LOC110599591 CYP3A7 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC110599591
Gene description: CYP3A7 5' regulatory region
Gene type: biological region
Feature type(s): protein_bind
regulatory: 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 region represents the 5' regulatory region of the CYP3A7 (cytochrome P450 family 3 subfamily A member 7) gene, and includes both the proximal promoter and associated distal regulatory elements, including an upstream xenobiotic responsive module. This region is activated by xenobiotics and glucocorticoids, and is stimulated by binding of forkhead box A2, Sp1/Sp3 transcription factors, upstream transcription factor 1, nuclear receptor subfamily 1 group I members, and nuclear factor I to the proximal promoter. A subregion was also validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells, where it was defined as a group 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. The 5' regulatory regions of CYP3 family members, including CYP3A4 and CYP3A5, are highly similar at the sequence level but have subtle differences in function. A subregion was also shown to be an enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors. [provided by RefSeq, Dec 2022]
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Genomic context

Location:: chromosome: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (99735093..99744505)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (100974613..100984026)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (99332716..99342128)

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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

CYP3A7 promoter
MED14-independent group 3 enhancer GRCh37_chr7:99333979-99335178
OCT4-NANOG hESC enhancer GRCh37_chr7:99337371-99337883

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.