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LOC107988023 PTH promoter region [ Homo sapiens (human) ]

Gene ID: 107988023, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107988023
Gene description
PTH promoter region
Gene type
biological region
Feature type(s)
protein_bind
regulatory: enhancer, promoter, response_element
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region represents the proximal promoter of the parathyroid hormone gene. This promoter is downregulated by vitamin D through association of the vitamin D receptor, retinoid X receptor, and transcription factor 3. Binding by glial cells missing homolog 2, nuclear transcription factor Y, and Sp1/3 transcription factor induce activity of this region. [provided by RefSeq, Jun 2016]
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Genomic context

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See LOC107988023 in Genome Data Viewer
Location:
chromosome: 11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (13495930..13497003)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (13588667..13589740)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (13517477..13518550)

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 negative calcium response element (nCARE) region Neighboring gene parathyroid hormone 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

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. 1Alpha,25(OH)2D3-induced transrepression by vitamin D receptor through E-box-type elements in the human parathyroid hormone gene promoter. Kim MS, et al. Mol Endocrinol, 2007 Feb. PMID 17095575
  2. Contrasting mammalian PTH promoters: identification of transcription factors controlling PTH gene expression. Koszewski NJ, et al. Clin Nephrol, 2005 Feb. PMID 15730058
  3. Contrasting mammalian parathyroid hormone (PTH) promoters: nuclear factor-Y binds to a deoxyribonucleic acid element unique to the human PTH promoter and acts as a transcriptional enhancer. Alimov AP, et al. Endocrinology, 2004 Jun. PMID 15001549
  4. Identification of a transcription factor that binds to the promoter region of the human parathyroid hormone gene. Darwish HM, et al. Arch Biochem Biophys, 1999 May 1. PMID 10222046
  5. Vitamin D receptor binding to the negative human parathyroid hormone vitamin D response element does not require the retinoid x receptor. Mackey SL, et al. Mol Endocrinol, 1996 Mar. PMID 8833658

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

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_050772.1 

    Range
    101..1174
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    13495930..13497003
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    13588667..13589740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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