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Q53GQ0

- DHB12_HUMAN

UniProt

Q53GQ0 - DHB12_HUMAN

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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

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

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
Complete GO annotation...

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

Topology

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

GO - Cellular componenti

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

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

BgeeiQ53GQ0.
CleanExiHS_HSD17B12.
ExpressionAtlasiQ53GQ0. baseline and differential.
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 53-280.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00390000010069.
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

        10         20         30         40         50
MESALPAAGF LYWVGAGTVA YLALRISYSL FTALRVWGVG NEAGVGPGLG
60 70 80 90 100
EWAVVTGSTD GIGKSYAEEL AKHGMKVVLI SRSKDKLDQV SSEIKEKFKV
110 120 130 140 150
ETRTIAVDFA SEDIYDKIKT GLAGLEIGIL VNNVGMSYEY PEYFLDVPDL
160 170 180 190 200
DNVIKKMINI NILSVCKMTQ LVLPGMVERS KGAILNISSG SGMLPVPLLT
210 220 230 240 250
IYSATKTFVD FFSQCLHEEY RSKGVFVQSV LPYFVATKLA KIRKPTLDKP
260 270 280 290 300
SPETFVKSAI KTVGLQSRTN GYLIHALMGS IISNLPSWIY LKIVMNMNKS
310
TRAHYLKKTK KN
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. Curated

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:
EMBLi
GenBanki
DDBJi
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. [Q53GQ0-1]
RefSeqiNP_057226.1. NM_016142.2. [Q53GQ0-1]
UniGeneiHs.132513.

Genome annotation databases

EnsembliENST00000278353; ENSP00000278353; ENSG00000149084. [Q53GQ0-1]
ENST00000395700; ENSP00000379052; ENSG00000149084. [Q53GQ0-2]
GeneIDi51144.
KEGGihsa:51144.
UCSCiuc001mxq.4. human. [Q53GQ0-1]

Polymorphism databases

DMDMi158931120.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [Q53GQ0-1 ]
RefSeqi NP_057226.1. NM_016142.2. [Q53GQ0-1 ]
UniGenei Hs.132513.

3D structure databases

ProteinModelPortali Q53GQ0.
SMRi Q53GQ0. Positions 53-280.
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 . [Q53GQ0-1 ]
ENST00000395700 ; ENSP00000379052 ; ENSG00000149084 . [Q53GQ0-2 ]
GeneIDi 51144.
KEGGi hsa:51144.
UCSCi uc001mxq.4. human. [Q53GQ0-1 ]

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.
GeneTreei ENSGT00390000010069.
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

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

Gene expression databases

Bgeei Q53GQ0.
CleanExi HS_HSD17B12.
ExpressionAtlasi Q53GQ0. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 100 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