LOC107832851 SIRT1 promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107832851
Gene description: SIRT1 promoter region
Gene type: biological region
Feature type(s): misc_structure
protein_bind
regulatory: enhancer, promoter, silencer
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This region encompasses the promoter of the sirtuin 1 gene. Activity of this promoter is stimulated by tumor protein p53, hypoxia inducible factor 1 alpha, peroxisome proliferator activated receptor delta, and tumor necrosis factor alpha. Association of peroxisome proliferator activated receptor gamma and hypermethylated in cancer 1 (Hic1) may downregulate expression. Genotoxic stress induces association of apurinic/apyrimidinic endodeoxyribonuclease 1 to calcium response elements (nCaRE) in this region, which results in induction of gene expression. Several naturally-occurring polymorphisms in this region affect activity of this promoter and may influence longevity. An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in HepG2 liver carcinoma cells. This locus also includes three accessible chromatin subregions, two of which were validated as enhancers and one as a silencer based on their ability to activate or 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: mouse all
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Genomic context

Location:: chromosome: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (67881967..67885031)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (68750712..68753776)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (69641725..69644482)

Chromosome 10 - NC_000010.11 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

ATAC-STARR-seq lymphoblastoid active region 3458
ATAC-STARR-seq lymphoblastoid active region 3459
ATAC-STARR-seq lymphoblastoid silent region 2414
ReSE screen-validated silencer GRCh37_chr10:69644290-69644474

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.