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

Gene ID: 7923, updated on 8-May-2016
Official Symbol
HSD17B8provided by HGNC
Official Full Name
hydroxysteroid (17-beta) dehydrogenase 8provided by HGNC
Primary source
HGNC:HGNC:3554
See related
Ensembl:ENSG00000204228 HPRD:03248; MIM:601417; Vega:OTTHUMG00000031117
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]
Orthologs
Location:
6p21.3
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (33204637..33206831)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33172414..33174608)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene retinoid X receptor beta Neighboring gene RNA, Ro-associated Y4 pseudogene 10 Neighboring gene solute carrier family 39 member 7 Neighboring gene microRNA 219a-1 Neighboring gene ring finger protein 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.
NHGRI GWA Catalog
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Steroid hormone biosynthesis, organism-specific biosystem (from KEGG)
    Steroid hormone biosynthesis, organism-specific biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
  • Steroid hormone biosynthesis, conserved biosystem (from KEGG)
    Steroid hormone biosynthesis, conserved biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-hydroxyacyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
estradiol 17-beta-dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
testosterone dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
androgen metabolic process IEA
Inferred from Electronic Annotation
more info
 
estrogen biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
estrogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial envelope IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
estradiol 17-beta-dehydrogenase 8
Names
17-beta-HSD 8
17-beta-hydroxysteroid dehydrogenase 8
3-oxoacyl-[acyl-carrier-protein] reductase
estrogen 17-oxidoreductase
ke-6
protein Ke6
really interesting new gene 2 protein
short chain dehydrogenase/reductase family 30C member 1
short chain dehydrogenase/reductase family 30C, member 1
testosterone 17-beta-dehydrogenase 8
NP_055049.1

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_014234.4NP_055049.1  estradiol 17-beta-dehydrogenase 8

    See identical proteins and their annotated locations for NP_055049.1

    Status: REVIEWED

    Source sequence(s)
    AW025057, BC008185, HY167181
    Consensus CDS
    CCDS4769.1
    UniProtKB/Swiss-Prot
    Q92506
    Related
    ENSP00000363794, OTTHUMP00000029153, ENST00000374662, OTTHUMT00000076196
    Conserved Domains (2) summary
    cd05333
    Location:13260
    BKR_SDR_c; beta-Keto acyl carrier protein reductase (BKR), involved in Type II FAS, classical (c) SDRs
    PRK05653
    Location:14261
    fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Validated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    33204637..33206831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p2 ALT_REF_LOCI_2

    Range
    4616142..4618332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p2 ALT_REF_LOCI_3

    Range
    4448136..4450330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p2 ALT_REF_LOCI_4

    Range
    4624110..4626308
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p2 ALT_REF_LOCI_5

    Range
    4640590..4642784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p2 ALT_REF_LOCI_6

    Range
    4399041..4401239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    33174288..33176486
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)