LOC111589215 BRCA1 promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC111589215
Gene description: BRCA1 promoter region
Gene type: biological region
Feature type(s): protein_bind
regulatory: enhancer, promoter, silencer, 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 locus represents the shared regulatory region of the BRCA1 gene and its antisense transcript, NBR2. An intergenic element in this region functions as a bi-directional promoter whose activity is stimulated by estrogen and repressed by hypoxia and aryl hydrocarbons. This promoter is activated through binding of GA binding protein transcription factors and cAMP responsive element binding protein (CREB) to a discrete enhancer module. E2F family factors, C-terminal binding protein 1, and Ets family transcription factors suppress activity of this region. Silencer elements within the first intron of both the BRCA1 and NBR1 genes were found to attenuate promoter activity. DNA cytosine methylation and epigenetic silencing of this region occurs during the progression of breast and ovarian cancers. Cytosine methylation prevents protein binding by CREB and Sp1, and thereby blocks activation of transcription from this promoter. A subregion was also validated as an enhancer by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. This locus also includes two accessible chromatin subregions that were validated as enhancers based on their ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

Location:: chromosome: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (43124495..43127556)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43983127..43986191)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (41276512..41279179)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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

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General gene information

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Other Names

ATAC-STARR-seq lymphoblastoid active region 12234
ATAC-STARR-seq lymphoblastoid active region 12235
BRCA1-NBR1 bi-directional regulatory region
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41278760-41279573
NBR1 promoter

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.