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PTCH1 Gene

protein-coding   GIFtS: 67
GCID: GC09M098205

Patched 1

(Previous names: patched (Drosophila) homolog, patched homolog (Drosophila),...)
(Previous symbols: NBCCS, PTCH)
  See PTCH1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 monosomy 9q22.3, and basal cell carcinoma, multiple. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for PTCH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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. Interacts with IHH
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: 

  • Glycosylation is necessary for SHH binding (By similarity)1
  • Glycosylation2 at Asn141, Asn312, Asn349, Asn414, Asn875, Asn1000
  • Modification sites at PhosphoSitePlus

  • See PTCH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    PTCH1 Human Recombinant Protein Products:

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    OriGene Purified Protein for PTCH1
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    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

     
    Search eBioscience for Proteins for PTCH1 

     
    antibodies-online proteins for PTCH1 (6 products) 

     
    antibodies-online peptides for PTCH1

    PTCH1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PTCH1
    R&D Systems Antibodies for PTCH1 (Patched 1/PTCH)
    Cell Signaling Technology (CST) Antibodies for PTCH1 
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    OriGene Custom Antibody Services for PTCH1
    Novus Biologicals PTCH1 Antibodies
    Abcam antibodies for PTCH1 (Q86XG7, Q13635)
    Cloud-Clone Corp. Antibodies for PTCH1
    ThermoFisher Antibodies for PTCH1
    antibodies-online antibodies for PTCH1 (91 products) 

    PTCH1 Assay Products:

    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
    Search eBioscience for ELISAs for PTCH1 
    antibodies-online kits for PTCH1 (3 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with PTCH1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with PTCH1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PTCH1:
     Proliferating cells 

         Selected MGI mutant phenotypes (inferred from 14 alleles(MGI details for Ptch1) (see all 25):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system  immune system 
     integument  limbs/digits/tail  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with PTCH1           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for PTCH1

    miRNA
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    miRTarBase miRNAs that target PTCH1:
    hsa-mir-212-3p (MIRT006293)

    Block miRNA regulation of human, mouse, rat PTCH1 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for PTCH1
    Predesigned siRNA for gene silencing in human, mouse, rat PTCH1

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for PTCH1 (see all 41)
    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)
    Sino Biological Human cDNA Clone for PTCH1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTCH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTCH1
    Addgene plasmids for PTCH1 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PTCH1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTCH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PTC1_HUMAN, Q13635: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton2
    extracellular2
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794colocalizes with Golgi apparatus IDA11278759
    GO:0005886plasma membrane IDA11278759
    GO:0005901caveola IDA11278759
    GO:0014069postsynaptic density IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with PTCH1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PTCH1 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    Hedgehog Pathway0.32
    Hedgehog Signaling Pathway0.32
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    3Basal cell carcinoma
    Basal cell carcinoma0.43
    Hedgehog signaling pathway0.43
    4Peptide ligand-binding receptors
    GPCR ligand binding0.71
    5ADP signalling through P2Y purinoceptor 12
    Class B/2 (Secretin family receptors)0.36


    Find genes that share SuperPaths with PTCH1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PTCH1
        Activation of PKA through GPCR
    PKA Signaling
    Molecular Mechanisms of Cancer
    CRHR Pathway
    Hedgehog Signaling in Mammals

    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
    Signaling events mediated by the Hedgehog family
    Glypican 3 network
    Hedgehog signaling events mediated by Gli proteins


    1 Reactome Pathway for PTCH1
        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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for PTCH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PTCH1 (Q136353 ENSP000003323534) via UniProtKB, MINT, STRING, and/or I2D (see all 113)
    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): Selected biological process terms (see all 52):    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--

    Find genes that share ontologies with PTCH1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with PTCH1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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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    Selected qRT-PCR 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
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    GenScript: all cDNA clones in your preferred vector (see all 7): PTCH1 (NM_000264)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTCH1
    Addgene plasmids for PTCH1 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PTCH1
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      Search 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 

    Selected AceView cDNA sequences (see all 80):

    BE263745 BX485755 AU134292 BI792861 BI793127 AI141170 U59464 AW304946 
    AA918336 AU129081 AW119068 BC043542 AK130256 AL046751 AI057157 AA825228 
    AI494319 AI494442 BI850526 BM720425 AK124593 AI733023 AL044174 AU125183 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PTCH1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 26) fully expand
     
     Somite (Muscoskeletal System)    fully expand to see all 25 entries
             Sacral Somite Cells Sacral Somite
             mesenchyme/trunk mesenchyme/paraxial mesenchyme   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 16 entries
             Myoblasts Cervical Epaxial Myotome
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             Sacral Sclerotome Cells Sacral Mesenchymal Sclerotome
             Rib
             Bone marrow-derived mesenchymal stem cells (family)
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             Sacral Sclerotome Cells Sacral Mesenchymal Sclerotome
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 5 entries
             Cranial Neural Crest Cells Branchial Arch 1
             Branchial Arch 1
    PTCH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTCH1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PTCH1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptch11 , 5 patched homolog 11, 5 89.12(n)1
    96.44(a)1
      13 (32.80 cM)5
    192061  NM_008957.21  NP_032983.11 
     635115335 
    chicken
    (Gallus gallus)
    Aves PTCH11 patched 1 79.26(n)
    89.77(a)
      395806  NM_204960.1  NP_990291.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTCH16
    patched 1
    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 53.01(n)
    43.96(a)
      35851  NM_078937.3  NP_523661.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ptc-21 ptc-2 48.83(n)
    41.04(a)
      191745  NM_062817.2  NP_495218.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NCR16
    Vacuolar membrane protein that transits through th...
    17(a)
    1 → many
    XVI(544631-548143) YPL006W


    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)
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    Paralogs for PTCH1 gene
    NPC12  SCAP2  NPC1L12  PTCH22  
    2 SIMAP similar genes for PTCH1 using alignment to 8 protein entries:     PTC1_HUMAN (see all proteins):
    PTCH    PTCH2

    Find genes that share paralogs with PTCH1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PTCH1 (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
    ----------
    rs1994760921,2,,4
    CHoloprosencephaly 7 (HPE7)4 pathogenic198246010(-) GTTTCA/GGTAAC 14 S G mis10--------
    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--------
    rs289364041,2,4
    Holoprosencephaly 7 (HPE7)4--see VAR_0329542 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--------

    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 Site Specific Mutation Identification with PCR Assays for PTCH1:
    Cosmic IdAA Change
    17472p.Q417*
    14440p.Q365*
    26363p.Q816*
    17471p.M561R
    14446p.W1018*
    5 Site Specific Cancer Mutation PCR Panels 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for PTCH1 (see all 43):    
    About MalaCards
    monosomy 9q22.3    basal cell carcinoma, multiple    skin tag    9q22.3 microdeletion
    testicular thecoma    calcifying epithelial odontogenic tumor    holoprosencephaly-7    basaloid follicular hamartoma
    lobar holoprosencephaly    ptch1-related holoprosencephaly    syringocystadenoma papilliferum    spina bifida occulta
    ovarian fibroma    brooke-spiegler syndrome    heart tumor    chromosome 9q deletion
    basal cell carcinoma, somatic    holoprosencephaly, recurrent infections, and monocytosis    cerebellar liponeurocytoma    papilledema

    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

    Find genes that share disorders with PTCH1           About GenesLikeMe

    Selected 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)
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    PubMed articles for PTCH1 gene, integrated from 10 sources (see all 457):
    (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. (Science 1996)
    2. Expression patterns and polymorphisms of PTCH in Chinese hepatocellular carcinoma patients. (PubMed id 18538319)1, 4, 9 Fu X....Chen L. (Exp. Mol. Pathol. 2008)
    3. Identification of PATCHED mutations in medulloblastomas by direct sequencing. (PubMed id 10874314)1, 2, 9 Dong J.... Bale A.E. (Hum. Mutat. 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. (Br. J. Cancer 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. (Hum. Genet. 2002)
    6. [Studies on keratocystic odontogenic tumors]. (PubMed id 19221557)1, 4, 9 Li T.J....Xu L.L. (Beijing Da Xue Xue Bao 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. (Nat. Genet. 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. (Genomics 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. (Hum. Mutat. 2004)
    10. PTCH mutations in squamous cell carcinoma of the skin. (PubMed id 11286632)1, 2, 9 Ping X.L.... Tsou H.C. (J. Invest. Dermatol. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5727 HGNC: 9585 AceView: PTCH Ensembl:ENSG00000185920 euGenes: HUgn5727
    ECgene: PTCH1 Kegg: 5727 H-InvDB: PTCH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=PTCH1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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