LOC110013312 BGLAP promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC110013312
Gene description: BGLAP promoter region
Gene type: biological region
Feature type(s): protein_bind
regulatory: TATA_box, enhancer, promoter, response_element, 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 bone gamma-carboxyglutamate protein (BGLAP) gene, which is also known as osteocalcin. This promoter is stimulated by vitamin D through binding of vitamin D receptor to a conserved recognition element. This element also mediates upregulation by vitamin A and repression by AP-1 family transcription factors, which compete for binding with vitamin D receptor. Glucocorticoids act as negative regulators of activity through binding of nuclear receptor subfamily 3 group C member 1 (Nr3c1/Gr) to a recognition site that overlaps the TATA box, thereby inhibiting binding by TATA-box binding protein. Other regulators of this promoter include runt related transcription factor 2, cytokines, tumor necrosis factor, p53, and GATA repressor TRPS1. Two subregions marked by the H3K4me1 histone modification were also shown to function as active enhancers by ChIP-STARR-seq in human embryonic stem cells. [provided by RefSeq, Oct 2022]
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Genomic context

Location:: chromosome: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (156240844..156242266)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (155379301..155380723)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (156210635..156212057)

Chromosome 1 - NC_000001.11 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

H3K4me1 hESC enhancer GRCh37_chr1:156210831-156211350
H3K4me1 hESC enhancer GRCh37_chr1:156211351-156211868
osteocalcin promoter

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.