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    PTCH1 patched 1 [ Homo sapiens (human) ]

    Gene ID: 5727, updated on 17-Oct-2021

    Summary

    Official Symbol
    PTCH1provided by HGNC
    Official Full Name
    patched 1provided by HGNC
    Primary source
    HGNC:HGNC:9585
    See related
    Ensembl:ENSG00000185920 MIM:601309
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PTC; BCNS; PTC1; PTCH; NBCCS
    Summary
    This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
    Expression
    Broad expression in endometrium (RPKM 11.5), testis (RPKM 8.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PTCH1 in Genome Data Viewer
    Location:
    9q22.32
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (95442980..95516971, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (98205262..98279253, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376155 Neighboring gene uncharacterized LOC105376156 Neighboring gene metallothionein 1 pseudogene 1 Neighboring gene uncharacterized LOC100507346 Neighboring gene VISTA enhancer hs1258 Neighboring gene VISTA enhancer hs1417 Neighboring gene uncharacterized LOC105376157 Neighboring gene uncharacterized LOC105376158

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    GeneReviews: Not available
    Basal cell carcinoma, susceptibility to, 1
    MedGen: C2751544 OMIM: 605462 GeneReviews: Not available
    Compare labs
    Chemerin, a novel adipokine in the regulation of angiogenesis.
    GeneReviews: Not available
    Genome-wide association analysis identifies 20 loci that influence adult height.
    GeneReviews: Not available
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    GeneReviews: Not available
    Gorlin syndrome Compare labs
    Holoprosencephaly 7
    MedGen: C1835820 OMIM: 610828 GeneReviews: Holoprosencephaly Overview
    Compare labs
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    GeneReviews: Not available
    Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-07-01)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-01)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ26746, FLJ42602

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cyclin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables hedgehog family protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables hedgehog family protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables hedgehog receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables patched binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables smoothened binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables smoothened binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in brain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation involved in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell proliferation involved in metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cholesterol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to cholesterol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in commissural neuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal/ventral pattern formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic limb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermal cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland duct morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric collecting duct development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in negative regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of smoothened signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural plate axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube patterning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pharyngeal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epidermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to chlorate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smooth muscle tissue development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somite development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spinal cord motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axonal growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in caveola IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary membrane TAS
    Traceable Author Statement
    more info
     
    located_in dendritic growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007664.1 RefSeqGene

      Range
      5001..78984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_515

    mRNA and Protein(s)

    1. NM_000264.5NP_000255.2  protein patched homolog 1 isoform L

      See identical proteins and their annotated locations for NP_000255.2

      Status: REVIEWED

      Source sequence(s)
      AL161729
      Consensus CDS
      CCDS6714.1
      UniProtKB/Swiss-Prot
      Q13635
      Related
      ENSP00000332353.6, ENST00000331920.11
      Conserved Domains (2) summary
      PHA03377
      Location:12531369
      PHA03377; EBNA-3C; Provisional
      TIGR00918
      Location:431206
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    2. NM_001083602.3NP_001077071.1  protein patched homolog 1 isoform M

      Status: REVIEWED

      Source sequence(s)
      AB189436, AB209495, AI417736, BC043542, BX117041, CR744004, U59464
      Consensus CDS
      CCDS47996.1
      UniProtKB/Swiss-Prot
      Q13635
      Related
      ENSP00000410287.2, ENST00000430669.6
      Conserved Domains (3) summary
      TIGR00918
      Location:21140
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:9491095
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:396550
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    3. NM_001083603.3NP_001077072.1  protein patched homolog 1 isoform L'

      Status: REVIEWED

      Source sequence(s)
      AB189437, AB209495, AI417736, AL161729, BX117041, CR744004, U59464
      Consensus CDS
      CCDS47995.1
      UniProtKB/Swiss-Prot
      Q13635
      Related
      ENSP00000389744.2, ENST00000437951.6
      Conserved Domains (3) summary
      TIGR00918
      Location:651205
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:10141160
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:461615
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    4. NM_001083604.3NP_001077073.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for NP_001077073.1

      Status: REVIEWED

      Source sequence(s)
      AB189438, AB209495, AI417736, BX117041, CR744004, U59464
      Consensus CDS
      CCDS43851.1
      UniProtKB/Swiss-Prot
      Q13635
      Conserved Domains (3) summary
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:8641010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    5. NM_001083605.3NP_001077074.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for NP_001077074.1

      Status: REVIEWED

      Source sequence(s)
      AB189439, AB209495, AI417736, BX117041, CR744004, U59464
      Consensus CDS
      CCDS43851.1
      UniProtKB/Swiss-Prot
      Q13635
      Conserved Domains (3) summary
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:8641010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    6. NM_001083606.3NP_001077075.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for NP_001077075.1

      Status: REVIEWED

      Source sequence(s)
      AB209495, AI358880, AI417736, AL161729, BX117041, CR744004, U43148
      Consensus CDS
      CCDS43851.1
      UniProtKB/Swiss-Prot
      Q13635
      Related
      ENSP00000414823.2, ENST00000429896.6
      Conserved Domains (3) summary
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:8641010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    7. NM_001083607.3NP_001077076.1  protein patched homolog 1 isoform S

      See identical proteins and their annotated locations for NP_001077076.1

      Status: REVIEWED

      Source sequence(s)
      AB189440, AB209495, AI417736, BF195352, BX117041, CR744004, U59464
      Consensus CDS
      CCDS43851.1
      UniProtKB/Swiss-Prot
      Q13635
      Conserved Domains (3) summary
      TIGR00918
      Location:11055
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam07698
      Location:8641010
      7TM-7TMR_HD; 7TM receptor with intracellular HD hydrolase
      pfam12349
      Location:311465
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    8. NM_001354918.2NP_001341847.1  protein patched homolog 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL161729
      Conserved Domains (2) summary
      TIGR00918
      Location:431154
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      cl27975
      Location:12011317
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
    9. NM_001354919.2NP_001341848.1  protein patched homolog 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL161729, BC043542
      Consensus CDS
      CCDS87661.1
      Related
      ENSP00000449745.1, ENST00000468211.6
      Conserved Domains (1) summary
      cl25655
      Location:2183
      Patched; Patched family

    RNA

    1. NR_149061.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL161729

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      95442980..95516971 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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