LOC108863620 STAR 5' regulatory region [Homo sapiens (human)] - Gene

Summary

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Gene symbol: LOC108863620
Gene description: STAR 5' regulatory region
Gene type: biological region
Feature type(s): protein_bind
regulatory: TATA_box, enhancer, promoter
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This locus encompasses the promoter and nearby elements that regulate expression of the steroidogenic acute regulatory protein (STAR) gene. Activity of this region is stimulated by cyclic AMP, and regulated through signalling by various factors, including angiotensin II, prostaglandin E2, and aryl hydrocarbons. The proximal promoter sequence is conserved in mammals and includes recognition sites for nuclear receptor subfamily 5 group A member 1 (Nr5a1/Sf1), CCAAT/enhancer binding proteins, and sterol regulatory element binding transcription factor 1, which act as positive regulators of transcription. Nuclear receptor subfamily 0 group B member 1 (Nr0b1/Dax1) binds close to the putative TATA box and negatively regulates activity of this sequence. A distal regulatory region located approximately 3 kb from the transcription start site contains additional Nr5a1/Sf1 binding sites and was shown by chromatin conformation analysis to associate with the proximal 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 an accessible chromatin subregion that was validated as an enhancer based on its 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]
Orthologs: mouse all
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Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (38150791..38154500)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (38427795..38431494)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (38008443..38011872)

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

ATAC-STARR-seq lymphoblastoid active region 27242
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38011033-38012018

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.