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PTH parathyroid hormone [ Homo sapiens (human) ]

Gene ID: 5741, updated on 7-Dec-2018

Summary

Official Symbol
PTHprovided by HGNC
Official Full Name
parathyroid hormoneprovided by HGNC
Primary source
HGNC:HGNC:9606
See related
Ensembl:ENSG00000152266 MIM:168450
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
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See PTH in Genome Data Viewer
Location:
11p15.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (13492045..13496175, 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 aryl hydrocarbon receptor nuclear translocator like Neighboring gene RNA, 7SK small nuclear pseudogene 151 Neighboring gene BTB domain containing 10 Neighboring gene PTH promoter region Neighboring gene PTH negative calcium response element (nCARE) region Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 36

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypoparathyroidism familial isolated
MedGen: C1832648 OMIM: 146200 GeneReviews: Not available
Compare labs

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
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • 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...
  • 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 Metabolism, organism-specific biosystem (from WikiPathways)
    Vitamin D Metabolism, 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
PubMed 
hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hormone activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
parathyroid hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
peptide hormone receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein N-terminus binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor ligand activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
type 1 parathyroid hormone receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
activation of phospholipase C activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
bone mineralization IEA
Inferred from Electronic Annotation
more info
 
bone resorption NAS
Non-traceable Author Statement
more info
PubMed 
cAMP metabolic process TAS
Traceable Author Statement
more info
PubMed 
calcium ion transport IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular macromolecule biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
hormone-mediated apoptotic signaling pathway TAS
Traceable Author Statement
more info
PubMed 
magnesium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process in bone marrow IEA
Inferred from Electronic Annotation
more info
 
negative regulation of bone mineralization involved in bone maturation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
phosphate ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bone mineralization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation in bone marrow IEA
Inferred from Electronic Annotation
more info
 
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 inositol phosphate biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of osteoclast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
response to cadmium ion 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 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 

General protein information

Preferred Names
parathyroid hormone
Names
parathormone
parathyrin
parathyroid hormone 1
prepro-PTH
preproparathyroid hormone

NCBI Reference Sequences (RefSeq)

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..8976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000315.4NP_000306.1  parathyroid hormone isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000306.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AA889450, BX106232
    Consensus CDS
    CCDS7812.1
    UniProtKB/Swiss-Prot
    P01270
    Related
    ENSP00000282091.1, ENST00000282091.5
    Conserved Domains (1) summary
    smart00087
    Location:3065
    PTH; Parathyroid hormone
  2. NM_001316352.1NP_001303281.1  parathyroid hormone isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in the use of an alternate start codon compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus compared to isoform 1. It is not known whether this isoform (2) is proteolytically processed in the same manner as isoform 1.
    Source sequence(s)
    AA889450, BG188276, W52796
    Conserved Domains (1) summary
    smart00087
    Location:6297
    PTH; Parathyroid hormone

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    13492045..13496175 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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