PTH: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

PTH

Aliases

PTH1

Entrez Gene ID

5741

Gene Name

Parathyroid hormone

Chromosomal Location

11p15.3

HGNC ID

HGNC:9606

Summary

This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

RefSeq DNA

NG_008962.1

RefSeq mRNA

NM_000315.4, NM_001316352.1

e!Ensembl

Gene	ENSG00000152266
Transcript	ENST00000282091, ENST00000529816
Protein	ENSP00000282091, ENSP00000433208

Gene Ontology (GO)

Show/Hide all(28 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IDA	17696759
GO:0001501	Biological process	Skeletal system development	TAS	10913913
GO:0007189	Biological process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	90087
GO:0007189	Biological process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	11604398
GO:0007202	Biological process	Activation of phospholipase C activity	IMP	11604398
GO:0007267	Biological process	Cell-cell signaling	IBA	21873635
GO:0008628	Biological process	Hormone-mediated apoptotic signaling pathway	TAS	10913913
GO:0010468	Biological process	Regulation of gene expression	IDA	90087
GO:0030501	Biological process	Positive regulation of bone mineralization	IDA	17696759
GO:0034645	Biological process	Cellular macromolecule biosynthetic process	IDA	19723499
GO:0045453	Biological process	Bone resorption	NAS	15080150
GO:0045725	Biological process	Positive regulation of glycogen biosynthetic process	IDA	21076856
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	19723499
GO:0046058	Biological process	CAMP metabolic process	TAS	9927325
GO:0046326	Biological process	Positive regulation of glucose import	IDA	21076856
GO:0060732	Biological process	Positive regulation of inositol phosphate biosynthetic process	IMP	11604398
GO:0005576	Cellular component	Extracellular region	NAS	14718574
GO:0005615	Cellular component	Extracellular space	IBA	21873635
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IMP	17696759
GO:0005179	Molecular function	Hormone activity	IBA	21873635
GO:0005179	Molecular function	Hormone activity	IMP	11604398
GO:0005515	Molecular function	Protein binding	IPI	19674967
GO:0031856	Molecular function	Parathyroid hormone receptor binding	IBA	21873635
GO:0031857	Molecular function	Type 1 parathyroid hormone receptor binding	IMP	11604398
GO:0047485	Molecular function	Protein N-terminus binding	IMP	11604398
GO:0048018	Molecular function	Receptor ligand activity	IMP	11604398
GO:0051428	Molecular function	Peptide hormone receptor binding	IDA	19674967
GO:0051428	Molecular function	Peptide hormone receptor binding	IMP	11604398

Protein Information

Protein Name

Parathyroid hormone, parathormone, parathyrin, parathyroid hormone 1, prepro-PTH, preproparathyroid hormone

Function

PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells

Refseq Proteins

NP_000306.1, NP_001303281.1

UniProt

P01270

PDB

1ET2, 3C4M, 1BWX, 1ET1, 1FVY, 1HPH, 1HPY, 1HTH, 1ZWA, 1ZWB, 1ZWD, 1ZWE, 1ZWF, 1ZWG, 2L1X

Pfam

Pfam Accession	Pfam ID
PF01279	Parathyroid