LOC108491836 NR5A1 5' promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108491836
Gene description: NR5A1 5' promoter region
Gene type: biological region
Feature type(s): protein_bind
regulatory: 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 locus spans the 5' promoter region of the the nuclear receptor subfamily 5 group A member 1 (NR5A1/SF-1) gene. This promoter is regulated by binding of upstream transcription factors (USF1 and 2) to a conserved E-box, as well as binding by SRY-box factors and autoregulation by Nr5a1/Sf-1 protein. This region is hypomethylated and over-expressed in endometriosis. 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]
Orthologs: mouse all
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Genomic context

Location:: chromosome: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (124503457..124508385)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (136701682..136706610)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (127265747..127270664)

Chromosome 9 - NC_000009.12 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_chr9:127265736-127266426

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.