3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

Names and origin

Protein names

Recommended name:
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1
      Short name=3-beta-HSD I
Alternative name(s):
    Trophoblast antigen FDO161G
Including the following 2 domains:
    1- Recommended name:
            3-beta-hydroxy-Delta(5)-steroid dehydrogenase
              EC=1.1.1.145
        Alternative name(s):
            3-beta-hydroxy-5-ene steroid dehydrogenase
            Progesterone reductase
    2- Recommended name:
            Steroid Delta-isomerase
              EC=5.3.3.1
        Alternative name(s):
            Delta-5-3-ketosteroid isomerase

Gene names

Name:	HSD3B1
Synonyms:	3BH, HSDB3A

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

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Protein attributes

Sequence length	373 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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General annotation (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-Delta(5)-steroid + NAD⁺ = a 3-oxo-Delta(5)-steroid + NADH. A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-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.
Sequence similarities	Belongs to the 3-beta-HSD family.
Sequence caution	The sequence AAA36001.1 differs from that shown. Reason: Erroneous gene model prediction.

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Ontologies

Keywords
Biological process	Steroidogenesis
Cellular component	Endoplasmic reticulum Membrane Mitochondrion
Coding sequence diversity	Polymorphism
Domain	Transmembrane
Ligand	NAD
Molecular function	Isomerase Oxidoreductase
Technical term	Direct protein sequencing Multifunctional enzyme
Gene Ontology (GO)
Biological process	C21-steroid hormone biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW androgen biosynthetic process Traceable author statement. Source: UniProtKB estrogen biosynthetic process Traceable author statement. Source: UniProtKB oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW microsome Inferred from direct assay. Source: UniProtKB mitochondrial inner membrane Inferred from direct assay. Source: UniProtKB mitochondrial intermembrane space Inferred from direct assay. Source: UniProtKB smooth endoplasmic reticulum membrane Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	3-beta-hydroxy-delta5-steroid dehydrogenase activity Ref.6 Inferred from sequence or structural similarity. Source: UniProtKB binding Inferred from electronic annotation. Source: InterPro steroid delta-isomerase activity Ref.6 Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

Removed Ref.1

Chain

2 – 373

372

3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

PRO_0000087774

Regions

Transmembrane

288 – 308

21

Potential

Sites

Active site

155

1

Proton acceptor By similarity

Binding site

159

1

NAD By similarity

Natural variations

Natural variant

54

1

T → I: dbSNP rs3088283.

VAR_048096

Natural variant

71

1

R → I: dbSNP rs4986952.

VAR_048097

Natural variant

79

1

I → V: dbSNP rs6201. Ref.9

VAR_014174

Natural variant

90

1

G → S: dbSNP rs6684974.

VAR_048098

Natural variant

286

1

F → L: dbSNP rs6205. Ref.9

VAR_014175

Natural variant

367

1

T → N: dbSNP rs1047303. Ref.4 Ref.8

VAR_000005

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Sequences

Sequence

Length

Mass (Da)

Tools

P14060-1 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 2C76616E7EA7433A
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FASTA

373

42,252

        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

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase." Luu-The V., Lachance Y., Labrie F., Leblanc G., Thomas J.L., Strickler R.C., Labrie C. Mol. Endocrinol. 3:1310-1312(1989) [PubMed: 2779585] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 2-30.
[2]	"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." Lorence M.C., Murry B.A., Trant J.M., Mason J.I. Endocrinology 126:2493-2498(1990) [PubMed: 2139411] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Placenta.
[3]	"Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5-->4-isomerase." Lorence M.C., Corbin C.J., Kamimura N., Mahendroo M.S., Mason J.I. Mol. Endocrinol. 4:1850-1855(1990) [PubMed: 2082186] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells." Lachance Y., Luu-The V., Labrie C., Simard J., Dumont M., Launoit Y.D., Guerin S., Leblanc G., Labrie F. J. Biol. Chem. 265:20469-20475(1990) [PubMed: 2243100] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-367.
[5]	"Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase." Nickson D.A., McBride M.W., Zeinali S., Hawes C.S., Petropoulos A., Mueller U.W., Sutcliffe R.G. J. Reprod. Fertil. 93:149-156(1991) [PubMed: 1920284] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Placenta.
[6]	"Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin." Dumont M., Van L.T., Dupont E., Pelletier G., Labrie F. J. Invest. Dermatol. 99:415-421(1992) [PubMed: 1401999] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[7]	"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. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[8]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASN-367. Tissue: Skin.
[9]	"Characterization of single-nucleotide polymorphisms in coding regions of human genes." 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. 22:231-238(1999) [PubMed: 10391209] [Abstract] Cited for: VARIANTS VAL-79 AND LEU-286.
[10]	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)
+	Additional computationally mapped references.

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Cross-references

Sequence databases
	M27137 mRNA. Translation: AAA36015.1. X53321 mRNA. Translation: CAA37408.1. M35493 mRNA. Translation: AAA51538.1. M63397, M63395, M63396 Genomic DNA. Translation: AAA51662.1. M28392, M28162, M28391 Genomic DNA. Translation: AAA36001.1. Sequence problems. M38180 Genomic DNA. Translation: AAA51831.1. X55997 mRNA. Translation: CAA39469.1. S45679 mRNA. Translation: AAB23543.1. AK291556 mRNA. Translation: BAF84245.1. BC031999 mRNA. Translation: AAH31999.1.
IPI	IPI00843838.
PIR	DEHUHS. A36551.
RefSeq	NP_000853.1.
UniGene	Hs.364941
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	P14060.
Genome annotation databases
Ensembl	ENSG00000203857. Homo sapiens. [Contig view]
GeneID	3283.
KEGG	hsa:3283.
Organism-specific databases
GeneCards	GC01P119852.
H-InvDB	HIX0000948. HIX0057008.
HGNC	HGNC:5217. HSD3B1.
MIM	109715. gene.
PharmGKB	PA29486.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P14060.
Enzyme and pathway databases
BRENDA	1.1.1.145. 247. 5.3.3.1. 247.
Reactome	REACT_602. Lipid and lipoprotein metabolism.
Gene expression databases
ArrayExpress	P14060.
Bgee	P14060.
CleanEx	HS_HSD3B1.
GermOnline	ENSG00000203857. Homo sapiens.
Family and domain databases
InterPro	IPR002225. 3Beta_OHSteriod_DH/Estase. IPR016040. NAD(P)-bd_dom. [Graphical view]
Gene3D	G3DSA:3.40.50.720. NAD(P)-bd. 1 hit.
Pfam	PF01073. 3Beta_HSD. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00157. NADH. DB01108. Trilostane.
NextBio	13031.
SOURCE	Search...

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Entry information

Entry name

3BHS1_HUMAN

Accession

Primary (citable) accession number: P14060
Secondary accession number(s): A8K691, Q14545, Q8IV65

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 1, 1990
Last sequence update:	January 23, 2007
Last modified:	June 16, 2009
This is version 102 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 1

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Natural variations

Sequences

References

Cross-references

Sequence databases

3D structure databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents