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LOC110386947 CYP19A1 promoter I.1 [ Homo sapiens (human) ]

Gene ID: 110386947, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110386947
Gene description
CYP19A1 promoter I.1
Gene type
biological region
Feature type(s)
mobile_element
protein_bind
regulatory: CAAT_signal, TATA_box, enhancer, promoter, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This record represents an alternate 5' regulatory region of the CYP19A1 (cytochrome P450 family 19 subfamily A member 1) gene, also known as aromatase. This sequence includes a promoter derived from LTR retrotransposon that drives expression in the placenta, as well as an associated upstream enhancer. This region is regulated by estrogen and retinoids, and is inhibited by hypoxia and signaling through transforming growth factor beta. [provided by RefSeq, Jul 2017]
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Genomic context

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Location:
chromosome: 15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (51338521..51341006)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (49146291..49148776)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (51630718..51633203)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 19 subfamily A member 1 Neighboring gene CYP19A1 promoter I.4 Neighboring gene uncharacterized LOC112268146 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:51621311-51621511 Neighboring gene microRNA 7973-2 Neighboring gene microRNA 7973-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:51678296-51678796 Neighboring gene gliomedin Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:51682661-51683516 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:51741640-51742839 Neighboring gene Dmx like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:51861014-51861520 Neighboring gene Sharpr-MPRA regulatory region 1269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6432

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. Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. Hauri-Hohl A, et al. Clin Endocrinol (Oxf), 2011 Jul. PMID 21521281
  2. Transforming growth factor-beta inhibits aromatase gene transcription in human trophoblast cells via the Smad2 signaling pathway. Zhou H, et al. Reprod Biol Endocrinol, 2009 Dec 9. PMID 20003198, Free PMC Article
  3. Hypoxia prevents induction of aromatase expression in human trophoblast cells in culture: potential inhibitory role of the hypoxia-inducible transcription factor Mash-2 (mammalian achaete-scute homologous protein-2). Jiang B, et al. Mol Endocrinol, 2000 Oct. PMID 11043580
  4. A nuclear receptor system constituted by RAR and RXR induces aromatase activity in MCF-7 human breast cancer cells. Mu YM, et al. Mol Cell Endocrinol, 2000 Aug 30. PMID 10996432
  5. A 500-bp region, approximately 40 kb upstream of the human CYP19 (aromatase) gene, mediates placenta-specific expression in transgenic mice. Kamat A, et al. Proc Natl Acad Sci U S A, 1999 Apr 13. PMID 10200304, Free PMC Article

See all (34) 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)

General gene information

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Other Names

  • CYP19A1 I.1 5' regulatory region
  • aromatase promoter I.1

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_054998.1 

    Range
    101..2586
    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    51338521..51341006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    49146291..49148776
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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