LOC110467515 CYP1A1 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC110467515
Gene description: CYP1A1 5' regulatory region
Gene type: biological region
Feature type(s): misc_feature: conserved_region
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 represents the promoter and associated regulatory elements of the cytochrome P450 family 1 subfamily A member 1 (CYP1A1) gene. This promoter is stimulated by aromatic hydrocarbons and other xenobiotics, which are thought to trigger binding of aryl hydrocarbon receptor to multiple recognition elements in this sequence. This promoter is also regulated through binding of retinoic X receptor to discrete sites, where it forms dimers with transcriptional regulators such as peroxisome proliferator activated receptor alpha, nuclear receptor subfamily 1 members, or vitamin D receptor to promote gene expression. Ascorbic acid, estrogen, and hydrogen peroxide downregulate promoter activity. A subregion was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in HCT116 colorectal carcinoma cells, where it was defined as a group 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. Sequence elements in this genomic region may function bidirectionally to regulate the adjacent CYP1A2 gene, located approximately 23 kb upstream in the opposite orientation. This locus also includes two accessible chromatin subregions that were validated as silencers based on their ability to repress 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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Genomic context

Location:: chromosome: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (74723795..74727365)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (72593683..72597253)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (75016136..75019706)

Chromosome 15 - NC_000015.10 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

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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 silent region 6655
ATAC-STARR-seq lymphoblastoid silent region 6656
BRD4-independent group 4 enhancer GRCh37_chr15:75018414-75019613
CYP1A1 promoter-proximal 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.