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

Gene ID: 7923, updated on 19-Sep-2024

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
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Genomic context

See HSD17B8 in Genome Data Viewer
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_000006.12Genomic Context describing neighboring genes Neighboring gene retinoid X receptor beta Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:33168171-33168672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33168673-33169174 Neighboring gene RNY4 pseudogene 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33169175-33169676 Neighboring gene solute carrier family 39 member 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33172262-33173144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33173145-33174025 Neighboring gene microRNA 219a-1 Neighboring gene ring finger protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

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 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 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

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

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)

  1. NM_014234.5NP_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:13260
    BKR_SDR_c; beta-Keto acyl carrier protein reductase (BKR), involved in Type II FAS, classical (c) SDRs

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    33204655..33206831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    4616160..4618332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    4448154..4450330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    4624128..4626308
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    4640608..4642784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    4399059..4401239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    33026008..33028184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)