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    Ptch1 patched 1 [ Mus musculus (house mouse) ]

    Gene ID: 19206, updated on 20-Jul-2021

    Summary

    Official Symbol
    Ptch1provided by MGI
    Official Full Name
    patched 1provided by MGI
    Primary source
    MGI:MGI:105373
    See related
    Ensembl:ENSMUSG00000021466
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pt; wi; Ptc; mes; wig; Ptc1; Ptch; A230106A15Rik
    Expression
    Ubiquitous expression in ovary adult (RPKM 23.7), limb E14.5 (RPKM 16.2) and 28 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:
    13 B3; 13 32.8 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (63656142..63721274, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (63508328..63573460, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 13 NC_000079.5 (63612841..63666828, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene aminopeptidase O Neighboring gene microRNA 3074-1 Neighboring gene microRNA 24-1 Neighboring gene Fanconi anemia, complementation group C Neighboring gene Ptch1 Hedgehog-responsive enhancers Neighboring gene VISTA enhancer mm702 Neighboring gene predicted gene, 30655 Neighboring gene predicted gene, 30709

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    protein patched homolog 1
    Names
    Ptch1 protein +12b
    mesenchymal dysplasia
    patched homolog 1

    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.

    mRNA and Protein(s)

    1. NM_001328514.1NP_001315443.1  protein patched homolog 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AB164615, AK147626, BU700582, CN535675
      UniProtKB/TrEMBL
      Q5R252
      Related
      ENSMUSP00000141489.2, ENSMUST00000192155.6
      Conserved Domains (2) summary
      TIGR00918
      Location:21140
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam12349
      Location:396550
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    2. NM_008957.3NP_032983.1  protein patched homolog 1 isoform a

      See identical proteins and their annotated locations for NP_032983.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AB164615, AK138524, AK147626, AK163736, BF464755, BU700582, CB520013, CD545333, CF165613, CK636036, CK639136, CN531162, CO433508
      Consensus CDS
      CCDS26592.1
      UniProtKB/Swiss-Prot
      Q61115
      UniProtKB/TrEMBL
      Q3TQB0, Q3UUD4, Q5R252
      Related
      ENSMUSP00000021921.6, ENSMUST00000021921.11
      Conserved Domains (2) summary
      TIGR00918
      Location:291192
      2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
      pfam12349
      Location:448602
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      63656142..63721274 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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