PTH
entrez
5741
canonical
uniprot
P01270
canonical
ensembl
ENSG00000152266
resolver
ensp
ENSP00000282091
resolver
ensp
ENSP00000433208
resolver
enst
ENST00000282091
resolver
enst
ENST00000529816
resolver
genesymbol
PTH
resolver
hgnc
HGNC:9606
resolver
uniprot
Q4VB48
resolver
uniprot
Q9UD38
resolver
uniprot_entry
PTHY_HUMAN
resolver
uniprot_sec
Q4VB48
resolver
uniprot_sec
Q9UD38
resolver
amino_acid_sequence
MIPAKDMAKVMIVMLAICFLTKSDGKSVKKRSVSEIQLMHNLGKHLNSMERVEWLRKKLQDVHNFVALGAPLAPRDAGSQRPRKKEDNVLVESHEKSLGEADKADVNVLTKAKSQ
uniprot
proteins
disease_involvement
DISEASE: Hypoparathyroidism, familial isolated, 1 (FIH1) [MIM:146200]: A form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps. FIH1 inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:10523031, ECO:0000269|PubMed:18056632, ECO:0000269|PubMed:2212001}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Peptide hormone secreted by parathyroid chief cells that acts as a primary endocrine regulator of extracellular calcium and phosphate homeostasis, acting primarily on bone and kidney to maintain serum calcium levels within a narrow range (PubMed:11604398, PubMed:35932760). Acts by binding and activating the G protein-coupled receptor PTH1R, engaging the receptor to activate G(s)-mediated cAMP/PKA signaling and G(q)-mediated PLC/PKC signaling (PubMed:18375760, PubMed:35932760). In bone, acts indirectly on osteoclasts by binding PTH1R on cells of the osteoblast/osteocyte lineage, where it increases expression of TNFSF11/RANKL and decreases expression of TNFRSF11B/OPG, thereby raising the RANKL/OPG ratio and stimulating osteoclast differentiation and bone resorption (PubMed:9797718, PubMed:11454517). Stimulates also [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells (PubMed:21076856). In distal renal tubule cells, stimulates active Ca(2+) reabsorption via the adenylyl cyclase-cAMP-protein kinase A (PKA) pathway leading to the phosphorylation and activation of the calcium selective cation channel TRPV5 (PubMed:19423690). Acting on PTH1R in proximal renal tubule cells, decreases reabsorption of filtered phosphate by reducing apical abundance of SLC34A1, through a mechanism involving PTH1R-activated PKC-mediated phosphorylation of the scaffold NHERF1, causing dissociation of the NHERF1-SLC34A1 complex and subsequent clathrin-mediated endocytosis and lysosomal degradation of the cotransporter (By similarity). Activates also transcription of CYP27B1 (25-hydroxyvitamin D3 1-alpha-hydroxylase) through a cAMP/PKA/SIK2-SIK3/CRTC2 axis, thereby increasing renal synthesis of the active vitamin D metabolite 1,25-dihydroxyvitamin D(3) (By similarity). {ECO:0000250|UniProtKB:Q9Z0L6, ECO:0000269|PubMed:11604398, ECO:0000269|PubMed:18375760, ECO:0000269|PubMed:21076856, ECO:0000269|PubMed:35932760}.
uniprot
proteins
mass_dalton
12861
uniprot
proteins
mutagenesis
MUTAGEN 16; /note="A->R: Abolishes processing of the precursor; when associated with variant R-18."; /evidence="ECO:0000269|PubMed:7829495"; MUTAGEN 51; /note="R->A: Reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:18375760"; MUTAGEN 54; /note="W->A: Strongly reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:18375760"; MUTAGEN 55; /note="L->A: Strongly reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:18375760"; MUTAGEN 58; /note="K->A: Reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:18375760"; MUTAGEN 59; /note="L->A: Strongly reduced affinity for PTH1R."; /evidence="ECO:0000269|PubMed:18375760
uniprot
proteins
protein_family
Parathyroid hormone family
uniprot
proteins
pubmed
10523031
uniprot
proteins
pubmed
10623601
uniprot
proteins
pubmed
10837469
uniprot
proteins
pubmed
1125201
uniprot
proteins
pubmed
11454517
uniprot
proteins
pubmed
11604398
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18056632
uniprot
proteins
pubmed
18375760
uniprot
proteins
pubmed
19423690
uniprot
proteins
pubmed
2069952
uniprot
proteins
pubmed
21076856
uniprot
proteins
pubmed
2212001
uniprot
proteins
pubmed
35932760
uniprot
proteins
pubmed
4474131
uniprot
proteins
pubmed
4509319
uniprot
proteins
pubmed
4521809
uniprot
proteins
pubmed
4721748
uniprot
proteins
pubmed
4833516
uniprot
proteins
pubmed
6220408
uniprot
proteins
pubmed
6950381
uniprot
proteins
pubmed
728431
uniprot
proteins
pubmed
7797503
uniprot
proteins
pubmed
7829495
uniprot
proteins
pubmed
8344299
uniprot
proteins
pubmed
9797718
uniprot
proteins
sequence_length
115
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:4509319, ECO:0000269|PubMed:7829495}.
uniprot
proteins