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    Ptch1 patched 1 [ Mus musculus (house mouse) ]

    Gene ID: 19206, updated on 17-Dec-2024

    Summary

    Official Symbol
    Ptch1provided by MGI
    Official Full Name
    patched 1provided by MGI
    Primary source
    MGI:MGI:105373
    See related
    Ensembl:ENSMUSG00000021466 AllianceGenome:MGI:105373
    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
    Ptc; mes; wig; Ptc1; Ptch; A230106A15Rik
    Summary
    Enables cyclin binding activity; heparin binding activity; and patched binding activity. Involved in several processes, including cellular response to cholesterol; chordate embryonic development; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including chordate embryonic development; epithelial tube morphogenesis; and limb morphogenesis. Located in cilium; midbody; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and limb. Used to study basal cell carcinoma; medulloblastoma; and nevoid basal cell carcinoma syndrome. Human ortholog(s) of this gene implicated in carcinoma (multiple); holoprosencephaly (multiple); nevoid basal cell carcinoma syndrome (multiple); and stomach cancer. Orthologous to human PTCH1 (patched 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 23.7), limb E14.5 (RPKM 16.2) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Ptch1 in Genome Data Viewer
    Location:
    13 B3; 13 32.8 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 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)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene aminopeptidase O Neighboring gene microRNA 3074-1 Neighboring gene STARR-positive B cell enhancer mm9_chr13:63433953-63434254 Neighboring gene microRNA 24-1 Neighboring gene STARR-seq mESC enhancer starr_34797 Neighboring gene Fanconi anemia, complementation group C Neighboring gene STARR-seq mESC enhancer starr_34799 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:63532981-63533164 Neighboring gene STARR-seq mESC enhancer starr_34801 Neighboring gene STARR-seq mESC enhancer starr_34802 Neighboring gene Ptch1 Hedgehog-responsive enhancers Neighboring gene STARR-seq mESC enhancer starr_34806 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)
    • Chemically induced (ENU) (3)  1 citation
    • Endonuclease-mediated (3) 
    • Spontaneous (1) 
    • Targeted (15)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cholesterol binding  
    enables cholesterol binding PubMed 
    enables cyclin binding PubMed 
    enables cyclin binding  
    enables hedgehog family protein binding  
    enables hedgehog family protein binding  
    enables hedgehog family protein binding  
    enables hedgehog receptor activity  
    enables hedgehog receptor activity PubMed 
    enables heparin binding PubMed 
    enables patched binding PubMed 
    enables protein binding PubMed 
    enables protein-containing complex binding PubMed 
    enables smoothened binding  
    enables smoothened binding  
    enables smoothened binding  
    enables zinc ion binding PubMed 
    Items 1 - 25 of 82
    Process Evidence Code Pubs
    acts_upstream_of_or_within animal organ morphogenesis PubMed 
    involved_in brain development PubMed 
    acts_upstream_of_or_within branching involved in ureteric bud morphogenesis PubMed 
    acts_upstream_of_or_within cell differentiation involved in kidney development PubMed 
    acts_upstream_of_or_within cell fate determination PubMed 
    acts_upstream_of_or_within cell proliferation involved in metanephros development PubMed 
    involved_in cellular response to cholesterol PubMed 
    involved_in cellular response to cholesterol  
    involved_in commissural neuron axon guidance  
    involved_in commissural neuron axon guidance  
    acts_upstream_of_or_within dorsal/ventral neural tube patterning PubMed 
    acts_upstream_of_or_within dorsal/ventral pattern formation PubMed 
    acts_upstream_of_or_within embryonic limb morphogenesis PubMed 
    acts_upstream_of_or_within embryonic limb morphogenesis PubMed 
    acts_upstream_of_or_within embryonic organ development PubMed 
    acts_upstream_of_or_within epidermal cell fate specification PubMed 
    acts_upstream_of_or_within epidermis development PubMed 
    acts_upstream_of epithelial cell proliferation PubMed 
    acts_upstream_of_or_within glucose homeostasis PubMed 
    acts_upstream_of_or_within heart morphogenesis PubMed 
    acts_upstream_of_or_within hindlimb morphogenesis PubMed 
    acts_upstream_of_or_within in utero embryonic development PubMed 
    acts_upstream_of keratinocyte proliferation PubMed 
    acts_upstream_of_or_within keratinocyte proliferation PubMed 
    involved_in limb morphogenesis  
    involved_in liver regeneration  
    acts_upstream_of_or_within mammary gland development PubMed 
    acts_upstream_of_or_within mammary gland duct morphogenesis PubMed 
    acts_upstream_of_or_within mammary gland epithelial cell differentiation PubMed 
    involved_in metanephric collecting duct development  
    involved_in negative regulation of DNA-binding transcription factor activity  
    involved_in negative regulation of DNA-templated transcription PubMed 
    involved_in negative regulation of cell division PubMed 
    acts_upstream_of_or_within negative regulation of cell population proliferation PubMed 
    involved_in negative regulation of cell population proliferation PubMed 
    acts_upstream_of_or_within negative regulation of epithelial cell proliferation PubMed 
    acts_upstream_of_or_within negative regulation of keratinocyte proliferation PubMed 
    acts_upstream_of_or_within negative regulation of multicellular organism growth PubMed 
    involved_in negative regulation of osteoblast differentiation  
    involved_in negative regulation of osteoblast differentiation  
    involved_in negative regulation of smoothened signaling pathway  
    acts_upstream_of_or_within negative regulation of smoothened signaling pathway PubMed 
    acts_upstream_of_or_within negative regulation of smoothened signaling pathway PubMed 
    involved_in negative regulation of smoothened signaling pathway PubMed 
    acts_upstream_of_or_within negative regulation of smoothened signaling pathway PubMed 
    involved_in negative regulation of smoothened signaling pathway PubMed 
    acts_upstream_of_or_within negative regulation of stem cell proliferation PubMed 
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in neural plate axis specification PubMed 
    acts_upstream_of_or_within neural tube closure PubMed 
    involved_in neural tube formation PubMed 
    involved_in neural tube patterning  
    acts_upstream_of_or_within pattern specification process PubMed 
    involved_in pharyngeal system development  
    involved_in pharyngeal system development  
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of cholesterol efflux  
    involved_in positive regulation of cholesterol efflux  
    acts_upstream_of_or_within positive regulation of epidermal cell differentiation PubMed 
    involved_in prostate gland development  
    involved_in protein localization to plasma membrane  
    involved_in protein localization to plasma membrane  
    acts_upstream_of_or_within protein processing PubMed 
    acts_upstream_of_or_within regulation of cell population proliferation PubMed 
    acts_upstream_of_or_within regulation of growth PubMed 
    acts_upstream_of_or_within regulation of mitotic cell cycle PubMed 
    involved_in regulation of protein localization PubMed 
    acts_upstream_of_or_within regulation of protein localization PubMed 
    acts_upstream_of_or_within response to chlorate PubMed 
    involved_in response to estradiol  
    involved_in response to mechanical stimulus  
    involved_in response to retinoic acid  
    involved_in response to xenobiotic stimulus  
    involved_in signal transduction PubMed 
    involved_in smooth muscle tissue development  
    involved_in somite development PubMed 
    involved_in somite development  
    involved_in spermatid development  
    acts_upstream_of_or_within spinal cord motor neuron differentiation PubMed 
    acts_upstream_of stem cell proliferation PubMed 
    acts_upstream_of_or_within stem cell proliferation PubMed 
    Items 1 - 25 of 82
    Items 1 - 20 of 21
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    colocalizes_with Golgi apparatus  
    located_in apical part of cell  
    located_in apical part of cell  
    located_in axonal growth cone  
    located_in axonal growth cone  
    located_in caveola  
    located_in caveola  
    located_in cilium PubMed 
    located_in dendritic growth cone  
    located_in dendritic growth cone  
    located_in extracellular region PubMed 
    located_in intracellular membrane-bounded organelle  
    located_in midbody PubMed 
    located_in perinuclear region of cytoplasm  
    located_in perinuclear region of cytoplasm  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in postsynaptic membrane  
    Items 1 - 20 of 21

    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
      A0A0A6YWC4
      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
      A0A0A6YWC4
      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: GCF_000001635.27-RS_2024_02

    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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