ptch1 patched 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: ptch1provided by ZNC
Official Full Name: patched 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-980526-196
See related: Ensembl:ENSDARG00000016404 AllianceGenome:ZFIN:ZDB-GENE-980526-196
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: lep; ptc1; ptc2
Summary: Predicted to enable hedgehog receptor activity. Acts upstream of or within several processes, including intramembranous ossification; negative regulation of smoothened signaling pathway; and osteoblast differentiation. Predicted to be located in membrane. Is expressed in several structures, including cranium; digestive system; epithelium; mesenchyme; and nervous system. 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, Jan 2025]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 8

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	8	NC_007119.7 (29962635..30068277)
105	previous assembly	GRCz10 (GCF_000002035.5)	8	NC_007119.6 (29953395..30059045)

Chromosome 8 - NC_007119.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A392V and R945X mutations cause orofacial clefts via impairing PTCH1 function.
Title: A392V and R945X mutations cause orofacial clefts via impairing PTCH1 function.
The Hedgehog co-receptors patched1 and patched2 are expressed in regions of the perichondrium that will form bone before the onset of ossification.
Title: Hedgehog signalling is required for perichondral osteoblast differentiation in zebrafish.
Results indicate that Patched2-dependent Hh signaling does not likely play an integral role in neuronal cell fate decisions in the zebrafish retina.
Title: Expanded progenitor populations, vitreo-retinal abnormalities, and Müller glial reactivity in the zebrafish leprechaun/patched2 retina.
The generation and characterization of the ptc1;ptc2 double mutant assigned novel and unexpected functions to the Hh signaling pathway.
Title: Genetic analysis of the two zebrafish patched homologues identifies novel roles for the hedgehog signaling pathway.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables hedgehog receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cardioblast differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intramembranous ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of muscle organ development	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
acts_upstream_of_or_within osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein patched homolog 1

Names: leprechaun; patched 2

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_001305542.1 → NP_001292471.1 protein patched homolog 1

Status: VALIDATED

Source sequence(s)

CR376747, CR382329, CR847548

UniProtKB/TrEMBL

A0A8M1P6A6, F1R8E2

Related

ENSDARP00000025418.9, ENSDART00000007640.10

Conserved Domains (2) summary

TIGR00918
Location:30 → 1220

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

pfam12349
Location:451 → 605

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