rs473902 -- 95,493,953(-) CACGC(A/C)GGGGC intron-variant
rs481783 -- 95,470,674(-) CCGGC(A/T)TCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTCH1 Gene

Variant ID Type Subtype PubMed ID
nsv831658 CNV Gain 17160897
dgv1228n67 CNV Gain 20364138
nsv824996 CNV Gain 20364138
esv5236 CNV Deletion 18987735
esv2738802 CNV Deletion 23290073
esv1011041 CNV Deletion 20482838
nsv415659 CNV Loss 16902084
esv1142459 CNV Deletion 17803354
esv2668915 CNV Deletion 23128226

Relevant External Links for PTCH1 Gene

HapMap Linkage Disequilibrium report
PTCH1
Human Gene Mutation Database (HGMD)
PTCH1
Locus Specific Mutation Databases (LSDB)
PTCH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTCH1 Gene

Disorders for PTCH1 Gene

(3) OMIM Diseases for PTCH1 Gene (601309)

UniProtKB/Swiss-Prot

PTC1_HUMAN
  • Basal cell nevus syndrome (BCNS) [MIM:109400]: An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. {ECO:0000269 PubMed:11231326, ECO:0000269 PubMed:15459969, ECO:0000269 PubMed:8840969, ECO:0000269 PubMed:8981943, ECO:0000269 PubMed:9620294}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. {ECO:0000269 PubMed:8658145, ECO:0000269 PubMed:9620294}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Holoprosencephaly 7 (HPE7) [MIM:610828]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. {ECO:0000269 PubMed:11941477, ECO:0000269 PubMed:17001668, ECO:0000269 PubMed:17096318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(68) Novoseek inferred disease relationships for PTCH1 Gene

Disease -log(P) Hits PubMed IDs
nevoid basal cell carcinoma syndrome 98 104
basal cell carcinoma, multiple 93.1 13
keratocysts 92.2 41
carcinoma basal cell 91.8 99
jaw cysts 89.8 9

Relevant External Links for PTCH1

GeneTests
PTCH1
GeneReviews
PTCH1
Genetic Association Database (GAD)
PTCH1
Human Genome Epidemiology (HuGE) Navigator
PTCH1
genes like me logo Genes that share disorders with PTCH1: view

No data available for Genatlas for PTCH1 Gene

Publications for PTCH1 Gene

  1. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. (PMID: 8658145) Johnson R.L. … Scott M.P. (Science 1996) 2 3 4 23
  2. Identification of PATCHED mutations in medulloblastomas by direct sequencing. (PMID: 10874314) Dong J. … Bale A.E. (Hum. Mutat. 2000) 3 4 23
  3. Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. (PMID: 11231326) Reifenberger J. … Hauschild A. (J. Invest. Dermatol. 2001) 3 4 23
  4. PTCH mutations in squamous cell carcinoma of the skin. (PMID: 11286632) Ping X.L. … Tsou H.C. (J. Invest. Dermatol. 2001) 3 4 23
  5. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. (PMID: 11941477) Ming J.E. … Muenke M. (Hum. Genet. 2002) 3 4 23

Products for PTCH1 Gene

  • Addgene plasmids for PTCH1

Sources for PTCH1 Gene

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