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PTH parathyroid hormone [ Homo sapiens (human) ]

Gene ID: 5741, updated on 17-Mar-2015
Official Symbol
PTHprovided by HGNC
Official Full Name
parathyroid hormoneprovided by HGNC
Primary source
HGNC:HGNC:9606
See related
Ensembl:ENSG00000152266; HPRD:01345; MIM:168450; Vega:OTTHUMG00000165785
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PTH1
Summary
The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH). [provided by RefSeq, Jul 2008]
Orthologs
See PTH in MapViewer
Location:
11p15.3-p15.1
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (13492054..13496020, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (13513601..13517567, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928110 Neighboring gene BTB (POZ) domain containing 10 Neighboring gene ret finger protein-like 4A Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 36 Neighboring gene ribosomal protein L39 pseudogene 26 Neighboring gene fatty acyl CoA reductase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Familial isolated hypoparathyroidism
MedGen: C1832648 OMIM: 146200 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study.
NHGRI GWA Catalog
  • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
    Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
  • Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD), organism-specific biosystem (from REACTOME)
    Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD), organism-specific biosystemThe precursor peptide pro-opiomelanocortin (POMC) gives rise to many peptide hormones through cleavage. The cleavage products corticotropin (ACTH) and beta-lipotropin give rise to smaller peptides th...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystem
    Endochondral Ossification
  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Metabolic disorders of biological oxidation enzymes, organism-specific biosystem (from REACTOME)
    Metabolic disorders of biological oxidation enzymes, organism-specific biosystemThe ability to process xenobiotica and many endogenous compounds is called biotransformation and is catalysed by enzymes mainly in the liver of higher organisms but also a number of other organs such...
  • Osteoblast Signaling, organism-specific biosystem (from WikiPathways)
    Osteoblast Signaling, organism-specific biosystem
    Osteoblast Signaling
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Vitamin D synthesis, organism-specific biosystem (from WikiPathways)
    Vitamin D synthesis, organism-specific biosystemPhotochemical synthesis of vitamin D3 (cholecalciferol, D3) occurs cutaneously where pro-vitamin D3 (7-dehydrocholesterol) is converted to pre-vitamin D3 (pre-D3) in response to ultraviolet B (sunlig...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
hormone activity IEA
Inferred from Electronic Annotation
more info
 
parathyroid hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
peptide hormone receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
type 1 parathyroid hormone receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
adenylate cyclase-activating G-protein coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
bone resorption IBA
Inferred from Biological aspect of Ancestor
more info
 
bone resorption NAS
Non-traceable Author Statement
more info
PubMed 
cAMP metabolic process TAS
Traceable Author Statement
more info
PubMed 
cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
cellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular macromolecule biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
hormone-mediated apoptotic signaling pathway TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of bone mineralization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cAMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of glucose import IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of glycogen biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to fibroblast growth factor IEA
Inferred from Electronic Annotation
more info
 
response to lead ion IEA
Inferred from Electronic Annotation
more info
 
response to parathyroid hormone IEA
Inferred from Electronic Annotation
more info
 
response to vitamin D IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
parathyroid hormone
Names
parathyroid hormone
parathormone
parathyrin
parathyroid hormone 1
prepro-PTH
preproparathyroid hormone

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008962.1 RefSeqGene

    Range
    5001..8967
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000315.2NP_000306.1  parathyroid hormone preproprotein

    See proteins identical to NP_000306.1

    Status: REVIEWED

    Source sequence(s)
    AA843660, BX103059, BX106232
    Consensus CDS
    CCDS7812.1
    UniProtKB/Swiss-Prot
    P01270
    Related
    ENSP00000282091, OTTHUMP00000230966, ENST00000282091, OTTHUMT00000386198
    Conserved Domains (1) summary
    pfam01279
    Location:29113
    Parathyroid; Parathyroid hormone family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    13492054..13496020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    13512571..13516537
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)