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LOC111240475 HSD17B1 promoter [ Homo sapiens (human) ]

Gene ID: 111240475, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111240475
Gene description
HSD17B1 promoter
Gene type
biological region
Feature type(s)
mobile_element
protein_bind
regulatory: 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 promoter of the hydroxysteroid 17-beta dehydrogenase 1 gene. This promoter is regulated by retinoic acid through an element located in an distal enhancer region. Sp1 transcription factor, transcription factor AP-2 alpha, and GATA binding protein 3 bind and regulate the proximal promoter. This promoter region contains sequence related to endogenous retrovirus. [provided by RefSeq, Oct 2017]
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Genomic context

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Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42552017..42552923)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43409206..43410112)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40704035..40704941)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40688565-40689302 Neighboring gene N-acetyl-alpha-glucosaminidase Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12205 Neighboring gene HSD17B1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40706585-40707152 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40707968-40708515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12207 Neighboring gene Coenzyme A synthase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40717370-40717876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40717877-40718383

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. Interspecies comparison of gene structure and computational analysis of gene regulation of 17beta-hydroxysteroid dehydrogenase type 1. Keller B, et al. Mol Cell Endocrinol, 2006 Mar 27. PMID 16337734
  2. Identification of essential subelements in the hHSD17B1 enhancer: difference in function of the enhancer and that of the hHSD17BP1 analog is due to -480C and -486G. Leivonen S, et al. Endocrinology, 1999 Aug. PMID 10433203
  3. The proximal promoter region of the gene encoding human 17beta-hydroxysteroid dehydrogenase type 1 contains GATA, AP-2, and Sp1 response elements: analysis of promoter function in choriocarcinoma cells. Piao YS, et al. Endocrinology, 1997 Aug. PMID 9231796
  4. Coordination of transcription of the human 17 beta-hydroxysteroid dehydrogenase type 1 gene (EDH17B2) by a cell-specific enhancer and a silencer: identification of a retinoic acid response element. Piao YS, et al. Mol Endocrinol, 1995 Dec. PMID 8614400
  5. Characterization of 17 beta-hydroxysteroid dehydrogenase type 1 in choriocarcinoma cells: regulation by basic fibroblast growth factor. Lewintre EJ, et al. Mol Cell Endocrinol, 1994 Aug. PMID 7821700

See all (11) 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)

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_055578.1 

    Range
    101..1007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42552017..42552923
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43409206..43410112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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