Gene/Proteome Database (LMPD)

LMPD ID
LMP000022
Gene ID
3293
Species
Homo sapiens (Human)
Gene Name
hydroxysteroid (17-beta) dehydrogenase 3
Gene Symbol
HSD17B3
Synonyms
EDH17B3; SDR12C2
Alternate Names
testosterone 17-beta-dehydrogenase 3; 17-beta-HSD3; 17-beta-HSD 3; 17-beta-hydroxysteroid dehydrogenase type 3; testicular 17-beta-hydroxysteroid dehydrogenase; short chain dehydrogenase/reductase family 12C, member 2
Chromosome
9
Map Location
9q22
EC Number
1.1.1.64
Summary
This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for HSD17B3

Proteins

testosterone 17-beta-dehydrogenase 3
Refseq ID NP_000188
Protein GI 4557649
UniProt ID P37058
mRNA ID NM_000197
Length 310
RefSeq Status REVIEWED
MGDVLEQFFILTGLLVCLACLAKCVRFSRCVLLNYWKVLPKSFLRSMGQWAVITGAGDGIGKAYSFELAKRGLNVVLISRTLEKLEAIATEIERTTGRSVKIIQADFTKDDIYEHIKEKLAGLEIGILVNNVGMLPNLLPSHFLNAPDEIQSLIHCNITSVVKMTQLILKHMESRQKGLILNISSGIALFPWPLYSMYSASKAFVCAFSKALQEEYKAKEVIIQVLTPYAVSTAMTKYLNTNVITKTADEFVKESLNYVTIGGETCGCLAHEILAGFLSLIPAWAFYSGAFQRLLLTHYVAYLKLNTKVR

Gene Information

Entrez Gene ID
3293
Gene Name
hydroxysteroid (17-beta) dehydrogenase 3
Gene Symbol
HSD17B3
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0043231 TAS:ProtInc C intracellular membrane-bounded organelle
GO:0047045 IEA:UniProtKB-EC F testosterone 17-beta-dehydrogenase (NADP+) activity
GO:0006702 TAS:Reactome P androgen biosynthetic process
GO:0030539 TAS:ProtInc P male genitalia development
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0008202 TAS:Reactome P steroid metabolic process
GO:0061370 IEA:UniProtKB-UniPathway P testosterone biosynthetic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00140 Steroid hormone biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_11059 Androgen biosynthesis
REACT_380 Synthesis of very long-chain fatty acyl-CoAs

Domain Information

InterPro Annotations

Accession Description
IPR002347 Glucose/ribitol dehydrogenase
IPR016040 NAD(P)-binding domain
IPR002198 Short-chain dehydrogenase/reductase SDR
IPR020904 Short-chain dehydrogenase/reductase, conserved site

UniProt Annotations

Entry Information

Gene Name
hydroxysteroid (17-beta) dehydrogenase 3
Protein Entry
DHB3_HUMAN
UniProt ID
P37058
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P37058-1; Sequence=Displayed; Name=2; IsoId=P37058-2; Sequence=VSP_056640; Note=No experimental confirmation available.;
Catalytic Activity Testosterone + NADP(+) = androst-4-ene-3,17- dione + NADPH.
Disease Male pseudohermaphrodism with gynecomastia (MPH) [MIM
Function Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.
Pathway Hormone biosynthesis; testosterone biosynthesis.
Similarity Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
Tissue Specificity Testis.
Web Resource Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hsd17b3/";

Identical and Related Proteins

Unique RefSeq proteins for LMP000022 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4557649 RefSeq NP_000188 310 testosterone 17-beta-dehydrogenase 3

Identical Sequences to LMP000022 proteins

Reference Database Accession Length Protein Name
GI:4557649 EMBL CBH19319.1 310 unnamed protein product [Homo sapiens]
GI:4557649 GenBank ABL51358.1 310 Sequence 2 from patent US 7138246
GI:4557649 GenBank EAW92645.1 310 hydroxysteroid (17-beta) dehydrogenase 3 [Homo sapiens]
GI:4557649 GenBank ABM82738.1 310 hydroxysteroid (17-beta) dehydrogenase 3 [synthetic construct]
GI:4557649 GenBank ABM85921.1 310 hydroxysteroid (17-beta) dehydrogenase 3, partial [synthetic construct]
GI:4557649 GenBank AIC48984.1 310 HSD17B3, partial [synthetic construct]

Related Sequences to LMP000022 proteins

Reference Database Accession Length Protein Name
GI:4557649 RefSeq XP_001151508.1 310 PREDICTED: testosterone 17-beta-dehydrogenase 3 [Pan troglodytes]
GI:4557649 RefSeq XP_002820038.1 310 PREDICTED: testosterone 17-beta-dehydrogenase 3 isoform X1 [Pongo abelii]
GI:4557649 RefSeq XP_003260573.1 310 PREDICTED: testosterone 17-beta-dehydrogenase 3 isoform 1 [Nomascus leucogenys]
GI:4557649 RefSeq XP_004048352.1 310 PREDICTED: testosterone 17-beta-dehydrogenase 3 isoform 1 [Gorilla gorilla gorilla]
GI:4557649 RefSeq XP_007968090.1 310 PREDICTED: testosterone 17-beta-dehydrogenase 3 isoform X1 [Chlorocebus sabaeus]
GI:4557649 RefSeq XP_008961777.1 309 PREDICTED: testosterone 17-beta-dehydrogenase 3 isoform X1 [Pan paniscus]