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PTH parathyroid hormone [ Homo sapiens (human) ]

Gene ID: 5741, updated on 4-Jan-2025

Summary

Official Symbol
PTHprovided by HGNC
Official Full Name
parathyroid hormoneprovided by HGNC
Primary source
HGNC:HGNC:9606
See related
Ensembl:ENSG00000152266 MIM:168450; AllianceGenome:HGNC:9606
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
FIH1; 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
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Genomic context

See PTH in Genome Data Viewer
Location:
11p15.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (13492054..13496181, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (13584795..13588918, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (13513601..13517728, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene basic helix-loop-helix ARNT like 1 Neighboring gene uncharacterized LOC124902636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:13379341-13379905 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:13385691-13386451 Neighboring gene BTB domain containing 10 Neighboring gene uncharacterized LOC124902846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4465 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:13493470-13494035 Neighboring gene PTH promoter region Neighboring gene PTH negative calcium response element (nCARE) region Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:13581490-13581990 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 36 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4467 Neighboring gene ribosomal protein L39 pseudogene 26 Neighboring gene fatty acyl-CoA reductase 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypoparathyroidism, familial isolated 1
MedGen: C5241444 OMIM: 146200 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hormone activity  
enables hormone activity PubMed 
enables parathyroid hormone receptor binding  
enables peptide hormone receptor binding PubMed 
enables peptide hormone receptor binding PubMed 
enables protein binding PubMed 
enables protein binding PubMed 
enables receptor ligand activity PubMed 
enables type 1 parathyroid hormone receptor binding PubMed 
Items 1 - 25 of 37
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway PubMed 
involved_in Rho protein signal transduction  
acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway  
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway PubMed 
involved_in bone mineralization  
involved_in bone resorption PubMed 
involved_in cAMP metabolic process PubMed 
involved_in cell-cell signaling  
involved_in homeostasis of number of cells within a tissue  
involved_in hormone-mediated apoptotic signaling pathway PubMed 
involved_in intracellular calcium ion homeostasis  
acts_upstream_of_or_within macromolecule biosynthetic process PubMed 
involved_in magnesium ion homeostasis  
involved_in negative regulation of apoptotic process in bone marrow cell  
involved_in negative regulation of bone mineralization involved in bone maturation  
involved_in negative regulation of chondrocyte differentiation  
involved_in negative regulation of gene expression PubMed 
involved_in phosphate ion homeostasis  
involved_in positive regulation of D-glucose import PubMed 
involved_in positive regulation of bone mineralization PubMed 
involved_in positive regulation of cell proliferation in bone marrow  
involved_in positive regulation of gene expression  
involved_in positive regulation of glycogen biosynthetic process PubMed 
involved_in positive regulation of inositol phosphate biosynthetic process PubMed 
involved_in positive regulation of osteoclast proliferation  
involved_in positive regulation of signal transduction  
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
acts_upstream_of_or_within regulation of gene expression  
involved_in response to cadmium ion  
involved_in response to ethanol  
involved_in response to fibroblast growth factor  
involved_in response to lead ion  
involved_in response to parathyroid hormone  
involved_in response to vitamin D  
involved_in response to xenobiotic stimulus  
involved_in skeletal system development PubMed 
involved_in transcription by RNA polymerase II  
Items 1 - 25 of 37
Component Evidence Code Pubs
located_in extracellular region PubMed 
located_in extracellular region  
is_active_in extracellular space  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    5024..8967
    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, Q4VB48, Q9UD38
    Related
    ENSP00000282091.1, ENST00000282091.6
    Conserved Domains (1) summary
    smart00087
    Location:3065
    PTH; Parathyroid hormone
  2. NM_001316352.2NP_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, AC021269, BG188276
    Conserved Domains (1) summary
    smart00087
    Location:6297
    PTH; Parathyroid hormone

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    13492054..13496181 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    13584795..13588918 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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