Gene

pth1r

ID
ZDB-GENE-991123-8
Name
parathyroid hormone 1 receptor
Symbol
pth1r Nomenclature History
Previous Names
  • pth1ra
  • pthr1
  • zPTH1R
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Exhibits parathyroid hormone receptor activity and peptide hormone binding activity. Involved in dorsal aorta development and positive regulation of inositol phosphate biosynthetic process. Predicted to localize to 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).
Genome Resources
Note
None
Expression
All Expression Data
4 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Gray et al., 2013
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pth1r Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
chondrodysplasia Blomstrand type Alliance Chondrodysplasia, Blomstrand type 215045
Eiken syndrome Alliance Eiken syndrome 600002
Jansen's metaphyseal chondrodysplasia Alliance Metaphyseal chondrodysplasia, Murk Jansen type 156400
primary failure of tooth eruption Alliance Failure of tooth eruption, primary 125350
Associated With pth1r Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017983 GPCR, family 2, secretin-like, conserved site
Domain IPR001879 GPCR, family 2, extracellular hormone receptor domain
Domain IPR017981 GPCR, family 2-like
Family IPR000832 GPCR, family 2, secretin-like
Family IPR002170 GPCR, family 2, parathyroid hormone receptor
Homologous_superfamily IPR036445 GPCR family 2, extracellular hormone receptor domain superfamily
Domain Details Per Protein
Protein Length GPCR, family 2, extracellular hormone receptor domain GPCR family 2, extracellular hormone receptor domain superfamily GPCR, family 2-like GPCR, family 2, parathyroid hormone receptor GPCR, family 2, secretin-like GPCR, family 2, secretin-like, conserved site
UniProtKB:Q9PVD3 536
UniProtKB:A2AVI7 511
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations