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P14060

- 3BHS1_HUMAN

UniProt

P14060 - 3BHS1_HUMAN

Protein

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

Gene

HSD3B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 155 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    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. Efficiently catalyzes the transformation of pregnenolone to progesterone, 17-alpha-hydroxypregnenolone to 17-alpha-hydroxyprogesterone, DHEA to 4-androstenedione, dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone to androstenedione and 5-alpha-androstan-3 beta,17 beta-diol to 5-alpha-dihydrotestosterone.2 Publications

    Catalytic activityi

    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.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei155 – 1551Proton acceptorBy similarity
    Binding sitei159 – 1591NADBy similarity

    GO - Molecular functioni

    1. 3-beta-hydroxy-delta5-steroid dehydrogenase activity Source: UniProtKB
    2. steroid delta-isomerase activity Source: UniProtKB

    GO - Biological processi

    1. androgen biosynthetic process Source: UniProtKB
    2. estrogen biosynthetic process Source: UniProtKB
    3. glucocorticoid biosynthetic process Source: Reactome
    4. mineralocorticoid biosynthetic process Source: Reactome
    5. small molecule metabolic process Source: Reactome
    6. steroid biosynthetic process Source: UniProtKB
    7. steroid metabolic process Source: Reactome

    Keywords - Molecular functioni

    Isomerase, Oxidoreductase

    Keywords - Biological processi

    Steroidogenesis

    Keywords - Ligandi

    NAD

    Enzyme and pathway databases

    BioCyciMetaCyc:HS08829-MONOMER.
    BRENDAi1.1.1.145. 2681.
    ReactomeiREACT_11036. Glucocorticoid biosynthesis.
    REACT_11047. Mineralocorticoid biosynthesis.
    REACT_11059. Androgen biosynthesis.
    SABIO-RKP14060.
    UniPathwayiUPA00062.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1
    Alternative name(s):
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I
    Short name:
    3-beta-HSD I
    Trophoblast antigen FDO161G
    Including the following 2 domains:
    3-beta-hydroxy-Delta(5)-steroid dehydrogenase (EC:1.1.1.145)
    Alternative name(s):
    3-beta-hydroxy-5-ene steroid dehydrogenase
    Progesterone reductase
    Steroid Delta-isomerase (EC:5.3.3.1)
    Alternative name(s):
    Delta-5-3-ketosteroid isomerase
    Gene namesi
    Name:HSD3B1
    Synonyms:3BH, HSDB3A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:5217. HSD3B1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW
    3. mitochondrial inner membrane Source: UniProtKB
    4. mitochondrial intermembrane space Source: UniProtKB
    5. smooth endoplasmic reticulum membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29486.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 3733723 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1PRO_0000087774Add
    BLAST

    Proteomic databases

    PaxDbiP14060.
    PRIDEiP14060.

    PTM databases

    PhosphoSiteiP14060.

    Expressioni

    Tissue specificityi

    Placenta and skin. Predominantly expressed in mammary gland tissue.

    Gene expression databases

    ArrayExpressiP14060.
    BgeeiP14060.
    CleanExiHS_HSD3B1.
    GenevestigatoriP14060.

    Organism-specific databases

    HPAiHPA043261.
    HPA043264.
    HPA044028.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000358421.

    Structurei

    3D structure databases

    ProteinModelPortaliP14060.
    SMRiP14060. Positions 7-159.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei288 – 30821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the 3-beta-HSD family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0451.
    HOGENOMiHOG000167989.
    HOVERGENiHBG000014.
    InParanoidiP14060.
    KOiK00070.
    PhylomeDBiP14060.
    TreeFamiTF343138.

    Family and domain databases

    Gene3Di3.40.50.720. 2 hits.
    InterProiIPR002225. 3Beta_OHSteriod_DH/Estase.
    IPR016040. NAD(P)-bd_dom.
    [Graphical view]
    PfamiPF01073. 3Beta_HSD. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P14060-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTGWSCLVTG AGGFLGQRII RLLVKEKELK EIRVLDKAFG PELREEFSKL    50
    QNKTKLTVLE GDILDEPFLK RACQDVSVII HTACIIDVFG VTHRESIMNV 100
    NVKGTQLLLE ACVQASVPVF IYTSSIEVAG PNSYKEIIQN GHEEEPLENT 150
    WPAPYPHSKK LAEKAVLAAN GWNLKNGGTL YTCALRPMYI YGEGSRFLSA 200
    SINEALNNNG ILSSVGKFST VNPVYVGNVA WAHILALRAL QDPKKAPSIR 250
    GQFYYISDDT PHQSYDNLNY TLSKEFGLRL DSRWSFPLSL MYWIGFLLEI 300
    VSFLLRPIYT YRPPFNRHIV TLSNSVFTFS YKKAQRDLAY KPLYSWEEAK 350
    QKTVEWVGSL VDRHKETLKS KTQ 373
    Length:373
    Mass (Da):42,252
    Last modified:January 23, 2007 - v2
    Checksum:i2C76616E7EA7433A
    GO

    Sequence cautioni

    The sequence AAA36001.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541T → I.
    Corresponds to variant rs3088283 [ dbSNP | Ensembl ].
    VAR_048096
    Natural varianti71 – 711R → I.
    Corresponds to variant rs4986952 [ dbSNP | Ensembl ].
    VAR_048097
    Natural varianti79 – 791I → V.1 Publication
    Corresponds to variant rs6201 [ dbSNP | Ensembl ].
    VAR_014174
    Natural varianti90 – 901G → S.
    Corresponds to variant rs6684974 [ dbSNP | Ensembl ].
    VAR_048098
    Natural varianti286 – 2861F → L.1 Publication
    Corresponds to variant rs6205 [ dbSNP | Ensembl ].
    VAR_014175
    Natural varianti367 – 3671T → N.2 Publications
    Corresponds to variant rs1047303 [ dbSNP | Ensembl ].
    VAR_000005

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M27137 mRNA. Translation: AAA36015.1.
    M28392, M28162, M28391 Genomic DNA. Translation: AAA36001.1. Sequence problems.
    X53321 mRNA. Translation: CAA37408.1.
    M35493 mRNA. Translation: AAA51538.1.
    M63397, M63395, M63396 Genomic DNA. Translation: AAA51662.1.
    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.
    CCDSiCCDS903.1.
    PIRiA36551. DEHUHS.
    RefSeqiNP_000853.1. NM_000862.2.
    UniGeneiHs.364941.

    Genome annotation databases

    EnsembliENST00000369413; ENSP00000358421; ENSG00000203857.
    ENST00000528909; ENSP00000432268; ENSG00000203857.
    GeneIDi3283.
    KEGGihsa:3283.
    UCSCiuc001ehv.1. human.

    Polymorphism databases

    DMDMi112767.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M27137 mRNA. Translation: AAA36015.1 .
    M28392 , M28162 , M28391 Genomic DNA. Translation: AAA36001.1 . Sequence problems.
    X53321 mRNA. Translation: CAA37408.1 .
    M35493 mRNA. Translation: AAA51538.1 .
    M63397 , M63395 , M63396 Genomic DNA. Translation: AAA51662.1 .
    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 .
    CCDSi CCDS903.1.
    PIRi A36551. DEHUHS.
    RefSeqi NP_000853.1. NM_000862.2.
    UniGenei Hs.364941.

    3D structure databases

    ProteinModelPortali P14060.
    SMRi P14060. Positions 7-159.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000358421.

    Chemistry

    BindingDBi P14060.
    ChEMBLi CHEMBL1958.
    DrugBanki DB01108. Trilostane.

    PTM databases

    PhosphoSitei P14060.

    Polymorphism databases

    DMDMi 112767.

    Proteomic databases

    PaxDbi P14060.
    PRIDEi P14060.

    Protocols and materials databases

    DNASUi 3283.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369413 ; ENSP00000358421 ; ENSG00000203857 .
    ENST00000528909 ; ENSP00000432268 ; ENSG00000203857 .
    GeneIDi 3283.
    KEGGi hsa:3283.
    UCSCi uc001ehv.1. human.

    Organism-specific databases

    CTDi 3283.
    GeneCardsi GC01P120049.
    H-InvDB HIX0028579.
    HGNCi HGNC:5217. HSD3B1.
    HPAi HPA043261.
    HPA043264.
    HPA044028.
    MIMi 109715. gene.
    neXtProti NX_P14060.
    PharmGKBi PA29486.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0451.
    HOGENOMi HOG000167989.
    HOVERGENi HBG000014.
    InParanoidi P14060.
    KOi K00070.
    PhylomeDBi P14060.
    TreeFami TF343138.

    Enzyme and pathway databases

    UniPathwayi UPA00062 .
    BioCyci MetaCyc:HS08829-MONOMER.
    BRENDAi 1.1.1.145. 2681.
    Reactomei REACT_11036. Glucocorticoid biosynthesis.
    REACT_11047. Mineralocorticoid biosynthesis.
    REACT_11059. Androgen biosynthesis.
    SABIO-RK P14060.

    Miscellaneous databases

    GeneWikii HSD3B1.
    GenomeRNAii 3283.
    NextBioi 13031.
    PROi P14060.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P14060.
    Bgeei P14060.
    CleanExi HS_HSD3B1.
    Genevestigatori P14060.

    Family and domain databases

    Gene3Di 3.40.50.720. 2 hits.
    InterProi IPR002225. 3Beta_OHSteriod_DH/Estase.
    IPR016040. NAD(P)-bd_dom.
    [Graphical view ]
    Pfami PF01073. 3Beta_HSD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 2-30.
    2. "Human 3 beta-hydroxysteroid dehydrogenase/delta 5-->4-isomerase 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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
      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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
    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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASN-367.
      Tissue: Skin.
    9. Cited for: VARIANTS VAL-79 AND LEU-286.

    Entry informationi

    Entry namei3BHS1_HUMAN
    AccessioniPrimary (citable) accession number: P14060
    Secondary accession number(s): A8K691, Q14545, Q8IV65
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 1, 1990
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 155 of the entry and version 2 of the sequence. [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, Direct protein sequencing, Multifunctional enzyme, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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

    External Data

    Dasty 3