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parathyroid hormone/parathyroid hormone-related peptide receptor; PTH/PTHrP type I receptor; PTH/PTHr receptor (PTHR1, PTHR, PTH1R)
Function:
- receptor for parathyroid hormone (PTH) & for PTH-related peptide
- activity is mediated by G proteins which activate adenylyl cyclase & also a phosphatidylinositol-Ca+2- phospholipase C second messenger system
Structure:
- belongs to the G-protein coupled receptor 2 family
Compartment: cell membrane
Expression:
- expressed in most tissues
- most abundant in kidney, bone & liver
Pathology:
- defects in PTHR1 are the cause of
a) Jansen metaphyseal chondrodysplasia
b) chondrodysplasia Blomstrand type
c) enchondromatosis (possible)
d) Eiken syndrome
Interactions
molecular events
Related
Jansen-type metaphyseal chondrodysplasia
parathyroid hormone; parathormone; parathyrin (PTH)
pathyroid hormone [PTH] receptor/PTH-related peptide receptor gene
Specific
parathyroid hormone [PTH] receptor-3
General
glycoprotein
phosphoprotein
G-protein coupled receptor; serpentine receptor
Properties
SIZE: entity length = 593 aa
MW = 66 kD
COMPARTMENT: cellular membrane
MOTIF: exoplasmic domain {1-188}
MOTIF: signal sequence {1-26}
cysteine residue {C48}
MODIFICATION: cysteine residue {C117}
cysteine residue {C108}
MODIFICATION: cysteine residue {C148}
cysteine residue {C117}
MODIFICATION: cysteine residue {C48}
cysteine residue {C131}
MODIFICATION: cysteine residue {C170}
cysteine residue {C148}
MODIFICATION: cysteine residue {C108}
N-glycosylation site {N151}
N-glycosylation site {N161}
N-glycosylation site {N166}
cysteine residue {C170}
MODIFICATION: cysteine residue {C131}
N-glycosylation site {N176}
transmembrane domain {189-212}
cytoplasmic loop {213-219}
transmembrane domain {220-239}
exoplasmic loop {240-282}
transmembrane domain {283-306}
cytoplasmic loop {307-320}
transmembrane domain {321-342}
exoplasmic loop {343-361}
transmembrane domain {362-382}
cytoplasmic loop {383-409}
transmembrane domain {410-428}
exoplasmic loop {429-440}
transmembrane domain {441-463}
cytoplasmic domain {464-593}
Database Correlations
OMIM correlations
MORBIDMAP 168468
UniProt Q03431
PFAM correlations
Entrez Gene 5745
Kegg hsa:5745
References
- UniProt :accession Q03431
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PTHR1
- Dunlay R, Hruska K.
PTH receptor coupling to phospholipase C is an alternate
pathway of signal transduction in bone and kidney.
Am J Physiol. 1990 Feb;258(2 Pt 2):F223-31. Review.
PMID: 2155534
- Schipani E et al
A constitutively active mutant PTH-PTHrP receptor in
Jansen-type metaphyseal chondrodysplasia.
Science. 1995 Apr 7;268(5207):98-100.
PMID: 7701349