Reviewed, UniProtKB/Swiss-Prot Q92506 (DHB8_HUMAN)

Names and origin

Protein names

Recommended name:
    Estradiol 17-beta-dehydrogenase 8
    EC=1.1.1.62
Alternative name(s):
    Testosterone 17-beta-dehydrogenase 8
    EC=1.1.1.63
    17-beta-hydroxysteroid dehydrogenase 8
      Short name=17-beta-HSD 8
    Protein Ke6
      Short name=Ke-6

Gene names

Name:	HSD17B8
Synonyms:	FABGL, HKE6, RING2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	261 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Uses estradiol as its preferred substrate.
Catalytic activity	Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H. Testosterone + NAD(+) = androst-4-ene-3,17-dione + NADH.
Pathway	Steroid biosynthesis; estrogen biosynthesis.
Tissue specificity	High expression in the liver and pancreas, lower in the skeletal muscle and kidney.
Sequence similarities	Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Ontologies

Keywords
Biological process	Lipid synthesis Steroid biosynthesis
Coding sequence diversity	Polymorphism
Ligand	NAD
Molecular function	Oxidoreductase
Technical term	3D-structure
Gene Ontology (GO)
Biological process	estrogen biosynthetic process Non-traceable author statement. Source: UniProtKB oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	binding Inferred from electronic annotation. Source: InterPro estradiol 17-beta-dehydrogenase activity Non-traceable author statement. Source: UniProtKB testosterone 17-beta-dehydrogenase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 261

261

Estradiol 17-beta-dehydrogenase 8

PRO_0000054598

Regions

Nucleotide binding

15 – 39

25

NAD By similarity

Sites

Active site

169

1

Proton acceptor By similarity

Binding site

156

1

Substrate By similarity

Natural variations

Natural variant

158

1

V → L in a breast cancer sample; somatic mutation.

VAR_035844

Experimental info

Sequence conflict

117

1

E → R in BAA11529. Ref.5

Sequence conflict

193

1

R → P in BAA11529. Ref.5

Sequence conflict

208

1

Q → K in BAA11529. Ref.5

Sequence conflict

212

1

Q → K in BAA11529. Ref.5

Secondary structure

1

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261

Helix Strand Turn

Details...

Beta strand

13 – 17

5

Turn

18 – 20

3

Helix

22 – 33

12

Beta strand

37 – 44

8

Helix

45 – 53

9

Beta strand

70 – 73

4

Helix

79 – 93

15

Beta strand

98 – 102

5

Helix

112 – 114

3

Helix

117 – 127

11

Helix

129 – 145

17

Beta strand

149 – 154

6

Helix

158 – 161

4

Helix

167 – 187

21

Helix

188 – 190

3

Beta strand

192 – 199

8

Helix

219 – 221

3

Helix

230 – 241

12

Helix

243 – 245

3

Beta strand

252 – 256

5

Sequences

	Sequence		Length	Mass (Da)
	Q92506-1 [UniParc]. Last modified January 24, 2001. Version 2. Checksum: 8B8B2D7131714D71	FASTA	261	26,974
	10 20 30 40 50 60 MASQLQNRLR SALALVTGAG SGIGRAVSVR LAGEGATVAA CDLDRAAAQE TVRLLGGPGS 70 80 90 100 110 120 KEGPPRGNHA AFQADVSEAR AARCLLEQVQ ACFSRPPSVV VSCAGITQDE FLLHMSEDDW 130 140 150 160 170 180 DKVIAVNLKG TFLVTQAAAQ ALVSNGCRGS IINISSIVGK VGNVGQTNYA ASKAGVIGLT 190 200 210 220 230 240 QTAARELGRH GIRCNSVLPG FIATPMTQKV PQKVVDKITE MIPMGHLGDP EDVADVVAFL 250 260 ASEDSGYITG TSVEVTGGLF M

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[5]	"cDNA cloning of the human homologues of the mouse Ke4 and Ke6 genes at the centromeric end of the human MHC region." Ando A., Kikuti Y.Y., Shigenari A., Kawata H., Okamoto N., Shiina T., Chen L., Ikemura T., Abe K., Kimura M., Inoko H. Genomics 35:600-602(1996) [PubMed: 8812499] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3-261.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-158.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

BT007239 mRNA. Translation: AAP35903.1.
AL031228 Genomic DNA. Translation: CAC38444.1.
AL662824, AL713971 Genomic DNA. Translation: CAI17616.1.
AL713971, AL662824 Genomic DNA. Translation: CAI17657.1.
AL645940 Genomic DNA. Translation: CAI18068.1.
AL844527 Genomic DNA. Translation: CAI41840.1.
CR759786 Genomic DNA. Translation: CAQ08245.1.
CR759733 Genomic DNA. Translation: CAQ10302.1.
CR847841 Genomic DNA. Translation: CAQ10313.1.
CH471081 Genomic DNA. Translation: EAX03682.1.
BC008185 mRNA. Translation: AAH08185.1.
D82061 mRNA. Translation: BAA11529.1.

RefSeq

NP_055049.1.

UniGene

Hs.415058

3D structure databases

PDBMSD

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2PD6	X-ray	2.00	A/B/C/D	5-261	[»]

ModBase

Search...

PTM databases

PhosphoSite

Q92506.

Genome annotation databases

Ensembl

ENSG00000112474. Homo sapiens. [Contig view]
ENSG00000204228. Homo sapiens. [Contig view]
ENSG00000206216. Homo sapiens. [Contig view]

GeneID

7923.

KEGG

hsa:7923.

Organism-specific databases

H-InvDB

HIX0005770.
HIX0057940.
HIX0058115.

HGNC

HGNC:3554. HSD17B8.

MIM

601417. gene.

PharmGKB

PA29484.

GenAtlas

Search...

GeneCards

Search...

Phylogenomic databases

HOGENOM

Q92506.

HOVERGEN

Q92506.

Gene expression databases

ArrayExpress

Q92506.

CleanEx

HS_HSD17B8.

GermOnline

ENSG00000204228. Homo sapiens.

Family and domain databases

InterPro

IPR002198. DHase_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DHase.
IPR016040. NAD(P)-bd.
[Graphical view]

Gene3D

G3DSA:3.40.50.720. NAD(P)-bd. 1 hit.

PANTHER

PTHR19410. ADH_short_C2. 1 hit.

Pfam

PF00106. adh_short. 1 hit.
[Graphical view]

PRINTS

PR00081. GDHRDH.
PR00080. SDRFAMILY.

PROSITE

PS00061. ADH_SHORT. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

DrugBank

DB00157. NADH.

NextBio

30422.

SOURCE

Search...

Entry information

Entry name

DHB8_HUMAN

Accession

Primary (citable) accession number: Q92506
Secondary accession number(s): A6NLX7, Q5STP7, Q9UIQ1

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	January 24, 2001
Last modified:	November 25, 2008
This is version 83 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)