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UniProtKB/Swiss-Prot entry Q92506


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name DHB8_HUMAN
Primary accession number Q92506
Secondary accession number Q9UIQ1
Integrated into Swiss-Prot on May 30, 2000
Sequence was last modified on January 24, 2001 (Sequence version 2)
Annotations were last modified on    July 22, 2008 (Entry version 79)
Name and origin of the protein
Protein name Estradiol 17-beta-dehydrogenase 8
Synonyms EC 1.1.1.62
Testosterone 17-beta-dehydrogenase 8
EC 1.1.1.63
17-beta-hydroxysteroid dehydrogenase 8
17-beta-HSD 8
Protein Ke6
Ke-6
Gene name
Name: HSD17B8
Synonyms: FABGL, HKE6, RING2
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02055; PubMed=14574404 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 3-261.
DOI=10.1006/geno.1996.0405; PubMed=8812499 [NCBI, ExPASy, EBI, Israel, Japan]
Ando A., Kikuti Y.Y., Shigenari A., Kawata H., Okamoto N., Shiina T., Chen L., Ikemura T., Abe K., Kimura M., Inoko H.;
"cDNA cloning of the human homologues of the mouse Ke4 and Ke6 genes at the centromeric end of the human MHC region.";
Genomics 35:600-602(1996).
[5]
VARIANT [LARGE SCALE ANALYSIS] LEU-158.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
BT007239; AAP35903.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL031228; CAC38444.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC008185; AAH08185.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
D82061; BAA11529.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_055049.1; -.
UniGene Hs.415058
3D structure databases
PDB
2PD6; X-ray; 2.00 A; A/B/C/D=5-261.[ExPASy / RCSB / EBI]
PDBsum 2PD6; -.
ModBase Q92506.
PTM databases
PhosphoSite Q92506; -.
Organism-specific databases
H-InvDB HIX0005770; -.
HIX0057940; -.
HIX0058115; -.
HGNC HGNC:3554; HSD17B8.
GenAtlas HSD17B8.
MIM 601417; gene. [NCBI / EBI]
PharmGKB PA29484; -.
GeneCards Q92506.
Gene expression databases
ArrayExpress Q92506; -.
CleanEx HS_HSD17B8; -.
GermOnline ENSG00000204228; Homo sapiens.
Ontologies
GO
GO:0004303; Molecular function: estradiol 17-beta-dehydrogenase activity (non-traceable author statement from UniProtKB).
GO:0006703; Biological process: estrogen biosynthetic process (non-traceable author statement from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR002198; DHase_sc/Rdtase_SDR.
IPR002347; Glc/ribitol_DHase.
IPR016040; NAD(P)-bd.
Graphical view of domain structure.
Gene3D G3DSA:3.40.50.720; NAD(P)-bd; 1.
PANTHER PTHR19410; ADH_short_C2; 1.
Pfam PF00106; adh_short; 1.
Pfam graphical view of domain structure.
PRINTS PR00081; GDHRDH.
PR00080; SDRFAMILY.
PROSITE PS00061; ADH_SHORT; 1.
BLOCKS 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; -.
Phylogenomic databases
HOGENOM Q92506; -.
HOVERGEN Q92506; -.
Other
DrugBank DB00157; NADH.
SOURCE HSD17B8; Homo sapiens.
ProtoNet Q92506.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Lipid synthesis; NAD; Oxidoreductase; Polymorphism; Steroid biosynthesis.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
CHAIN   1   261  261     Estradiol 17-beta-dehydrogenase 8. PRO_0000054598
NP_BIND   15    39  25     NAD (By similarity). 
ACT_SITE   169   169        Proton acceptor (By similarity). 
BINDING   156   156        Substrate (By similarity). 
VARIANT   158   158  1     V -> L (in a breast cancer sample; somatic mutation). VAR_035844 
CONFLICT   117   117        E -> R (in Ref. 4; BAA11529). 
CONFLICT   193   193        R -> P (in Ref. 4; BAA11529). 
CONFLICT   208   208        Q -> K (in Ref. 4; BAA11529). 
CONFLICT   212   212        Q -> K (in Ref. 4; BAA11529). 
STRAND   13    17  5      
TURN   18    20  3      
HELIX   22    33  12      
STRAND   37    44  8      
HELIX   45    53  9      
STRAND   70    73  4      
HELIX   79    93  15      
STRAND   98   102  5      
HELIX   112   114  3      
HELIX   117   127  11      
HELIX   129   145  17      
STRAND   149   154  6      
HELIX   158   161  4      
HELIX   167   187  21      
HELIX   188   190  3      
STRAND   192   199  8      
HELIX   219   221  3      
HELIX   230   241  12      
HELIX   243   245  3      
STRAND   252   256  5      
Sequence information
Length: 261 AA [This is the length of the unprocessed precursor] Molecular weight: 26974 Da [This is the MW of the unprocessed precursor] CRC64: 8B8B2D7131714D71 [This is a checksum on the sequence]
        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 

Q92506 in FASTA format

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