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Ptch1 patched 1 [ Mus musculus (house mouse) ]

Gene ID: 19206, updated on 14-Oct-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
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
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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
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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