LOC110973015 NOS3 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC110973015
Gene description: NOS3 5' regulatory region
Gene type: biological region
Feature type(s): misc_feature: sequence_alteration
mobile_element
protein_bind
regulatory: DNase_I_hypersensitive_site, 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 region contains multiple DNase I hypersensitive sites and encompasses promoters and associated regulatory regions for the nitric oxide synthase 3 (NOS3) gene. The downstream promoter is activated through binding of Sp1 transcription factor, and further regulated by Ets factor and AP-1 factor sites. This promoter is further stimulated by shear stress, estrogen and transforming growth factor beta, and is repressed by glucocorticoids and hydrogen peroxide. An upstream enhancer region mediates induction by hypoxia. This sequence also includes an alternative, possibly placenta-specific, upstream promoter that is derived from an LTR (long terminal repeat) element. Naturally-occurring polymorphisms in this region, including rs2070744 in the downstream promoter, have been associated with coronary spasm and other cardiac and circulatory diseases. Activity of this region may be regulated in different cell types by DNA methylation and histone deacetylation. A subregion was also validated as an enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
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Genomic context

Location:: chromosome: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (150988222..150994377)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (152161030..152167185)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (150685310..150691217)

Chromosome 7 - NC_000007.14 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

H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150690747-150691465
eNOS promoter region

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.