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
- 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).
- 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 | Additional Resources | 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 | InterPro | 536 |
- Genome Browsers
| 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