Ptch1 patched 1 [Mus musculus (house mouse)] - Gene

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 chordate embryonic development; negative regulation of smoothened signaling pathway; and regulation of transcription, DNA-templated. Acts upstream of or within several processes, including animal organ development; chordate embryonic development; and limb morphogenesis. Located in cilium; midbody; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; limb; and urinary system. Used to study basal cell carcinoma; medulloblastoma; and nevoid basal cell carcinoma syndrome. Human ortholog(s) of this gene implicated in basal cell carcinoma; holoprosencephaly; holoprosencephaly 7; and nevoid basal cell carcinoma syndrome. Orthologous to human PTCH1 (patched 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary adult (RPKM 23.7), limb E14.5 (RPKM 16.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Methyltransferase-like 3 facilitates the stem cell properties of esophageal cancer by upregulating patched homolog 1 via N6-methyladenosine methylation.
Title: Methyltransferase-like 3 facilitates the stem cell properties of esophageal cancer by upregulating patched homolog 1 via N6-methyladenosine methylation.
Patched 1 and C-C Motif Chemokine Receptor 6 Distinguish Heterogeneous T Helper 17 Subsets in Colitic Lamina Propria.
Title: Patched 1 and C-C Motif Chemokine Receptor 6 Distinguish Heterogeneous T Helper 17 Subsets in Colitic Lamina Propria.
Hesperetin derivative decreases CCl4 -induced hepatic fibrosis by Ptch1-dependent mechanisms.
Title: Hesperetin derivative decreases CCl(4) -induced hepatic fibrosis by Ptch1-dependent mechanisms.
Macroautophagy supports Sonic Hedgehog signaling by promoting Patched1 degradation.
Title: Macroautophagy supports Sonic Hedgehog signaling by promoting Patched1 degradation.
Long-Term Effects of Ionizing Radiation on the Hippocampus: Linking Effects of the Sonic Hedgehog Pathway Activation with Radiation Response.
Title: Long-Term Effects of Ionizing Radiation on the Hippocampus: Linking Effects of the Sonic Hedgehog Pathway Activation with Radiation Response.
High Relative Biological Effectiveness of 2 MeV Fast Neutrons for Induction of Medulloblastoma in Ptch1+/- Mice with Radiation-specific Deletion on Chromosome 13.
Title: High Relative Biological Effectiveness of 2 MeV Fast Neutrons for Induction of Medulloblastoma in Ptch1+/- Mice with Radiation-specific Deletion on Chromosome 13.
Tbx5 inhibits hedgehog signaling in determination of digit identity.
Title: Tbx5 inhibits hedgehog signaling in determination of digit identity.
Mechanism and ultrasensitivity in Hedgehog signaling revealed by Patched1 disease mutations.
Title: Mechanism and ultrasensitivity in Hedgehog signaling revealed by Patched1 disease mutations.
Glypican-6 stimulates intestinal elongation by simultaneously regulating Hedgehog and non-canonical Wnt signaling.
Title: Glypican-6 stimulates intestinal elongation by simultaneously regulating Hedgehog and non-canonical Wnt signaling.
Heterozygous mutation of sonic hedgehog receptor (Ptch1) drives cerebellar overgrowth and sex-specifically alters hippocampal and cortical layer structure, activity, and social behavior in female mice.
Title: Heterozygous mutation of sonic hedgehog receptor (Ptch1) drives cerebellar overgrowth and sex-specifically alters hippocampal and cortical layer structure, activity, and social behavior in female mice.

Submit: New GeneRIF Correction See all GeneRIFs (122)

Variation

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Alleles

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

Spontaneous (1)
Targeted (15) 1 citation
Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ptch1 (e-PCR), detects polymorphism
- UniSTS:498439

AI323774 (e-PCR)
- UniSTS:160316

Ptch1 (e-PCR), detects polymorphism
- UniSTS:498249

UniSTS:465490 (e-PCR)
- UniSTS:465490

Ptch1 (e-PCR), detects polymorphism
- UniSTS:465490

Ptch1 (e-PCR), detects polymorphism
- UniSTS:547700

Ptch (e-PCR), detects polymorphism
- UniSTS:144287

D13Mit123 (e-PCR), detects polymorphism
- UniSTS:126950

Ptch1 (e-PCR), detects polymorphism
- UniSTS:516585

Ptch1 (e-PCR), detects polymorphism
- UniSTS:516586

Ptch1 (e-PCR), detects polymorphism
- UniSTS:547822

UniSTS:237043 (e-PCR)
- UniSTS:237043

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
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
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
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
involved_in 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 epithelial cell proliferation	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 keratinocyte proliferation	IMP Inferred from Mutant Phenotype 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 DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
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 keratinocyte 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	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of smoothened signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of smoothened signaling pathway	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within negative regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
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 DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
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 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 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
acts_upstream_of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell proliferation	IMP Inferred from Mutant Phenotype 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 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 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
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	PubMed

General protein information

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Preferred Names: protein patched homolog 1

Names: Ptch1 protein +12b; mesenchymal dysplasia; patched homolog 1

NCBI Reference Sequences (RefSeq)

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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)

NM_001328514.1 → NP_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:2 → 1140

2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family

pfam12349
Location:396 → 550

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
NM_008957.3 → NP_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:29 → 1192

2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family

pfam12349
Location:448 → 602

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation