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LOC110599580 CYP1B1 promoter [ Homo sapiens (human) ]

Gene ID: 110599580, updated on 17-Sep-2024

Summary

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Gene symbol
LOC110599580
Gene description
CYP1B1 promoter
Gene type
biological region
Feature type(s)
protein_bind
regulatory: TATA_box, 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 of the cytochrome P450 family 1 subfamily B member 1 (CYP1B1) gene. This promoter is stimulated by xenobiotics such as TCDD through binding of aryl hydrocarbon receptor and Sp1 transcription factor to multiple sequence motifs in this region. Estradiol also activates this promoter through binding of estrogen receptor. A naturally-occurring polymorphism in the proximal promoter region (rs2567206) was shown to affect promoter activity and is associated with glaucoma. This region may be silenced by DNA methylation in cancers. 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) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Orthologs
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Genomic context

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See LOC110599580 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38076132..38077840)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38083018..38084726)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (38303274..38304982)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11365 Neighboring gene PU.1 (SPI1) induced regulator of S100A8 and S100A9 alarmin transcription 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:38168691-38169192 Neighboring gene regulator of microtubule dynamics 2 Neighboring gene RMDN2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:38207514-38207877 Neighboring gene zinc finger protein 430 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr2:38244929-38245461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11367 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:38298139 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:38326323-38326823 Neighboring gene cytochrome P450 family 1 subfamily B member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38334037-38334776 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38334777-38335516 Neighboring gene uncharacterized LOC107985871 Neighboring gene CYP1B1 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:38373590-38374789 Neighboring gene RNA, U6 small nuclear 951, pseudogene Neighboring gene uncharacterized LOC102723739 Neighboring gene ribosomal protein L7 pseudogene 12

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Functional analysis of the promoter for the human CYP1B1 gene. Wo YY, et al. J Biol Chem, 1997 Oct 17. PMID 9334254
  2. Critical enhancer region to which AhR/ARNT and Sp1 bind in the human CYP1B1 gene. Tsuchiya Y, et al. J Biochem, 2003 May. PMID 12801909
  3. Transient induction of cytochromes P450 1A1 and 1B1 in MCF-7 human breast cancer cells by indirubin. Spink BC, et al. Biochem Pharmacol, 2003 Dec 15. PMID 14637189
  4. Human CYP1B1 is regulated by estradiol via estrogen receptor. Tsuchiya Y, et al. Cancer Res, 2004 May 1. PMID 15126349
  5. Pharmacogenetics and regulation of human cytochrome P450 1B1: implications in hormone-mediated tumor metabolism and a novel target for therapeutic intervention. Sissung TM, et al. Mol Cancer Res, 2006 Mar. PMID 16547151

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

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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Homology

Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 11368
  • ATAC-STARR-seq lymphoblastoid silent region 11369

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.

Genomic

  1. NG_055444.1 

    Range
    101..1809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    38076132..38077840
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    38083018..38084726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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