HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSD17B8provided by HGNC
Official Full Name: hydroxysteroid 17-beta dehydrogenase 8provided by HGNC
Primary source: HGNC:HGNC:3554
See related: Ensembl:ENSG00000204228 MIM:601417; AllianceGenome:HGNC:3554
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KE6; FABG; HKE6; FABGL; RING2; H2-KE6; SDR30C1; D6S2245E; dJ1033B10.9
Summary: In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in liver (RPKM 17.4), kidney (RPKM 16.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33204655..33206831)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (33026008..33028184)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33172432..33174608)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Obesity-Related Metabolic Gene HSD17B8 Protects Against Breast Cancer: High RNA/Protein Expression Means a Better Prognosis.
Title: The Obesity-Related Metabolic Gene HSD17B8 Protects Against Breast Cancer: High RNA/Protein Expression Means a Better Prognosis.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Hs17beta-HSD8 and HsCBR4 show a strong genetic interaction in vivo in yeast, where, only if they are expressed together, they rescue the respiratory deficiency and restore the lipoic acid content of oar1Delta cells.
Title: 17beta-hydroxysteroid dehydrogenase type 8 and carbonyl reductase type 4 assemble as a ketoacyl reductase of human mitochondrial FAS.
ERalpha is involved in the transcriptional regulation of HSD17B8 gene in response to E2 through its interaction with C/EBPbeta.
Title: Estradiol induces type 8 17beta-hydroxysteroid dehydrogenase expression: crosstalk between estrogen receptor alpha and C/EBPbeta.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
HSD17B8 mRNA is expressed in human skin, at lower levels in face vs arm or hip. HSD17B8 levels are not altered by topical 17-beta-estradiol treatment.
Title: Induction of collagen by estradiol: difference between sun-protected and photodamaged human skin in vivo.
Expression of the human Ke 6 gene, 17beta-hydroxysteroid dehydrogenase type 8, in E. coli and the substrate specificity of the expressed protein were examined. The tissue distribution of mRNA expression of the human Ke 6 gene was also studied.
Title: Expression in E. coli and tissue distribution of the human homologue of the mouse Ke 6 gene, 17beta-hydroxysteroid dehydrogenase type 8.
transcription in liver is regulated by C/EBPbeta
Title: Transcriptional regulation of the human type 8 17beta-hydroxysteroid dehydrogenase gene by C/EBPbeta.
The results indicate that aromatase, 17beta-HSD type 7 and 17beta-HSD type 12, but not 17beta-HSD type 1, are commonly expressed in human breast cancer.
Title: Expression of aromatase and 17beta-hydroxysteroid dehydrogenase types 1, 7 and 12 in breast cancer. An immunocytochemical study.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31083 (e-PCR)
- UniSTS:23851

M2_2_9 (e-PCR)
- UniSTS:239164

RH66534 (e-PCR)
- UniSTS:52138

MARC_5413-5414:996690360:2 (e-PCR)
- UniSTS:269506

PMC321570P8 (e-PCR)
- UniSTS:273121

MARC_5283-5284:991939549:1 (e-PCR)
- UniSTS:231147

MARC_5283-5284:996690262:1 (e-PCR)
- UniSTS:231147

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables (3R)-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables (3R)-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables NADH binding	IDA Inferred from Direct Assay more info	PubMed
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IBA Inferred from Biological aspect of Ancestor more info
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables quinone binding	IBA Inferred from Biological aspect of Ancestor more info
enables testosterone dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in androgen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in estrogen biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in estrogen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein heterotetramerization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial envelope	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
part_of oxidoreductase complex	IDA Inferred from Direct Assay more info	PubMed
part_of oxidoreductase complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: (3R)-3-hydroxyacyl-CoA dehydrogenase

Names: 17-beta-HSD 8; 17-beta-hydroxysteroid dehydrogenase 8; 3-ketoacyl-[acyl-carrier-protein] reductase alpha subunit; 3-oxoacyl-[acyl-carrier-protein] reductase; KAR alpha subunit; estradiol 17-beta-dehydrogenase 8; estrogen 17-oxidoreductase; ke-6; protein Ke6; really interesting new gene 2 protein; short chain dehydrogenase/reductase family 30C member 1; testosterone 17-beta-dehydrogenase 8

NP_055049.1

EC 1.1.1.239

EC 1.1.1.62

EC 1.1.1.n12

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.

mRNA and Protein(s)

NM_014234.5 → NP_055049.1 (3R)-3-hydroxyacyl-CoA dehydrogenase

See identical proteins and their annotated locations for NP_055049.1

Status: REVIEWED

Source sequence(s)

AW025057, BC008185

Consensus CDS

CCDS4769.1

UniProtKB/Swiss-Prot

A6NLX7, Q5STP7, Q92506, Q9UIQ1

UniProtKB/TrEMBL

A0A1U9X7U3, A0A1U9X7U8

Related

ENSP00000363794.3, ENST00000374662.4

Conserved Domains (1) summary

cd05333
Location:13 → 260

BKR_SDR_c; beta-Keto acyl carrier protein reductase (BKR), involved in Type II FAS, classical (c) SDRs