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Q53GQ0

- DHB12_HUMAN

UniProt

Q53GQ0 - DHB12_HUMAN

Protein

Estradiol 17-beta-dehydrogenase 12

Gene

HSD17B12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 2 (02 Oct 2007)
      Previous versions | rss
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    Functioni

    Catalyzes the transformation of estrone (E1) into estradiol (E2), suggesting a central role in estrogen formation. Its strong expression in ovary and mammary gland suggest that it may constitute the major enzyme responsible for the conversion of E1 to E2 in women. Also has 3-ketoacyl-CoA reductase activity, reducing both long chain 3-ketoacyl-CoAs and long chain fatty acyl-CoAs, suggesting a role in long fatty acid elongation.2 Publications

    Catalytic activityi

    17-beta-estradiol + NAD(P)+ = estrone + NAD(P)H.

    Kineticsi

    1. KM=3.5 µM for estrone1 Publication

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei189 – 1891SubstrateBy similarity
    Active sitei202 – 2021Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi50 – 7930NADPBy similarityAdd
    BLAST

    GO - Molecular functioni

    1. estradiol 17-beta-dehydrogenase activity Source: UniProtKB-EC
    2. heparin binding Source: Ensembl
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. cellular lipid metabolic process Source: Reactome
    2. estrogen biosynthetic process Source: UniProtKB-UniPathway
    3. extracellular matrix organization Source: Ensembl
    4. fatty acid biosynthetic process Source: UniProtKB-UniPathway
    5. long-chain fatty-acyl-CoA biosynthetic process Source: Reactome
    6. positive regulation of cell-substrate adhesion Source: Ensembl
    7. small molecule metabolic process Source: Reactome
    8. triglyceride biosynthetic process Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis

    Keywords - Ligandi

    NADP

    Enzyme and pathway databases

    BRENDAi1.1.1.62. 2681.
    ReactomeiREACT_11059. Androgen biosynthesis.
    REACT_380. Synthesis of very long-chain fatty acyl-CoAs.
    SABIO-RKQ53GQ0.
    UniPathwayiUPA00094.
    UPA00769.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Estradiol 17-beta-dehydrogenase 12 (EC:1.1.1.62)
    Alternative name(s):
    17-beta-hydroxysteroid dehydrogenase 12
    Short name:
    17-beta-HSD 12
    3-ketoacyl-CoA reductase (EC:1.3.1.-)
    Short name:
    KAR
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:18646. HSD17B12.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. extracellular matrix Source: Ensembl
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi196 – 1961V → W: No effect. 1 Publication
    Mutagenesisi234 – 2341F → A: Allows the conversion of androstenedione to testosterone. 1 Publication

    Organism-specific databases

    PharmGKBiPA38618.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 312312Estradiol 17-beta-dehydrogenase 12PRO_0000248368Add
    BLAST

    Proteomic databases

    MaxQBiQ53GQ0.
    PaxDbiQ53GQ0.
    PRIDEiQ53GQ0.

    PTM databases

    PhosphoSiteiQ53GQ0.

    Expressioni

    Tissue specificityi

    Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in platelets.3 Publications

    Gene expression databases

    ArrayExpressiQ53GQ0.
    BgeeiQ53GQ0.
    CleanExiHS_HSD17B12.
    GenevestigatoriQ53GQ0.

    Organism-specific databases

    HPAiHPA016427.

    Interactioni

    Subunit structurei

    Interacts with ELOVL1 and LASS2.1 Publication

    Protein-protein interaction databases

    BioGridi119328. 13 interactions.
    IntActiQ53GQ0. 6 interactions.
    STRINGi9606.ENSP00000278353.

    Structurei

    3D structure databases

    ProteinModelPortaliQ53GQ0.
    SMRiQ53GQ0. Positions 51-294.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei4 – 2421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei182 – 20221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei271 – 29121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi308 – 3125Di-lysine motif

    Domaini

    The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.By similarity

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0300.
    HOGENOMiHOG000039237.
    HOVERGENiHBG005478.
    InParanoidiQ53GQ0.
    KOiK10251.
    OMAiKHGMKVV.
    PhylomeDBiQ53GQ0.
    TreeFamiTF314591.

    Family and domain databases

    Gene3Di3.40.50.720. 1 hit.
    InterProiIPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    IPR020904. Sc_DH/Rdtase_CS.
    [Graphical view]
    PfamiPF00106. adh_short. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000126. 11-beta-HSD1. 1 hit.
    PRINTSiPR00081. GDHRDH.
    PR00080. SDRFAMILY.
    PROSITEiPS00061. ADH_SHORT. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q53GQ0-1) [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

    MESALPAAGF LYWVGAGTVA YLALRISYSL FTALRVWGVG NEAGVGPGLG    50
    EWAVVTGSTD GIGKSYAEEL AKHGMKVVLI SRSKDKLDQV SSEIKEKFKV 100
    ETRTIAVDFA SEDIYDKIKT GLAGLEIGIL VNNVGMSYEY PEYFLDVPDL 150
    DNVIKKMINI NILSVCKMTQ LVLPGMVERS KGAILNISSG SGMLPVPLLT 200
    IYSATKTFVD FFSQCLHEEY RSKGVFVQSV LPYFVATKLA KIRKPTLDKP 250
    SPETFVKSAI KTVGLQSRTN GYLIHALMGS IISNLPSWIY LKIVMNMNKS 300
    TRAHYLKKTK KN 312
    Length:312
    Mass (Da):34,324
    Last modified:October 2, 2007 - v2
    Checksum:i8518336D7F514E50
    GO
    Isoform 2 (identifier: Q53GQ0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         95-98: KEKF → SNYT
         99-312: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:98
    Mass (Da):10,342
    Checksum:i2EEE844E7FDC97A1
    GO

    Sequence cautioni

    The sequence AK027882 differs from that shown. Reason: Frameshift at position 92.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti280 – 2801S → L.3 Publications
    Corresponds to variant rs11555762 [ dbSNP | Ensembl ].
    VAR_027277

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei95 – 984KEKF → SNYT in isoform 2. 1 PublicationVSP_056380
    Alternative sequencei99 – 312214Missing in isoform 2. 1 PublicationVSP_056381Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF078850 mRNA. Translation: AAD44482.1.
    AK027882 mRNA. No translation available.
    AK074952 mRNA. Translation: BAG52039.1.
    AK075216 mRNA. Translation: BAG52086.1.
    AK222881 mRNA. Translation: BAD96601.1.
    AK292625 mRNA. Translation: BAF85314.1.
    AC023085 Genomic DNA. No translation available.
    AC068205 Genomic DNA. No translation available.
    AC087521 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68082.1.
    CH471064 Genomic DNA. Translation: EAW68087.1.
    CH471064 Genomic DNA. Translation: EAW68088.1.
    BC012043 mRNA. Translation: AAH12043.1.
    BC012536 mRNA. Translation: AAH12536.1.
    CCDSiCCDS7905.1.
    RefSeqiNP_057226.1. NM_016142.2.
    UniGeneiHs.132513.

    Genome annotation databases

    EnsembliENST00000278353; ENSP00000278353; ENSG00000149084.
    ENST00000395700; ENSP00000379052; ENSG00000149084.
    GeneIDi51144.
    KEGGihsa:51144.
    UCSCiuc001mxq.4. human.

    Polymorphism databases

    DMDMi158931120.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF078850 mRNA. Translation: AAD44482.1 .
    AK027882 mRNA. No translation available.
    AK074952 mRNA. Translation: BAG52039.1 .
    AK075216 mRNA. Translation: BAG52086.1 .
    AK222881 mRNA. Translation: BAD96601.1 .
    AK292625 mRNA. Translation: BAF85314.1 .
    AC023085 Genomic DNA. No translation available.
    AC068205 Genomic DNA. No translation available.
    AC087521 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68082.1 .
    CH471064 Genomic DNA. Translation: EAW68087.1 .
    CH471064 Genomic DNA. Translation: EAW68088.1 .
    BC012043 mRNA. Translation: AAH12043.1 .
    BC012536 mRNA. Translation: AAH12536.1 .
    CCDSi CCDS7905.1.
    RefSeqi NP_057226.1. NM_016142.2.
    UniGenei Hs.132513.

    3D structure databases

    ProteinModelPortali Q53GQ0.
    SMRi Q53GQ0. Positions 51-294.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119328. 13 interactions.
    IntActi Q53GQ0. 6 interactions.
    STRINGi 9606.ENSP00000278353.

    Chemistry

    ChEMBLi CHEMBL5998.

    PTM databases

    PhosphoSitei Q53GQ0.

    Polymorphism databases

    DMDMi 158931120.

    Proteomic databases

    MaxQBi Q53GQ0.
    PaxDbi Q53GQ0.
    PRIDEi Q53GQ0.

    Protocols and materials databases

    DNASUi 51144.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000278353 ; ENSP00000278353 ; ENSG00000149084 .
    ENST00000395700 ; ENSP00000379052 ; ENSG00000149084 .
    GeneIDi 51144.
    KEGGi hsa:51144.
    UCSCi uc001mxq.4. human.

    Organism-specific databases

    CTDi 51144.
    GeneCardsi GC11P043577.
    HGNCi HGNC:18646. HSD17B12.
    HPAi HPA016427.
    MIMi 609574. gene.
    neXtProti NX_Q53GQ0.
    PharmGKBi PA38618.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0300.
    HOGENOMi HOG000039237.
    HOVERGENi HBG005478.
    InParanoidi Q53GQ0.
    KOi K10251.
    OMAi KHGMKVV.
    PhylomeDBi Q53GQ0.
    TreeFami TF314591.

    Enzyme and pathway databases

    UniPathwayi UPA00094 .
    UPA00769 .
    BRENDAi 1.1.1.62. 2681.
    Reactomei REACT_11059. Androgen biosynthesis.
    REACT_380. Synthesis of very long-chain fatty acyl-CoAs.
    SABIO-RK Q53GQ0.

    Miscellaneous databases

    GeneWikii HSD17B12.
    GenomeRNAii 51144.
    NextBioi 54008.
    PROi Q53GQ0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q53GQ0.
    Bgeei Q53GQ0.
    CleanExi HS_HSD17B12.
    Genevestigatori Q53GQ0.

    Family and domain databases

    Gene3Di 3.40.50.720. 1 hit.
    InterProi IPR002198. DH_sc/Rdtase_SDR.
    IPR002347. Glc/ribitol_DH.
    IPR016040. NAD(P)-bd_dom.
    IPR020904. Sc_DH/Rdtase_CS.
    [Graphical view ]
    Pfami PF00106. adh_short. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000126. 11-beta-HSD1. 1 hit.
    PRINTSi PR00081. GDHRDH.
    PR00080. SDRFAMILY.
    PROSITEi PS00061. ADH_SHORT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human steroid dehydrogenase homologue, complete cds."
      Liu T., Zhang J., Fu G., Zhang Q., Ye M., Zhou J., Wu J., Shen Y., Yu M., Chen S., Mao M., Chen Z.
      Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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] (ISOFORM 1), VARIANT LEU-280.
      Tissue: Liver, Placenta, Thymus and Thyroid.
    3. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-280.
      Tissue: Liver.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-280.
    6. "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] (ISOFORMS 1 AND 2).
      Tissue: Brain and Pancreas.
    7. Bienvenut W.V.
      Submitted (JUN-2005) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 26-35; 65-72; 104-117; 157-179 AND 207-221, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: B-cell lymphoma.
    8. "Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade."
      Moon Y.-A., Horton J.D.
      J. Biol. Chem. 278:7335-7343(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    9. "Platelets express steroidogenic 17beta-hydroxysteroid dehydrogenases. Distinct profiles predict the essential thrombocythemic phenotype."
      Gnatenko D.V., Cupit L.D., Huang E.C., Dhundale A., Perrotta P.L., Bahou W.F.
      Thromb. Haemost. 94:412-421(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    10. "Characterization of type 12 17beta-hydroxysteroid dehydrogenase, an isoform of type 3 17beta-hydroxysteroid dehydrogenase responsible for estradiol formation in women."
      Luu-The V., Tremblay P., Labrie F.
      Mol. Endocrinol. 20:437-443(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY, MUTAGENESIS OF VAL-196 AND PHE-234.
    11. Cited for: INTERACTION WITH ELOVL1 AND LASS2.
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiDHB12_HUMAN
    AccessioniPrimary (citable) accession number: Q53GQ0
    Secondary accession number(s): A8K9B0
    , D3DR23, Q96EA9, Q96JU2, Q9Y6G8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 5, 2006
    Last sequence update: October 2, 2007
    Last modified: October 1, 2014
    This is version 98 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, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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