3-beta-hydroxy-Delta(5)-steroid dehydrogenase
     (EC 1.1.1.145)
     (3-beta-hydroxy-5-ene steroid dehydrogenase)
     (Progesterone reductase)
Steroid Delta-isomerase
     (EC 5.3.3.1)
     (Delta-5-3-ketosteroid isomerase)

Gene name

	Name:	HSD3B1
	Synonyms:	3BH, HSDB3A

From

Homo sapiens (Human)

[TaxID: 9606]

Taxonomy

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Protein existence

1: Evidence at protein level;

References

[1]	NUCLEOTIDE SEQUENCE [MRNA], AND PROTEIN SEQUENCE OF 2-30. PubMed=2779585 [NCBI, ExPASy, EBI, Israel, Japan] Luu-The V., Lachance Y., Labrie F., Leblanc G., Thomas J.L., Strickler R.C., Labrie C.; "Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase."; Mol. Endocrinol. 3:1310-1312(1989).
[2]	NUCLEOTIDE SEQUENCE [MRNA]. TISSUE=Placenta; PubMed=2139411 [NCBI, ExPASy, EBI, Israel, Japan] Lorence M.C., Murry B.A., Trant J.M., Mason J.I.; "Human 3 beta-hydroxysteroid dehydrogenase/delta 5-->4isomerase from placenta: expression in nonsteroidogenic cells of a protein that catalyzes the dehydrogenation/isomerization of C21 and C19 steroids."; Endocrinology 126:2493-2498(1990).
[3]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. PubMed=2082186 [NCBI, ExPASy, EBI, Israel, Japan] Lorence M.C., Corbin C.J., Kamimura N., Mahendroo M.S., Mason J.I.; "Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5-->4-isomerase."; Mol. Endocrinol. 4:1850-1855(1990).
[4]	NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ASN-367. PubMed=2243100 [NCBI, ExPASy, EBI, Israel, Japan] Lachance Y., Luu-The V., Labrie C., Simard J., Dumont M., Launoit Y.D., Guerin S., Leblanc G., Labrie F.; "Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells."; J. Biol. Chem. 265:20469-20475(1990).
[5]	NUCLEOTIDE SEQUENCE [MRNA]. TISSUE=Placenta; PubMed=1920284 [NCBI, ExPASy, EBI, Israel, Japan] Nickson D.A., McBride M.W., Zeinali S., Hawes C.S., Petropoulos A., Mueller U.W., Sutcliffe R.G.; "Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase."; J. Reprod. Fertil. 93:149-156(1991).
[6]	NUCLEOTIDE SEQUENCE [MRNA]. DOI=10.1111/1523-1747.ep12616131; PubMed=1401999 [NCBI, ExPASy, EBI, Israel, Japan] Dumont M., Van L.T., Dupont E., Pelletier G., Labrie F.; "Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin."; J. Invest. Dermatol. 99:415-421(1992).
[7]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASN-367. TISSUE=Skin; 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).
[8]	VARIANTS VAL-79 AND LEU-286. DOI=10.1038/10290; PubMed=10391209 [NCBI, ExPASy, EBI, Israel, Japan] Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.; "Characterization of single-nucleotide polymorphisms in coding regions of human genes."; Nat. Genet. 22:231-238(1999).
[9]	ERRATUM. Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.; Nat. Genet. 23:373-373(1999).

Comments

FUNCTION: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
CATALYTIC ACTIVITY: A 3-beta-hydroxy-Delta⁵-steroid + NAD⁺ = a 3-oxo-Delta⁵-steroid + NADH.
CATALYTIC ACTIVITY: A 3-oxo-Delta⁵-steroid = a 3-oxo-Delta⁴-steroid.
PATHWAY: Lipid metabolism; steroid biosynthesis .
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein.
TISSUE SPECIFICITY: Placenta and skin. Predominantly expressed in mammary gland tissue.
SIMILARITY: Belongs to the 3-beta-HSD family.
SEQUENCE CAUTION:
- Sequence=AAA36001.1; Type=Erroneous gene model prediction;

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

M27137; AAA36015.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X53321; CAA37408.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M35493; AAA51538.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M63397; AAA51662.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M63395; AAA51662.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M63396; AAA51662.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M28392; AAA36001.1; ALT_SEQ; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M28162; AAA36001.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M28391; AAA36001.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
M38180; AAA51831.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X55997; CAA39469.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S45679; AAB23543.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC031999; AAH31999.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

A36551; DEHUHS.

NP_000853.1; -.

3D structure databases

ModBase

P14060.

Enzyme and pathway databases

Reactome

REACT_602; Lipid and lipoprotein metabolism.

Organism-specific databases

H-InvDB

HIX0000948; -.
HIX0057008; -.

HGNC:5217; HSD3B1.

109715; gene. [NCBI / EBI]

PharmGKB

PA29486; -.

GeneCards

P14060.

Gene expression databases

ArrayExpress

P14060; -.

CleanEx

HS_HSD3B1; -.

GermOnline

ENSG00000203857; Homo sapiens.

Ontologies

GO:0005792;	Cellular component: microsome (inferred from direct assay from UniProtKB).
GO:0005743;	Cellular component: mitochondrial inner membrane (inferred from direct assay from UniProtKB).
GO:0005758;	Cellular component: mitochondrial intermembrane space (inferred from direct assay from UniProtKB).
GO:0030868;	Cellular component: smooth endoplasmic reticulum membrane (inferred from sequence or structural similarity from UniProtKB).
GO:0003854;	Molecular function: 3-beta-hydroxy-delta5-steroid dehydrogenase activity (inferred from sequence or structural similarity from UniProtKB).
GO:0004769;	Molecular function: steroid delta-isomerase activity (inferred from sequence or structural similarity from UniProtKB).
GO:0006702;	Biological process: androgen biosynthetic process (traceable author statement from UniProtKB).
GO:0006703;	Biological process: estrogen biosynthetic process (traceable author statement from UniProtKB).
QuickGo view.

Family and domain databases

InterPro

IPR002225; 3Beta_OHSteriod_DHase/Estase.
IPR016040; NAD(P)-bd.
Graphical view of domain structure.

Gene3D

G3DSA:3.40.50.720; NAD(P)-bd; 1.

Pfam

PF01073; 3Beta_HSD; 1.
Pfam graphical view of domain structure.

BLOCKS

P14060.

Genome annotation databases

Ensembl

ENSG00000203857; Homo sapiens. [Contig view]

GeneID

3283; -.

KEGG

hsa:3283; -.

Phylogenomic databases

HOVERGEN

P14060; -.

Other

DrugBank

DB00157; NADH.
DB01108; Trilostane.

LinkHub

P14060; -.

SOURCE

HSD3B1; Homo sapiens.

ProtoNet

P14060.

UniRef

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

Keywords

Direct protein sequencing; Endoplasmic reticulum; Isomerase; Membrane; Mitochondrion; Multifunctional enzyme; NAD; Oxidoreductase; Polymorphism; Steroidogenesis; Transmembrane.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`INIT_MET`	`1 1`		`Removed.`
`CHAIN`	`2 373`	`372`	`3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1.`	`PRO_0000087774`
`TRANSMEM`	`288 308`	`21`	`Potential.`
`VARIANT`	`79 79`	`1`	`I -> V (in dbSNP:rs6201 [NCBI]).`	`VAR_014174`
`VARIANT`	`286 286`	`1`	`F -> L (in dbSNP:rs6205 [NCBI]).`	`VAR_014175`
`VARIANT`	`367 367`	`1`	`T -> N (in dbSNP:rs1047303 [NCBI]).`	`VAR_000005`

Sequence information

Length: 373 AA [This is the length of the unprocessed precursor]

Molecular weight: 42252 Da [This is the MW of the unprocessed precursor]

CRC64: 2C76616E7EA7433A [This is a checksum on the sequence]

        10         20         30         40         50         60 
MTGWSCLVTG AGGFLGQRII RLLVKEKELK EIRVLDKAFG PELREEFSKL QNKTKLTVLE 

        70         80         90        100        110        120 
GDILDEPFLK RACQDVSVII HTACIIDVFG VTHRESIMNV NVKGTQLLLE ACVQASVPVF 

       130        140        150        160        170        180 
IYTSSIEVAG PNSYKEIIQN GHEEEPLENT WPAPYPHSKK LAEKAVLAAN GWNLKNGGTL 

       190        200        210        220        230        240 
YTCALRPMYI YGEGSRFLSA SINEALNNNG ILSSVGKFST VNPVYVGNVA WAHILALRAL 

       250        260        270        280        290        300 
QDPKKAPSIR GQFYYISDDT PHQSYDNLNY TLSKEFGLRL DSRWSFPLSL MYWIGFLLEI 

       310        320        330        340        350        360 
VSFLLRPIYT YRPPFNRHIV TLSNSVFTFS YKKAQRDLAY KPLYSWEEAK QKTVEWVGSL 

       370 
VDRHKETLKS KTQ

P14060 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