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Reviewed, UniProtKB/Swiss-Prot P56937 (DHB7_HUMAN)

Last modified November 25, 2008. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    3-keto-steroid reductase
    EC=1.1.1.270
Alternative name(s):
    Estradiol 17-beta-dehydrogenase 7
    EC=1.1.1.62
    17-beta-hydroxysteroid dehydrogenase 7
      Short name=17-beta-HSD 7
Gene names
Name: HSD17B7
ORF Names: UNQ2563/PRO6243
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length341 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Responsible for the reduction of the keto group on the C-3 of sterols.

Catalytic activity

4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NADP(+) = 4-alpha-methyl-5-alpha-cholest-7-en-3-one + NADPH.

Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H.

Pathway

Steroid biosynthesis; estrogen biosynthesis.

Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 5/6.

Subcellular location

Membrane; Single-pass membrane protein.

Tissue specificity

Highly expressed in adrenal gland, liver, lung and thymus. Expressed in breast, ovaries, pituitary gland, pregnant uterus, prostate, kidney, lymph node, small intestine, spinal cord and trachea. Weakly expressed in all other tissues tested. Isoform 3 is expressed in eye ciliary epithelial cells and neuroendocrine cells.

Post-translational modification

Phosphorylated.

Sequence similarities

Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily.

Ontologies

Keywords

   Biological processLipid synthesis
Steroid biosynthesis
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
   DomainTransmembrane
   LigandNAD
NADP
   Molecular functionOxidoreductase
   PTMGlycoprotein

Gene Ontology (GO)

   Biological processoxidation reduction

Inferred from electronic annotation. Source: UniProtKB-KW

steroid biosynthetic process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentendoplasmic reticulum membrane

Inferred from Experiment. Source: Reactome

integral to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular function3-keto-steroid reductase activity

Inferred from electronic annotation. Source: EC

binding

Inferred from electronic annotation. Source: InterPro

estradiol 17-beta-dehydrogenase activity Ref.1

Traceable author statement. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P56937-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P56937-2)

The sequence of this isoform differs from the canonical sequence as follows:
     112-119: Missing.
Isoform 3 (identifier: P56937-3)

The sequence of this isoform differs from the canonical sequence as follows:
     215-249: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 3413413-keto-steroid reductase
PRO_0000054586

Regions

Topological domain1 – 229229Extracellular Potential
Transmembrane230 – 25021 Potential
Topological domain251 – 34191Cytoplasmic Potential
Nucleotide binding8 – 158NAD Potential

Sites

Active site1931Proton acceptor By similarity
Binding site1711Substrate By similarity

Amino acid modifications

Glycosylation371N-linked (GlcNAc...) Potential
Glycosylation1781N-linked (GlcNAc...) Potential
Glycosylation2291N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence112 – 1198Missing in isoform 2.
VSP_006029
Alternative sequence215 – 24935Missing in isoform 3.
VSP_012766

Experimental info

Sequence conflict52 – 532HP → PT in AAF14537. Ref.1
Sequence conflict611Q → P in AAF14537. Ref.1
Sequence conflict861C → R in CAC88111. Ref.3
Sequence conflict1051F → L in CAC88111. Ref.3
Sequence conflict1351L → F in AAP97275. Ref.4
Sequence conflict273 – 2764HQKP → PPKA in AAP97275. Ref.4
Sequence conflict288 – 2958ATTGFGRN → GTTALEEI in AAP97275. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 30, 2000. Version 1.
Checksum: FE4892B2602F549B

FASTA34138,206
        10         20         30         40         50         60 
MRKVVLITGA SSGIGLALCK RLLAEDDELH LCLACRNMSK AEAVCAALLA SHPTAEVTIV 

        70         80         90        100        110        120 
QVDVSNLQSV FRASKELKQR FQRLDCIYLN AGIMPNPQLN IKALFFGLFS RKVIHMFSTA 

       130        140        150        160        170        180 
EGLLTQGDKI TADGLQEVFE TNVFGHFILI RELEPLLCHS DNPSQLIWTS SRSARKSNFS 

       190        200        210        220        230        240 
LEDFQHSKGK EPYSSSKYAT DLLSVALNRN FNQQGLYSNV ACPGTALTNL TYGILPPFIW 

       250        260        270        280        290        300 
TLLMPAILLL RFFANAFTLT PYNGTEALVW LFHQKPESLN PLIKYLSATT GFGRNYIMTQ 

       310        320        330        340 
KMDLDEDTAE KFYQKLLELE KHIRVTIQKT DNQARLSGSC L 

« Hide

Isoform 2 [UniParc].

Checksum: 187F2F8818D93869
Show »

33337,262
Isoform 3 [UniParc].

Checksum: 61F696BEDA3B9EAE
Show »

30634,476

References

« Hide 'large scale' references
[1]"Determination of cDNA, gene structure and chromosomal localization of the novel human 17beta-hydroxysteroid dehydrogenase type 7."
Krazeisen A., Breitling R., Imai K., Fritz S., Moeller G., Adamski J.
FEBS Lett. 460:373-379(1999) [PubMed: 10544267] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
[2]Krazeisen A., Breitling R., Imai K., Fritz S., Moeller G., Adamski J.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION.
[3]"Production, purification, and functional analysis of recombinant human and mouse 17beta-hydroxysteroid dehydrogenase type 7."
Toern S., Nokelainen P., Kurkela R., Pulkka A., Menjivar M., Ghosh S., Coca-Prados M., Peltoketo H., Isomaa V., Vihko P.
Biochem. Biophys. Res. Commun. 305:37-45(2003) [PubMed: 12732193] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 3).
Tissue: Placenta.
[4]"Cloning of a new human cDNA homologous to Rattus norvegicus ovarian-specific protein."
Zhou Y., Yu L., Zhao S.Y.
Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"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] (ISOFORM 1).
[7]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed: 16710414] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]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. expand/collapse author list , 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].
[10]"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] (ISOFORM 1).
Tissue: Skin and Urinary bladder.
[11]"Closing the gap: identification of human 3-ketosteroid reductase, the last unknown enzyme of mammalian cholesterol biosynthesis."
Marijanovic Z., Laubner D., Moeller G., Gege C., Husen B., Adamski J., Breitling R.
Mol. Endocrinol. 17:1715-1725(2003) [PubMed: 12829805] [Abstract]
Cited for: CHARACTERIZATION, FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

AF098786 mRNA. Translation: AAF09266.2.
AF162767 expand/collapse EMBL AC list , AF162759, AF162760, AF162761, AF162762, AF162763, AF162764, AF162765, AF162766 Genomic DNA. Translation: AAF14537.1.
AJ249179 mRNA. Translation: CAC20418.1.
AJ250550 expand/collapse EMBL AC list , AJ250551, AJ250552, AJ250553, AJ250554, AJ250555, AJ250556, AJ250557, AJ250558 Genomic DNA. Translation: CAC88111.1.
AF145023 mRNA. Translation: AAP97275.1.
AY358962 mRNA. Translation: AAQ89321.1.
BT007075 mRNA. Translation: AAP35738.1.
AK290741 mRNA. Translation: BAF83430.1.
AL392003, AL445197 Genomic DNA. Translation: CAI13457.1.
AL445197, AL392003 Genomic DNA. Translation: CAI15947.1.
CH471067 Genomic DNA. Translation: EAW90716.1.
BC007068 mRNA. Translation: AAH07068.1.
BC065246 mRNA. Translation: AAH65246.1.
RefSeqNP_057455.1.
UniGeneHs.492925

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteP56937.

Genome annotation databases

EnsemblENSG00000132196. Homo sapiens. [Contig view]
GeneID51478.
KEGGhsa:51478.

Organism-specific databases

H-InvDBHIX0001267.
HIX0019166.
HGNCHGNC:5215. HSD17B7.
MIM606756. gene.
PharmGKBPA29483.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMP56937.
HOVERGENP56937.

Enzyme and pathway databases

ReactomeREACT_602. Lipid and lipoprotein