[1]	NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS MPH GLN-80; VAL-203; LEU-232 AND VAL-235. TISSUE=Testis; DOI=10.1038/ng0594-34; PubMed=8075637 [NCBI, ExPASy, EBI, Israel, Japan] Geissler W.M., Davis D.L., Wu L., Bradshaw K.D., Patel S., Mendonca B.B., Elliston K.O., Wilson J.D., Russell D.W., Andersson S.; "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3."; Nat. Genet. 7:34-39(1994).
[2]	NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ILE-31 AND SER-289. Rieder M.J., Livingston R.J., Daniels M.R., Chung M.-W., Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A.; "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)."; Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
[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]	VARIANTS MPH LEU-65; PRO-176; GLU-205; ILE-208; ASP-215 AND LEU-282. DOI=10.1210/jc.81.1.130; PubMed=8550739 [NCBI, ExPASy, EBI, Israel, Japan] Andersson S., Geissler W.M., Wu L., Davis D.L., Grumbach M.M., New M.I., Schwarz H.P., Blethen S.L., Mendonca B.B., Bloise W., Witchel S.F., Cutler G.B. Jr., Griffin J.E., Wilson J.D., Russel D.W.; "Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency."; J. Clin. Endocrinol. Metab. 81:130-136(1996).
[5]	VARIANT MPH TRP-80. DOI=10.1530/eje.0.1390330; PubMed=9758445 [NCBI, ExPASy, EBI, Israel, Japan] Bilbao J.R., Loridan L., Audi L., Gonzalo E., Castano L.; "A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism."; Eur. J. Endocrinol. 139:330-333(1998).
[6]	VARIANTS MPH THR-56 AND SER-130, AND VARIANT SER-289. DOI=10.1210/jc.83.8.2855; PubMed=9709959 [NCBI, ExPASy, EBI, Israel, Japan] Moghrabi N., Hughes I.A., Dunaif A., Andersson S.; "Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3)."; J. Clin. Endocrinol. Metab. 83:2855-2860(1998).
[7]	VARIANT MPH TYR-268. DOI=10.1210/jc.86.2.921; PubMed=11158067 [NCBI, ExPASy, EBI, Israel, Japan] Lindqvist A., Hughes I.A., Andersson S.; "Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency."; J. Clin. Endocrinol. Metab. 86:921-923(2001).

Comments

FUNCTION: Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.
CATALYTIC ACTIVITY: Testosterone + NADP⁺ = androst-4-ene-3,17-dione + NADPH.
PATHWAY: Hormone biosynthesis; testosterone biosynthesis .
TISSUE SPECIFICITY: Testis.
DISEASE: Defects in HSD17B3 are the cause of male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]. These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place.
SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=HSD17B3";.

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

U05659; AAC50066.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AY341031; AAP88937.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC034281; AAH34281.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

S43928; S43928.

NP_000188.1; -.

3D structure databases

ModBase

P37058.

Enzyme and pathway databases

Reactome

REACT_602; Lipid and lipoprotein metabolism.

Polymorphism databases

NIEHS-SNPs

HSD17B3.

Organism-specific databases

HIX0008203; -.

HGNC:5212; HSD17B3.

HPA015307; -.

264300; phenotype. [NCBI / EBI]
605573; gene. [NCBI / EBI]

Orphanet

752; 46,XY disorders of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency.

PharmGKB

PA29480; -.

GeneCards

P37058.

Gene expression databases

ArrayExpress

P37058; -.

CleanEx

HS_HSD17B3; -.

GermOnline

ENSG00000130948; Homo sapiens.

Ontologies

GO:0005792;	Cellular component: microsome (traceable author statement from ProtInc).
GO:0030539;	Biological process: male genitalia development (traceable author statement from ProtInc).
GO:0006694;	Biological process: steroid biosynthetic process (inferred from experiment from Reactome).
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

P37058.

Genome annotation databases

Ensembl

ENSG00000130948; Homo sapiens. [Contig view]

GeneID

3293; -.

KEGG

hsa:3293; -.

Phylogenomic databases

HOGENOM

P37058; -.

HOVERGEN

P37058; -.

Other

DrugBank

DB00157; NADH.

SOURCE

HSD17B3; Homo sapiens.

ProtoNet

P37058.

UniRef

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Disease mutation; Lipid synthesis; NADP; Oxidoreductase; Polymorphism; Pseudohermaphroditism; Steroid biosynthesis.

Features

Feature table viewer

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 310`	`310`	`Testosterone 17-beta-dehydrogenase 3.`	`PRO_0000054573`
`NP_BIND`	`48 77`	`30`	`NADP (By similarity).`
`ACT_SITE`	`198 198`		`Proton acceptor (By similarity).`
`BINDING`	`185 185`		`Substrate (By similarity).`
`VARIANT`	`31 31`	`1`	`V -> I (in dbSNP:rs2066480 [NCBI]).`	`VAR_014870`
`VARIANT`	`56 56`	`1`	`A -> T (in MPH; Cambridge-2. Affects NADPH cofactor binding).`	`VAR_016067`
`VARIANT`	`65 65`	`1`	`S -> L (in MPH).`	`VAR_016068`
`VARIANT`	`80 80`	`1`	`R -> Q (in MPH; Gaza).`	`VAR_006953`
`VARIANT`	`80 80`	`1`	`R -> W (in MPH).`	`VAR_006954`
`VARIANT`	`130 130`	`1`	`N -> S (in MPH; Cambridge-1. Complete loss of activity).`	`VAR_016069`
`VARIANT`	`176 176`	`1`	`Q -> P (in MPH).`	`VAR_016070`
`VARIANT`	`203 203`	`1`	`A -> V (in MPH).`	`VAR_006955`
`VARIANT`	`205 205`	`1`	`V -> E (in MPH).`	`VAR_016071`
`VARIANT`	`208 208`	`1`	`F -> I (in MPH).`	`VAR_016072`
`VARIANT`	`215 215`	`1`	`E -> D (in MPH).`	`VAR_016203`
`VARIANT`	`232 232`	`1`	`S -> L (in MPH).`	`VAR_006956`
`VARIANT`	`235 235`	`1`	`M -> V (in MPH).`	`VAR_006957`
`VARIANT`	`268 268`	`1`	`C -> Y (in MPH; complete loss of activity).`	`VAR_016073`
`VARIANT`	`282 282`	`1`	`P -> L (in MPH).`	`VAR_016074`
`VARIANT`	`289 289`	`1`	`G -> S (in dbSNP:rs2066479 [NCBI]).`	`VAR_014871`

Sequence information

Length: 310 AA [This is the length of the unprocessed precursor]

Molecular weight: 34516 Da [This is the MW of the unprocessed precursor]

CRC64: 0643FF35ED979185 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MGDVLEQFFI LTGLLVCLAC LAKCVRFSRC VLLNYWKVLP KSFLRSMGQW AVITGAGDGI 

        70         80         90        100        110        120 
GKAYSFELAK RGLNVVLISR TLEKLEAIAT EIERTTGRSV KIIQADFTKD DIYEHIKEKL 

       130        140        150        160        170        180 
AGLEIGILVN NVGMLPNLLP SHFLNAPDEI QSLIHCNITS VVKMTQLILK HMESRQKGLI 

       190        200        210        220        230        240 
LNISSGIALF PWPLYSMYSA SKAFVCAFSK ALQEEYKAKE VIIQVLTPYA VSTAMTKYLN 

       250        260        270        280        290        300 
TNVITKTADE FVKESLNYVT IGGETCGCLA HEILAGFLSL IPAWAFYSGA FQRLLLTHYV 

       310 
AYLKLNTKVR

P37058 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools