Gene/Proteome Database (LMPD)

LMPD ID
LMP006006
Gene ID
51144
Species
Homo sapiens (Human)
Gene Name
hydroxysteroid (17-beta) dehydrogenase 12
Gene Symbol
HSD17B12
Synonyms
KAR; SDR12C1
Alternate Names
estradiol 17-beta-dehydrogenase 12; 17-beta-HSD 12; 17beta-HSD type 12; 3-ketoacyl-CoA reductase; steroid dehydrogenase homolog; 17-beta-hydroxysteroid dehydrogenase 12; short chain dehydrogenase/reductase family 12C, member 1
Chromosome
11
Map Location
11p11.2
EC Number
1.1.1.62
Summary
This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
Orthologs
View orthologs and multiple alignments for HSD17B12

Proteins

estradiol 17-beta-dehydrogenase 12
Refseq ID NP_057226
Protein GI 7705855
UniProt ID Q53GQ0
mRNA ID NM_016142
Length 312
RefSeq Status VALIDATED
MESALPAAGFLYWVGAGTVAYLALRISYSLFTALRVWGVGNEAGVGPGLGEWAVVTGSTDGIGKSYAEELAKHGMKVVLISRSKDKLDQVSSEIKEKFKVETRTIAVDFASEDIYDKIKTGLAGLEIGILVNNVGMSYEYPEYFLDVPDLDNVIKKMININILSVCKMTQLVLPGMVERSKGAILNISSGSGMLPVPLLTIYSATKTFVDFFSQCLHEEYRSKGVFVQSVLPYFVATKLAKIRKPTLDKPSPETFVKSAIKTVGLQSRTNGYLIHALMGSIISNLPSWIYLKIVMNMNKSTRAHYLKKTKKN

Gene Information

Entrez Gene ID
51144
Gene Name
hydroxysteroid (17-beta) dehydrogenase 12
Gene Symbol
HSD17B12
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0031012 IEA:Ensembl C extracellular matrix
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0004303 IEA:UniProtKB-EC F estradiol 17-beta-dehydrogenase activity
GO:0008201 IEA:Ensembl F heparin binding
GO:0044255 TAS:Reactome P cellular lipid metabolic process
GO:0006703 IEA:UniProtKB-UniPathway P estrogen biosynthetic process
GO:0030198 IEA:Ensembl P extracellular matrix organization
GO:0006633 IEA:UniProtKB-UniPathway P fatty acid biosynthetic process
GO:0035338 TAS:Reactome P long-chain fatty-acyl-CoA biosynthetic process
GO:0010811 IEA:Ensembl P positive regulation of cell-substrate adhesion
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0019432 TAS:Reactome P triglyceride biosynthetic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00140 Steroid hormone biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_11059 Androgen biosynthesis
REACT_380 Synthesis of very long-chain fatty acyl-CoAs

Domain Information

InterPro Annotations

Accession Description
IPR002347 Glucose/ribitol dehydrogenase
IPR016040 NAD(P)-binding domain
IPR020904 Short-chain dehydrogenase/reductase, conserved site
IPR002198 Short-chain dehydrogenase/reductase SDR

UniProt Annotations

Entry Information

Gene Name
hydroxysteroid (17-beta) dehydrogenase 12
Protein Entry
DHB12_HUMAN
UniProt ID
Q53GQ0
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q53GQ0-1; Sequence=Displayed; Name=2; IsoId=Q53GQ0-2; Sequence=VSP_056380, VSP_056381; Note=No experimental confirmation available.;
Biophysicochemical Properties Kinetic parameters: KM=3.5 uM for estrone ;
Catalytic Activity 17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H.
Domain The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
Function 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.
Pathway Lipid metabolism; fatty acid biosynthesis.
Pathway Steroid biosynthesis; estrogen biosynthesis.
Sequence Caution Sequence=AK027882; Type=Frameshift; Positions=92; Evidence= ;
Similarity Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
Subcellular Location Endoplasmic reticulum membrane ; Multi-pass membrane protein .
Subunit Interacts with ELOVL1 and LASS2.
Tissue Specificity Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in platelets. {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP006006 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
7705855 RefSeq NP_057226 312 estradiol 17-beta-dehydrogenase 12

Identical Sequences to LMP006006 proteins

Reference Database Accession Length Protein Name
GI:7705855 DBBJ BAF85314.1 312 unnamed protein product [Homo sapiens]
GI:7705855 DBBJ BAG52039.1 312 unnamed protein product [Homo sapiens]
GI:7705855 DBBJ BAG52086.1 312 unnamed protein product [Homo sapiens]
GI:7705855 GenBank ABW03509.1 312 hydroxysteroid (17-beta) dehydrogenase 12, partial [synthetic construct]
GI:7705855 GenBank AHD71440.1 312 Sequence 6134 from patent US 8586006
GI:7705855 SwissProt Q53GQ0.2 312 RecName: Full=Estradiol 17-beta-dehydrogenase 12; AltName: Full=17-beta-hydroxysteroid dehydrogenase 12; Short=17-beta-HSD 12; AltName: Full=3-ketoacyl-CoA reductase; Short=KAR [Homo sapiens]

Related Sequences to LMP006006 proteins

Reference Database Accession Length Protein Name
GI:7705855 DBBJ BAD96601.1 312 steroid dehydrogenase homolog, partial [Homo sapiens]
GI:7705855 DBBJ BAG52052.1 312 unnamed protein product [Homo sapiens]
GI:7705855 EMBL CAF86872.1 312 unnamed protein product [Homo sapiens]
GI:7705855 GenBank AAP36605.1 313 Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12, partial [synthetic construct]
GI:7705855 GenBank AAX29729.1 313 hydroxysteroid (17-beta) dehydrogenase 12, partial [synthetic construct]
GI:7705855 GenBank EAW68082.1 312 hydroxysteroid (17-beta) dehydrogenase 12, isoform CRA_b [Homo sapiens]