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 integral component of membrane. Human ortholog(s) of this gene implicated in Eiken syndrome; Jansen's metaphyseal chondrodysplasia; chondrodysplasia Blomstrand type; osteochondrodysplasia; and primary failure of tooth eruption. Is expressed in several structures, including bone tissue; gill; liver; opercular flap; and pleuroperitoneal region. Orthologous to human PTH1R (parathyroid hormone 1 receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Gray et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
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, 7TM |
| Family | IPR000832 | GPCR, family 2, secretin-like |
| Family | IPR002170 | GPCR, family 2, parathyroid hormone receptor |
| Family | IPR050332 | G-protein coupled receptor 2 |
| 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, 7TM | GPCR, family 2, parathyroid hormone receptor | GPCR, family 2, secretin-like | GPCR, family 2, secretin-like, conserved site | G-protein coupled receptor 2 |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q9PVD3
|
536 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pth1r-201
(1)
|
Ensembl | 2,111 nt | ||
| mRNA |
pth1ra-202
(1)
|
Ensembl | 1,890 nt |
Interactions and Pathways
No data available
Plasmids
No data available