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LOC110673972 CYP11B1 promoter [ Homo sapiens (human) ]

Gene ID: 110673972, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110673972
Gene description
CYP11B1 promoter
Gene type
biological region
Feature type(s)
misc_feature: conserved_region
mobile_element
protein_bind
regulatory: TATA_box, promoter
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 promoter of the cytochrome P450 family 11 subfamily B member 1 (CYP11B1). This promoter is induced by cyclic AMP through binding of nuclear receptor subfamily 5 members to a conserved sequence element. Paired like homeodomain 1 and estrogen related receptor alpha also associate with this region and may positively regulate promoter activity. This region contains an L1 retroelement insertion that may attenuate promoter activity. [provided by RefSeq, Jul 2017]
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Genomic context

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Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (142879723..142881144)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144023058..144024479)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (143961139..143962560)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene glycosylphosphatidylinositol anchored molecule like Neighboring gene zinc finger HIT-type containing 1 pseudogene 1 Neighboring gene CYP11B1 recombination region Neighboring gene cytochrome P450 family 11 subfamily B member 1 Neighboring gene CYP11B2 recombination region Neighboring gene cytochrome P450 family 11 subfamily B member 2 Neighboring gene CYP11B2 promoter Neighboring gene uncharacterized LOC105375794

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. Transcriptional regulation of human 11beta-hydroxylase (hCYP11B1). Wang XL, et al. Endocrinology, 2000 Oct. PMID 11014212
  2. Activity of 5'-deletion mutants of the human CYP11B1 promoter in H295R cells. Lenz D, et al. Endocr Res, 1996 Nov. PMID 8969903
  3. Flavonoids exhibit diverse effects on CYP11B1 expression and cortisol synthesis. Cheng LC, et al. Toxicol Appl Pharmacol, 2012 Feb 1. PMID 22172629
  4. Regulation of human CYP11B1 and CYP11B2 promoters by transposable elements and conserved cis elements. Cheng LC, et al. Steroids, 2012 Jan. PMID 22079243
  5. The orphan nuclear receptors NURR1 and NGFIB regulate adrenal aldosterone production. Bassett MH, et al. Mol Endocrinol, 2004 Feb. PMID 14645496

See all (15) 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_055454.1 

    Range
    101..1522
    Download
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    142879723..142881144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    144023058..144024479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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