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Protein

Testosterone 17-beta-dehydrogenase 3

Gene

HSD17B3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.1 Publication

Catalytic activityi

Testosterone + NADP+ = androst-4-ene-3,17-dione + NADPH.

Pathwayi: testosterone biosynthesis

This protein is involved in the pathway testosterone biosynthesis, which is part of Hormone biosynthesis.
View all proteins of this organism that are known to be involved in the pathway testosterone biosynthesis and in Hormone biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei185SubstrateBy similarity1
Active sitei198Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi48 – 77NADPBy similarityAdd BLAST30

GO - Molecular functioni

GO - Biological processi

  • androgen biosynthetic process Source: Reactome
  • male genitalia development Source: ProtInc
  • testosterone biosynthetic process Source: UniProtKB-UniPathway

Keywordsi

Molecular functionOxidoreductase
Biological processLipid biosynthesis, Lipid metabolism, Steroid biosynthesis
LigandNADP

Enzyme and pathway databases

BioCyciMetaCyc:HS05461-MONOMER
BRENDAi1.1.1.51 2681
1.1.1.64 2681
ReactomeiR-HSA-193048 Androgen biosynthesis
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs
UniPathwayiUPA00367

Chemistry databases

SwissLipidsiSLP:000001270 [P37058-1]

Names & Taxonomyi

Protein namesi
Recommended name:
Testosterone 17-beta-dehydrogenase 3 (EC:1.1.1.64)
Alternative name(s):
17-beta-hydroxysteroid dehydrogenase type 3
Short name:
17-beta-HSD 3
Short chain dehydrogenase/reductase family 12C member 2
Testicular 17-beta-hydroxysteroid dehydrogenase
Gene namesi
Name:HSD17B3
Synonyms:EDH17B3, SDR12C2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000130948.9
HGNCiHGNC:5212 HSD17B3
MIMi605573 gene
neXtProtiNX_P37058

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Male pseudohermaphrodism with gynecomastia (MPH)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThese 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.
See also OMIM:264300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01606756A → T in MPH; Cambridge-2; affects NADPH cofactor binding. 1 PublicationCorresponds to variant dbSNP:rs119481078EnsemblClinVar.1
Natural variantiVAR_01606865S → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs747329682EnsemblClinVar.1
Natural variantiVAR_00695380R → Q in MPH; Gaza. 1 PublicationCorresponds to variant dbSNP:rs119481075EnsemblClinVar.1
Natural variantiVAR_00695480R → W in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481077EnsemblClinVar.1
Natural variantiVAR_016069130N → S in MPH; Cambridge-1; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs119481079EnsemblClinVar.1
Natural variantiVAR_075369133G → R in MPH; almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity; no effect on protein abundance; no effect on endoplasmic reticulum location. 1 PublicationCorresponds to variant dbSNP:rs747724352EnsemblClinVar.1
Natural variantiVAR_016070176Q → P in MPH. 1 PublicationCorresponds to variant dbSNP:rs767259718Ensembl.1
Natural variantiVAR_006955203A → V in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481076EnsemblClinVar.1
Natural variantiVAR_016071205V → E in MPH. 1 PublicationCorresponds to variant dbSNP:rs372027264EnsemblClinVar.1
Natural variantiVAR_016072208F → I in MPH. 1 Publication1
Natural variantiVAR_016203215E → D in MPH. 1 PublicationCorresponds to variant dbSNP:rs115063639Ensembl.1
Natural variantiVAR_006956232S → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs28939085EnsemblClinVar.1
Natural variantiVAR_006957235M → V in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481074EnsemblClinVar.1
Natural variantiVAR_016073268C → Y in MPH; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs119481080EnsemblClinVar.1
Natural variantiVAR_016074282P → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs144809928EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi133G → A: Has 70% of wild-type testosterone 17-beta-dehydrogenase (NADP+) activity. 1 Publication1
Mutagenesisi133G → F: Almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity. 1 Publication1
Mutagenesisi133G → Q: Almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

DisGeNETi3293
MalaCardsiHSD17B3
MIMi264300 phenotype
OpenTargetsiENSG00000130948
Orphaneti752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
PharmGKBiPA29480

Chemistry databases

ChEMBLiCHEMBL4234
DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiHSD17B3
DMDMi1169300

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000545731 – 310Testosterone 17-beta-dehydrogenase 3Add BLAST310

Proteomic databases

PaxDbiP37058
PeptideAtlasiP37058
PRIDEiP37058
ProteomicsDBi55255

PTM databases

iPTMnetiP37058
PhosphoSitePlusiP37058

Expressioni

Tissue specificityi

Testis.

Gene expression databases

BgeeiENSG00000130948
CleanExiHS_HSD17B3
ExpressionAtlasiP37058 baseline and differential
GenevisibleiP37058 HS

Organism-specific databases

HPAiHPA056833

Interactioni

Protein-protein interaction databases

BioGridi109526, 11 interactors
IntActiP37058, 11 interactors
MINTiP37058
STRINGi9606.ENSP00000364412

Chemistry databases

BindingDBiP37058

Structurei

3D structure databases

ProteinModelPortaliP37058
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1014 Eukaryota
COG0300 LUCA
GeneTreeiENSGT00390000010069
HOGENOMiHOG000039237
HOVERGENiHBG005478
InParanoidiP37058
KOiK10207
OMAiPLYSMYS
OrthoDBiEOG091G06T2
PhylomeDBiP37058
TreeFamiTF314591

Family and domain databases

InterProiView protein in InterPro
IPR033281 HSD17B3
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam
PANTHERiPTHR43899:SF7 PTHR43899:SF7, 1 hit
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P37058-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGDVLEQFFI LTGLLVCLAC LAKCVRFSRC VLLNYWKVLP KSFLRSMGQW
60 70 80 90 100
AVITGAGDGI GKAYSFELAK RGLNVVLISR TLEKLEAIAT EIERTTGRSV
110 120 130 140 150
KIIQADFTKD DIYEHIKEKL AGLEIGILVN NVGMLPNLLP SHFLNAPDEI
160 170 180 190 200
QSLIHCNITS VVKMTQLILK HMESRQKGLI LNISSGIALF PWPLYSMYSA
210 220 230 240 250
SKAFVCAFSK ALQEEYKAKE VIIQVLTPYA VSTAMTKYLN TNVITKTADE
260 270 280 290 300
FVKESLNYVT IGGETCGCLA HEILAGFLSL IPAWAFYSGA FQRLLLTHYV
310
AYLKLNTKVR
Length:310
Mass (Da):34,516
Last modified:November 1, 1995 - v2
Checksum:i0643FF35ED979185
GO
Isoform 2 (identifier: P37058-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     225-274: Missing.

Note: No experimental confirmation available.
Show »
Length:260
Mass (Da):29,109
Checksum:i81CBF73E81169EF1
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01487031V → I1 PublicationCorresponds to variant dbSNP:rs2066480EnsemblClinVar.1
Natural variantiVAR_01606756A → T in MPH; Cambridge-2; affects NADPH cofactor binding. 1 PublicationCorresponds to variant dbSNP:rs119481078EnsemblClinVar.1
Natural variantiVAR_01606865S → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs747329682EnsemblClinVar.1
Natural variantiVAR_00695380R → Q in MPH; Gaza. 1 PublicationCorresponds to variant dbSNP:rs119481075EnsemblClinVar.1
Natural variantiVAR_00695480R → W in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481077EnsemblClinVar.1
Natural variantiVAR_016069130N → S in MPH; Cambridge-1; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs119481079EnsemblClinVar.1
Natural variantiVAR_075369133G → R in MPH; almost complete loss of testosterone 17-beta-dehydrogenase (NADP+) activity; no effect on protein abundance; no effect on endoplasmic reticulum location. 1 PublicationCorresponds to variant dbSNP:rs747724352EnsemblClinVar.1
Natural variantiVAR_016070176Q → P in MPH. 1 PublicationCorresponds to variant dbSNP:rs767259718Ensembl.1
Natural variantiVAR_006955203A → V in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481076EnsemblClinVar.1
Natural variantiVAR_016071205V → E in MPH. 1 PublicationCorresponds to variant dbSNP:rs372027264EnsemblClinVar.1
Natural variantiVAR_016072208F → I in MPH. 1 Publication1
Natural variantiVAR_016203215E → D in MPH. 1 PublicationCorresponds to variant dbSNP:rs115063639Ensembl.1
Natural variantiVAR_006956232S → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs28939085EnsemblClinVar.1
Natural variantiVAR_006957235M → V in MPH. 1 PublicationCorresponds to variant dbSNP:rs119481074EnsemblClinVar.1
Natural variantiVAR_016073268C → Y in MPH; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs119481080EnsemblClinVar.1
Natural variantiVAR_016074282P → L in MPH. 1 PublicationCorresponds to variant dbSNP:rs144809928EnsemblClinVar.1
Natural variantiVAR_061844289G → C. Corresponds to variant dbSNP:rs2066479EnsemblClinVar.1
Natural variantiVAR_061845289G → R. Corresponds to variant dbSNP:rs2066479EnsemblClinVar.1
Natural variantiVAR_014871289G → S2 PublicationsCorresponds to variant dbSNP:rs2066479EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056640225 – 274Missing in isoform 2. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U05659 mRNA Translation: AAC50066.1
AY341031 Genomic DNA Translation: AAP88937.1
BT019371 mRNA Translation: AAV38178.1
AL160269 Genomic DNA No translation available.
BC034281 mRNA Translation: AAH34281.1
CCDSiCCDS6716.1 [P37058-1]
PIRiS43928
RefSeqiNP_000188.1, NM_000197.1 [P37058-1]
XP_011516920.1, XM_011518618.2 [P37058-1]
XP_011516921.1, XM_011518619.2 [P37058-1]
XP_016870160.1, XM_017014671.1 [P37058-1]
XP_016870161.1, XM_017014672.1 [P37058-1]
UniGeneiHs.477

Genome annotation databases

EnsembliENST00000375262; ENSP00000364411; ENSG00000130948 [P37058-2]
ENST00000375263; ENSP00000364412; ENSG00000130948 [P37058-1]
GeneIDi3293
KEGGihsa:3293
UCSCiuc010msc.1 human [P37058-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDHB3_HUMAN
AccessioniPrimary (citable) accession number: P37058
Secondary accession number(s): Q5U0Q6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 1, 1995
Last modified: June 20, 2018
This is version 179 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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