PTH parathyroid hormone [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

New insights into the vitamin D/PTH axis in endocrine-driven metabolic bone diseases.
Title: New insights into the vitamin D/PTH axis in endocrine-driven metabolic bone diseases.
The Relationship Between Atrial Fibrillation and Parathyroid Hormone in Heart Failure Outpatients.
Title: The Relationship Between Atrial Fibrillation and Parathyroid Hormone in Heart Failure Outpatients.
[MiR-301a-5p modulates parathyroid hormone secretion in secondary hyperparathyroidism possibly by regulating calcium-sensing receptor].
Title: [MiR-301a-5p modulates parathyroid hormone secretion in secondary hyperparathyroidism possibly by regulating calcium-sensing receptor].
Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein in Protein-Energy Malnutrition.
Title: Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein in Protein-Energy Malnutrition.
Roles of PTH and FGF23 in kidney failure: a focus on nonclassical effects.
Title: Roles of PTH and FGF23 in kidney failure: a focus on nonclassical effects.
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.
Title: Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.
Conditional Loss of Nmp4 in Mesenchymal Stem Progenitor Cells Enhances PTH-Induced Bone Formation.
Title: Conditional Loss of Nmp4 in Mesenchymal Stem Progenitor Cells Enhances PTH-Induced Bone Formation.
Vitamin D, parathyroid hormone, glucose metabolism and incident diabetes in the multiethnic study of atherosclerosis.
Title: Vitamin D, parathyroid hormone, glucose metabolism and incident diabetes in the multiethnic study of atherosclerosis.
The parathyroid glands and parathyroid hormone: Insights from PTH gene mutations.
Title: The parathyroid glands and parathyroid hormone: Insights from PTH gene mutations.
Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.
Title: Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.

Submit: New GeneRIF Correction See all GeneRIFs (265)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-V00597 (e-PCR)
- UniSTS:23632

PTH (e-PCR)
- UniSTS:504152

GDB:197901 (e-PCR)
- UniSTS:155994

GDB:186670 (e-PCR)
- UniSTS:155499

G60260 (e-PCR)
- UniSTS:137366

G44342 (e-PCR)
- UniSTS:95129

NoName (e-PCR)
- UniSTS:483791

PTH (e-PCR)
- UniSTS:57854

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables hormone activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables parathyroid hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide hormone receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables peptide hormone receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables type 1 parathyroid hormone receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in Rho protein signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in bone resorption	NAS Non-traceable Author Statement more info	PubMed
involved_in cAMP metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
involved_in hormone-mediated apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within macromolecule biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in magnesium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process in bone marrow cell	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of bone mineralization involved in bone maturation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphate ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of D-glucose import	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of bone mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell proliferation in bone marrow	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glycogen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inositol phosphate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of osteoclast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IDA Inferred from Direct Assay more info
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to fibroblast growth factor	IEA Inferred from Electronic Annotation more info
involved_in response to lead ion	IEA Inferred from Electronic Annotation more info
involved_in response to parathyroid hormone	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin D	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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

NG_008962.1 RefSeqGene

Range

5024..8967

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000315.4 → NP_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:30 → 65

PTH; Parathyroid hormone
NM_001316352.2 → NP_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:62 → 97

PTH; Parathyroid hormone