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P56937 (DHB7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 144. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
3-keto-steroid reductase

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

Protein attributes

Sequence length341 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Responsible for the reduction of the keto group on the C-3 of sterols. Ref.11

Catalytic activity

A 3-beta-hydroxysteroid + NADP+ = a 3-oxosteroid + NADPH.

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

Pathway

Steroid biosynthesis; estrogen biosynthesis.

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

Subcellular location

Cell 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.

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 – 25021Helical; 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 »

FASTA33337,262
Isoform 3 [UniParc].

Checksum: 61F696BEDA3B9EAE
Show »

FASTA30634,476

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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[7]"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).
[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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION, FUNCTION.
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
AK290741 mRNA. Translation: BAF83430.1.
BT007075 mRNA. Translation: AAP35738.1.
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.
CCDSCCDS1242.1. [P56937-1]
RefSeqNP_057455.1. NM_016371.2. [P56937-1]
UniGeneHs.492925.

3D structure databases

ProteinModelPortalP56937.
SMRP56937. Positions 2-228.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119563. 7 interactions.
IntActP56937. 5 interactions.
STRING9606.ENSP00000254521.

Chemistry

BindingDBP56937.
ChEMBLCHEMBL5999.
DrugBankDB00157. NADH.

PTM databases

PhosphoSiteP56937.

Polymorphism databases

DMDM8134404.

Proteomic databases

MaxQBP56937.
PaxDbP56937.
PRIDEP56937.

Protocols and materials databases

DNASU51478.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000254521; ENSP00000254521; ENSG00000132196. [P56937-1]
ENST00000367917; ENSP00000356894; ENSG00000132196. [P56937-3]
GeneID51478.
KEGGhsa:51478.
UCSCuc001gci.3. human. [P56937-1]

Organism-specific databases

CTD51478.
GeneCardsGC01P162760.
HGNCHGNC:5215. HSD17B7.
HPAHPA047496.
MIM606756. gene.
neXtProtNX_P56937.
PharmGKBPA29483.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1028.
HOGENOMHOG000253921.
HOVERGENHBG058236.
InParanoidP56937.
KOK13373.
OMACHSDNPS.
PhylomeDBP56937.
TreeFamTF105433.

Enzyme and pathway databases

BioCycMetaCyc:HS05604-MONOMER.
ReactomeREACT_111217. Metabolism.
SABIO-RKP56937.
UniPathwayUPA00769.
UPA00770; UER00758.

Gene expression databases

BgeeP56937.
CleanExHS_HSD17B7.
GenevestigatorP56937.

Family and domain databases

Gene3D3.40.50.720. 1 hit.
InterProIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSPR00081. GDHRDH.
ProtoNetSearch...

Other

GeneWikiHSD17B7.
GenomeRNAi51478.
NextBio55124.
PROP56937.
SOURCESearch...

Entry information

Entry nameDHB7_HUMAN
AccessionPrimary (citable) accession number: P56937
Secondary accession number(s): Q5T246 expand/collapse secondary AC list , Q7Z4V9, Q8WWS2, Q9UF00
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: July 9, 2014
This is version 144 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM