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    PTH parathyroid hormone [ Homo sapiens (human) ]

    Gene ID: 5741, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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: 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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)