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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PTCH1 Gene

protein-coding   GIFtS: 66
GCID: GC09M098205

Patched 1

(Previous names: patched (Drosophila) homolog, patched homolog (Drosophila),...)
(Previous symbols: NBCCS, PTCH)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Patched 11 2     Patched Homolog (Drosophila)1
PTCH1 2 3     Patched Homolog 1 (Drosophila)1
NBCCS1 2 5     PTCH112
PTC2 3     Protein Patched Homolog 12
PTC12 3     PTCH Protein +12b2
BCNS2 5     PTCH Protein +4'2
HPE72 5     PTCH Protein -102
Patched (Drosophila) Homolog1     PTCH Protein -3,4,52

External Ids:    HGNC: 95851   Entrez Gene: 57272   Ensembl: ENSG000001859207   OMIM: 6013095   UniProtKB: Q136353   

Export aliases for PTCH1 gene to outside databases

Previous GC identifers: GC09M097246 GC09M067814


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 nevoid basal cell carcinoma syndrome, and basaloid follicular hamartoma, and among its related super-pathways are Hedgehog Pathway and GPCR downstream signaling. GO annotations related to this gene include cholesterol binding and heparin binding. An important paralog of this gene is NPC1.

UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635
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 hedgehog's 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTCH1 gene promoter:
         MyoD   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): PTCH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PTCH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTCH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22.3   Ensembl cytogenetic band:  9q22.32   HGNC cytogenetic band: 9q22.1-q31

PTCH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTCH1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M098205:  view genomic region     (about GC identifiers)

Start:
98,205,262 bp from pter      End:
98,279,339 bp from pter
Size:
74,078 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635 (See protein sequence)
Recommended Name: Protein patched homolog 1  
Size: 1447 amino acids; 160545 Da
Subunit: Interacts with SNX17
Subcellular location: Membrane; Multi-pass membrane protein
Developmental stage: In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral
neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud
Secondary accessions: A3KBI9 E9PEJ8 Q13463 Q5R1U7 Q5R1U9 Q5R1V0 Q5VZC0 Q5VZC2 Q86XG7
Alternative splicing: 4 isoforms:  Q13635-1   Q13635-2   Q13635-3   Q13635-4   

Explore the universe of human proteins at neXtProt for PTCH1: NX_Q13635

Explore proteomics data for PTCH1 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylation is necessary for SHH binding (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13635

  • PTCH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTCH1 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_000255.2  NP_001077071.1  NP_001077072.1  NP_001077073.1  NP_001077074.1  NP_001077075.1  NP_001077076.1  

    ENSEMBL proteins: 
     ENSP00000332353   ENSP00000364439   ENSP00000410287   ENSP00000414823   ENSP00000364423  
     ENSP00000364420   ENSP00000449078   ENSP00000447797   ENSP00000447008   ENSP00000447878  
     ENSP00000448843   ENSP00000450047   ENSP00000449745   ENSP00000450131   ENSP00000447242  
     ENSP00000389744   ENSP00000399981   ENSP00000396135  
    Reactome Protein details: Q13635
    Human Recombinant Protein Products for PTCH1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for PTCH1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for PTCH1
    GenScript Custom Purified and Recombinant Proteins Services for PTCH1
    Novus Biologicals PTCH1 Proteins
    Novus Biologicals PTCH1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PTCH1 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794colocalizes with Golgi apparatus IDA11278759
    GO:0005886plasma membrane IDA11278759
    GO:0005901caveola IDA11278759
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    PTCH1 for ontologies           About GeneDecksing



    PTCH1 Antibody Products: 
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    Novus Biologicals PTCH1 Antibodies
    Abcam antibodies for PTCH1
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    ThermoFisher Antibodies for PTCH1
    LSBio Antibodies in human, mouse, rat for PTCH1 

    Assay Products for PTCH1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PTCH1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PTCH1 
    Cloud-Clone Corp. CLIAs for PTCH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR003392 Patched
     IPR000731 SSD
     IPR004766 TM_rcpt_patched

    Graphical View of Domain Structure for InterPro Entry Q13635

    ProtoNet protein and cluster: Q13635

    1 Blocks protein domain: IPB003392 Patched family

    UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635
    Similarity: Belongs to the patched family
    Similarity: Contains 1 SSD (sterol-sensing) domain


    PTCH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTC1_HUMAN, Q13635
    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 hedgehog's 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): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005113patched binding IEA--
    GO:0005119smoothened binding IPI11278759
    GO:0005515protein binding IPI19561609
    GO:0008158hedgehog receptor activity IEA--
    GO:0008201heparin binding IEA--
         
    PTCH1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PTCH1:
     Proliferating cells 

         15/25 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Ptch1) (see all 25):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system  immune system 
     integument  limbs/digits/tail  mortality/aging  muscle  nervous system 

    PTCH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PTCH1: Ptch1tm1.1Bjw Ptch1tm1.1Yy Ptch1tm1Kmmt Ptch1tm2Mps Ptch1tm1.1Hahn Ptch1tm1Zim

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PTCH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PTCH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTCH1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTCH1 

    miRNA
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    8/128 QIAGEN miScript miRNA Assays for microRNAs that regulate PTCH1 (see all 128):
    hsa-miR-3130-5p hsa-miR-548j hsa-miR-100* hsa-miR-3194-5p hsa-miR-300 hsa-miR-15a hsa-miR-200a hsa-miR-605
    SwitchGear 3'UTR luciferase reporter plasmidPTCH1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for PTCH1
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    GenScript: all cDNA clones in your preferred vector (see all 7): PTCH1 (NM_000264)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTCH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTCH1
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                         Customized lentivirus expression plasmids for stable overexpression of PTCH1 

    Cell Line
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    Search LifeMap BioReagents cell lines for PTCH1
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTCH1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PTCH1 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    Hedgehog Signaling Pathway0.32
    Hedgehog Pathway0.32
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    3Basal cell carcinoma
    Hedgehog signaling pathway0.43
    Basal cell carcinoma0.43
    4Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    5Class A/1 (Rhodopsin-like receptors)
    GPCR ligand binding0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PTCH1
        Development Hedgehog and PTH signaling pathways in bone and cartilage development


    1 Cell Signaling Technology (CST) Pathway for PTCH1
        Wnt / Hedgehog / Notch

    1 Tocris Bioscience Pathway for PTCH1
        Hedgehog Pathway

    1 GeneGo (Thomson Reuters) Pathway for PTCH1
        Development Hedgehog and PTH signaling pathways in bone and cartilage development

    5 BioSystems Pathways for PTCH1
        Hedgehog Signaling Pathway
    Endochondral Ossification
    Glypican 3 network
    Hedgehog signaling events mediated by Gli proteins
    Signaling events mediated by the Hedgehog family

    4        Reactome Pathways for PTCH1
        Signal Transduction
    Signaling by GPCR
    GPCR ligand binding
    Class B/2 (Secretin family receptors)


    4         Kegg Pathways  (Kegg details for PTCH1):
        Hedgehog signaling pathway
    Pathways in cancer
    Proteoglycans in cancer
    Basal cell carcinoma


    PTCH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTCH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/63 Interacting proteins for PTCH1 (Q136353 ENSP000003323534) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000204197Q9BW193I2D: score=3 
    ENSG00000233450Q9BW193I2D: score=3 
    KIFC1Q9BW193I2D: score=3 
    SHHQ154653, ENSP000002972614I2D: score=3 STRING: ENSP00000297261
    BMP4P126443, ENSP000002454514I2D: score=1 STRING: ENSP00000245451
    About this table

    Gene Ontology (GO): 5/47 biological process terms (GO ID links to tree view) (see all 47):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP16229683
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0001841neural tube formation ----
    GO:0001843neural tube closure IEA--
    GO:0003007heart morphogenesis IEA--

    PTCH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PTCH1 for compounds           About GeneDecksing

    EMD Millipore small molecules for PTCH1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PTCH1 (PTC1)

    4 Novoseek inferred chemical compound relationships for PTCH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclopamine 92.5 7 17914115 (1), 19047091 (1), 15492281 (1), 17683069 (1) (see all 7)
    zinc 0 2 9071574 (1), 9186526 (1)
    tyrosine 0 1 10652431 (1)
    paraffin 0 1 10375116 (1)

    Search CenterWatch for drugs/clinical trials and news about PTCH1 / PTC1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PTCH1 gene (7 alternative transcripts): 
    NM_000264.3  NM_001083602.1  NM_001083603.1  NM_001083604.1  NM_001083605.1  NM_001083606.1  NM_001083607.1  

    Unigene Cluster for PTCH1:

    Patched 1
    Hs.494538  [show with all ESTs]
    Unigene Representative Sequence: NM_001083602
    18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000331920(uc010mrp.3 uc004avk.4) ENST00000546744(uc010mrn.3)
    ENST00000375290 ENST00000430669 ENST00000429896 ENST00000375274(uc010mrs.1)
    ENST00000547615 ENST00000549678 ENST00000375271 ENST00000488809 ENST00000548420(uc010mru.1)
    ENST00000553011 ENST00000551845(uc010mrt.1) ENST00000547672 ENST00000546820
    ENST00000548379 ENST00000548945 ENST00000550914
    miRNA
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      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTCH1

    Additional mRNA sequence: 

    AB189436.1 AB189437.1 AB189438.1 AB189439.1 AB189440.1 AB212827.1 AB214500.1 AB233422.1 
    AB233423.1 AB239329.1 AK124593.1 BC043542.1 U43148.1 U59464.1 

    11 DOTS entries:

    DT.444879  DT.101976533  DT.100709393  DT.304333  DT.40113582  DT.91678837  DT.121162869  DT.95322607 
    DT.121162904  DT.91673750  DT.95265551 

    24/80 AceView cDNA sequences (see all 80):

    NM_000264 AI803420 BC043542 AW119068 AI141170 BX485755 AU125183 BI850526 
    AA918336 BI793127 AI494319 BQ005636 AK124593 AL044174 AI733023 CB216042 
    U59464 BE263745 AW304946 AU129081 BM720425 AU134292 AA916337 AI494442 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for PTCH1 (see all 12)    About this scheme

    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:        -     -           -                       -                                                                                                         

    ExUns: 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
    SP1:              -                                                   
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for PTCH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PTCH1 expression in normal human tissues (normalized intensities)      PTCH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAAAAAAT
    PTCH1 Expression
    About this image


    PTCH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/51 selected tissues (see all 51) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 49 entries
             Immature Endochondral Osteoblasts Thoracic Vertebrae
             Thoracic Rib
             Bone marrow-derived mesenchymal stem cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 36 entries
             Chondrocytes Nasal Capsule
     
     Somite (Muscoskeletal System)    fully expand to see all 17 entries
             Muscle Progenitor Cells Sacral Dorsomedial Dermomyotome Lip
             mesenchyme/trunk mesenchyme/paraxial mesenchyme   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 17 entries
             Muscle Progenitor Cells Sacral Dorsomedial Dermomyotome Lip
             skeletal muscle ; myocytes   
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Late MN Progenitor Cells Motor Neural Progenitor Domain
             Amygdala
             Midbrain   

    See PTCH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PTCH1

    SOURCE GeneReport for Unigene cluster: Hs.494538

    UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including PTCH1 (see all 6): 
              Estrogen Receptor Signaling in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              WNT Signaling Targets in human mouse rat
              Primary Cilia in human mouse rat
              Stem Cell Signaling in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for PTCH1 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptch11 , 5 patched homolog 11, 5 89.26(n)1
    96.58(a)1
      13 (32.80 cM)5
    192061  NM_008957.21  NP_032983.11 
     635115335 
    chicken
    (Gallus gallus)
    Aves PTCH11 patched 1 78.77(n)
    88.8(a)
      395806  NM_204960.1  NP_990291.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTCH16
    Uncharacterized protein
    86(a)
    1 ↔ 1
    2(40419310-40471831)
    African clawed frog
    (Xenopus laevis)
    Amphibia Ptc12 patched-1 76.26(n)    AF302765.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ptc22 patched2 77.66(n)   30189  AJ007742.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ptc1 patched 51.59(n)
    41.47(a)
      35851  NM_078937.3  NP_523661.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ptc-11 Protein PTC-1 48.4(n)
    40.05(a)
      174274  NM_063261.3  NP_495662.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NCR16
    Vacuolar membrane protein that transits through th...
    17(a)
    1 → many
    XVI(544631-548143)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PTCH1 gene
    NPC12  NPC1L12  PTCHD32  PTCH22  PTCHD42  PTCHD12  
    2 SIMAP similar genes for PTCH1 using alignment to 8 protein entries:     PTC1_HUMAN (see all proteins):
    PTCH    PTCH2

    PTCH1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PTCH1
    PGOHUM00000249651


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1790 SNPs in PTCH1 are shown (see all 1790)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0078474
    Basal cell nevus syndrome (BCNS)4--see VAR_0078472 R W mis40--------
    VAR_0109754
    Basal cell nevus syndrome (BCNS)4--see VAR_0109752 G V mis40--------
    VAR_0329534
    Holoprosencephaly 7 (HPE7)4--see VAR_0329532 A G mis40--------
    VAR_0109804
    Basal cell nevus syndrome (BCNS)4--see VAR_0109802 S P mis40--------
    VAR_0109764
    Basal cell nevus syndrome (BCNS)4--see VAR_0109762 D Y mis40--------
    VAR_0329554
    Holoprosencephaly 7 (HPE7)4--see VAR_0329552 V G mis40--------
    VAR_0329544
    Holoprosencephaly 7 (HPE7)4--see VAR_0329542 T M mis40--------
    VAR_0329524
    Holoprosencephaly 7 (HPE7)4--see VAR_0329522 A T mis40--------
    VAR_0078434
    Basal cell nevus syndrome (BCNS)4--see VAR_0078432 L P mis40--------
    VAR_0109744
    Basal cell nevus syndrome (BCNS)4--see VAR_0109742 G R mis40--------

    HapMap Linkage Disequilibrium report for PTCH1 (98205262 - 98279339 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for PTCH1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1142459CNV Deletion17803354
    esv2668915CNV Deletion23128226
    esv1011041CNV Deletion20482838
    esv5236CNV Deletion18987735
    esv2738802CNV Deletion23290073
    nsv415659CNV Loss16902084
    dgv1228n67CNV Gain20364138
    nsv831658CNV Gain17160897
    nsv824996CNV Gain20364138


    Human Gene Mutation Database (HGMD): PTCH1

    Locus Specific Mutation Databases (LSDB): PTCH1
    5 SABiosciences Cancer Mutation PCR Assays for PTCH1:
    Cosmic IdAA Change
    17472p.Q417*
    14440p.Q365*
    26363p.Q816*
    17471p.M561R
    14446p.W1018*
    5 SABiosciences Cancer Mutation PCR Arrays containing PTCH1:
    Tyrosine Kinases & Cell Signaling Pathways Panel 384HT
    Cancer Comprehensive Panel 384HT
    Head & Neck Cancer
    Tumor Suppressor Panel 384HT
    Skin Cancers
    SeqTarget long-range PCR primers for resequencing PTCH1
    DNA2.0 Custom Variant and Variant Library Synthesis for PTCH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601309   
    OMIM disorders: 109400  605462  610828  
    UniProtKB/Swiss-Prot: PTC1_HUMAN, Q13635
  • 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. 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. 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 20/110 diseases for PTCH1 (see all 110):    About MalaCards
    nevoid basal cell carcinoma syndrome    basaloid follicular hamartoma    syringocystadenoma papilliferum    medulloblastoma, desmoplastic
    transitional cell carcinoma    testicular thecoma    cerebellar liponeurocytoma    ovarian fibroma
    skin tag    septopreoptic holoprosencephaly    partial third-nerve palsy    microform holoprosencephaly
    basal cell carcinoma, somatic    ptch1-related holoprosencephaly    basal cell carcinoma, multiple    semilobar holoprosencephaly
    lobar holoprosencephaly    alobar holoprosencephaly    multiple familial trichoepithelioma    chromosome 9q deletion

    8 diseases from the University of Copenhagen DISEASES database for PTCH1:
    Nevoid basal cell carcinoma syndrome     Basal cell carcinoma     Medulloblastoma     Thyroid cancer
    Amblyopia     Holoprosencephaly     Rhabdomyosarcoma     Polydactyly

    PTCH1 for disorders           About GeneDecksing

    10/68 Novoseek inferred disease relationships for PTCH1 gene (see all 68)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nevoid basal cell carcinoma syndrome 98 131 18302678 (4), 19557015 (2), 18272036 (2), 8352281 (2) (see all 92)
    basal cell carcinoma, multiple 93.1 15 8001963 (1), 7829076 (1), 12175781 (1), 15690381 (1) (see all 13)
    keratocysts 92.2 53 15316550 (3), 16931872 (3), 11277394 (3), 12407090 (3) (see all 28)
    carcinoma basal cell 91.8 113 11174390 (2), 11340611 (2), 9354420 (2), 15545745 (2) (see all 87)
    jaw cysts 89.8 10 15545745 (2), 7829076 (1), 9071574 (1), 11000293 (1) (see all 8)
    medulloblastoma 87.2 81 10375116 (7), 18347096 (6), 10874314 (4), 10738305 (4) (see all 39)
    odontogenic tumors 77.4 13 16376138 (3), 18502968 (2), 19082818 (2), 19915949 (1) (see all 7)
    holoprosencephaly 72.5 6 17001668 (2), 18830227 (2), 17103456 (1)
    lobar holoprosencephaly 69.3 1 17825514 (1)
    odontogenic cysts 68.9 3 11555162 (1), 19473442 (1), 12407090 (1)

    GeneTests: PTCH1
    GeneReviews: PTCH1
    Genetic Association Database (GAD): PTCH1
    Human Genome Epidemiology (HuGE) Navigator: PTCH1 (28 documents)

    Export disorders for PTCH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PTCH1 gene, integrated from 9 sources (see all 449):
    (articles sorted by number of sources associating them with PTCH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. (PubMed id 8658145)1, 2, 3, 9 Johnson R.L....Scott M.P. (1996)
    2. Expression patterns and polymorphisms of PTCH in Chinese hepatocellular carcinoma patients. (PubMed id 18538319)1, 4, 9 Fu X....Chen L. (2008)
    3. Identification of PATCHED mutations in medulloblastomas by direct sequencing. (PubMed id 10874314)1, 2, 9 Dong J.... Bale A.E. (2000)
    4. PTCH mutations in basal cell carcinomas from azathioprine-treated organ transplant recipients. (PubMed id 18854826)1, 4, 9 Harwood C.A....Karran P. (2008)
    5. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. (PubMed id 11941477)1, 2, 9 Ming J.E.... Muenke M. (2002)
    6. [Studies on keratocystic odontogenic tumors] (PubMed id 19221557)1, 4, 9 Li T.J....Xu L.L. (2009)
    7. Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)1, 4, 9 Weedon M.N....Frayling T.M. (2008)
    8. Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons. (PubMed id 15780749)1, 2, 9 Nagao K....Miyashita T. (2005)
    9. Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. (PubMed id 15459969)1, 2, 9 Savino M.... Savoia A. (2004)
    10. PTCH mutations in squamous cell carcinoma of the skin. (PubMed id 11286632)1, 2, 9 Ping X.L.... Tsou H.C. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5727 HGNC: 9585 AceView: PTCH Ensembl:ENSG00000185920 euGenes: HUgn5727
    ECgene: PTCH1 Kegg: 5727 H-InvDB: PTCH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PTCH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTCH1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTCH1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PTCH1 gene:
    Search GeneIP for patents involving PTCH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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