PTH1R

Chr 3p21.31

parathyroid hormone 1 receptor

MANE:: ENST00000449590.6

OMIM: 168468 ↗NCBI: 5745 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PTH1R · Q03431

v62025-08-01

Predicted Aligned Error matrix for PTH1R — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.9/ 100

Confident

593 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)23%
Low(50–70)11%
Very low(< 50)30%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta

Disease associations (Open Targets)

metaphyseal chondrodysplasia, Jansen type
0.77
chondrodysplasia Blomstrand type
0.75
primary failure of tooth eruption
0.74
Eiken syndrome
0.71
Blomstrand lethal chondrodysplasia
0.67
osteoporosis
0.61
hypoparathyroidism
0.58
postmenopausal osteoporosis
0.56
bone fracture
0.54
Abnormality of the skeletal system
0.51

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Parathyroid hormone/parathyroid hormone-related peptide receptor

G protein-coupled receptor for parathyroid hormone (PTH) and for parathyroid hormone-related peptide (PTHLH) (PubMed:10913300, PubMed:18375760, PubMed:19674967, PubMed:27160269, PubMed:30975883, PubMed:35932760, PubMed:8397094). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (cAMP) (PubMed:30975883, PubMed:35932760). PTH1R is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity (PubMed:20172855, PubMed:30975883, PubMed:35932760). PTHLH dissociates from PTH1R more rapidly than PTH; as consequence, the cAMP response induced by PTHLH decays faster than the response induced by PTH (PubMed:35932760)