pth1r parathyroid hormone 1 receptor [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: pth1rprovided by ZNC
Official Full Name: parathyroid hormone 1 receptorprovided by ZNC
Primary source: ZFIN:ZDB-GENE-991123-8
See related: Ensembl:ENSDARG00000020957 AllianceGenome:ZFIN:ZDB-GENE-991123-8
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: pthr1; pth1ra; zPTH1R
Summary: Enables parathyroid hormone receptor activity and peptide hormone binding activity. Acts upstream of or within G protein-coupled receptor signaling pathway; dorsal aorta development; and positive regulation of inositol phosphate biosynthetic process. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including bone tissue; gill; liver; opercular flap; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Eiken syndrome; Jansen's metaphyseal chondrodysplasia; chondrodysplasia Blomstrand type; osteochondrodysplasia; and primary failure of tooth eruption. Orthologous to human PTH1R (parathyroid hormone 1 receptor). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	2	NC_007113.7 (2290148..2451181, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	2	NC_007113.6 (1947342..2108375, complement)

Chromosome 2 - NC_007113.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of function of either PTHR1 or PTHrP in zebrafish leads to a localized aortic defect that is Notch dependent.
Title: Loss of function of parathyroid hormone receptor 1 induces Notch-dependent aortic defects during zebrafish vascular development.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables G protein-coupled peptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables parathyroid hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables parathyroid hormone receptor activity	IDA Inferred from Direct Assay more info
enables parathyroid hormone receptor activity	IEA Inferred from Electronic Annotation more info
enables peptide hormone binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide hormone binding	IDA Inferred from Direct Assay more info
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within dorsal aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of inositol phosphate biosynthetic process	IDA Inferred from Direct Assay more info
acts_upstream_of_or_within signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: parathyroid hormone/parathyroid hormone-related peptide receptor

Names: parathyroid hormone 1 receptor a; parathyroid hormone receptor 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_131357.1 → NP_571432.1 parathyroid hormone/parathyroid hormone-related peptide receptor precursor

See identical proteins and their annotated locations for NP_571432.1

Status: PROVISIONAL

Source sequence(s)

AF132084

UniProtKB/TrEMBL

B3DFY8, Q9PVD3

Related

ENSDARP00000091807.2, ENSDART00000101033.4

Conserved Domains (2) summary

pfam00002
Location:141 → 409

7tm_2; 7 transmembrane receptor (Secretin family)

pfam02793
Location:60 → 125

HRM; Hormone receptor domain