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Aliases for HSD17B12 Gene

Aliases for HSD17B12 Gene

  • Hydroxysteroid (17-Beta) Dehydrogenase 12 2 3
  • 3-Ketoacyl-CoA Reductase 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 12C Member 1 3 4
  • 17-Beta-Hydroxysteroid Dehydrogenase 12 3 4
  • Estradiol 17-Beta-Dehydrogenase 12 3 4
  • 17-Beta-HSD 12 3 4
  • SDR12C1 3 4
  • KAR 3 4
  • Short Chain Dehydrogenase/Reductase Family 12C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 12C 2
  • Very-Long-Chain 3-Oxoacyl-CoA Reductase 3
  • Steroid Dehydrogenase Homolog 3
  • 17beta-HSD Type 12 3
  • EC 1.1.1.330 4
  • EC 1.1.1.62 4
  • Member 1 2

External Ids for HSD17B12 Gene

Summaries for HSD17B12 Gene

Entrez Gene Summary for HSD17B12 Gene

  • 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]

GeneCards Summary for HSD17B12 Gene

HSD17B12 (Hydroxysteroid (17-Beta) Dehydrogenase 12) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include heparin binding and fibronectin binding. An important paralog of this gene is HSDL1.

UniProtKB/Swiss-Prot for HSD17B12 Gene

  • Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May also catalyze the transformation of estrone (E1) into estradiol (E2) and play a role in estrogen formation.

Gene Wiki entry for HSD17B12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B12 Gene

Genomics for HSD17B12 Gene

Genomic Location for HSD17B12 Gene

Start:
43,556,436 bp from pter
End:
43,856,619 bp from pter
Size:
300,184 bases
Orientation:
Plus strand

Genomic View for HSD17B12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HSD17B12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B12 Gene

Regulatory Elements for HSD17B12 Gene

Proteins for HSD17B12 Gene

  • Protein details for HSD17B12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53GQ0-DHB12_HUMAN
    Recommended name:
    Very-long-chain 3-oxoacyl-CoA reductase
    Protein Accession:
    Q53GQ0
    Secondary Accessions:
    • A8K9B0
    • D3DR23
    • Q96EA9
    • Q96JU2
    • Q9Y6G8

    Protein attributes for HSD17B12 Gene

    Size:
    312 amino acids
    Molecular mass:
    34324 Da
    Quaternary structure:
    • Interacts with ELOVL1 and LASS2.
    SequenceCaution:
    • Sequence=AK027882; Type=Frameshift; Positions=92; Evidence={ECO:0000305};

    Alternative splice isoforms for HSD17B12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD17B12 Gene

Proteomics data for HSD17B12 Gene at MOPED

Post-translational modifications for HSD17B12 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys86, Lys223, Lys244, Lys257, and Lys261

Other Protein References for HSD17B12 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HSD17B12 Gene

Domains for HSD17B12 Gene

Gene Families for HSD17B12 Gene

HGNC:
  • SDRC3 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

Protein Domains for HSD17B12 Gene

UniProtKB/Swiss-Prot:

DHB12_HUMAN
Domain:
  • The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.:
    • Q53GQ0
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.:
    • Q53GQ0
genes like me logo Genes that share domains with HSD17B12: view

Function for HSD17B12 Gene

Molecular function for HSD17B12 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=3.5 uM for estrone {ECO:0000269 PubMed:16166196};
UniProtKB/Swiss-Prot CatalyticActivity: A very-long-chain (3R)-3-hydroxyacyl-CoA + NADP(+) = a very-long-chain 3-oxoacyl-CoA + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity: 17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H.
UniProtKB/Swiss-Prot Function: Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May also catalyze the transformation of estrone (E1) into estradiol (E2) and play a role in estrogen formation.

Enzyme Numbers (IUBMB) for HSD17B12 Gene

Gene Ontology (GO) - Molecular Function for HSD17B12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001968 fibronectin binding IEA --
GO:0004303 estradiol 17-beta-dehydrogenase activity IEA --
GO:0005515 protein binding IPI 20937905
GO:0005518 collagen binding IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with HSD17B12: view
genes like me logo Genes that share phenotypes with HSD17B12: view

miRNA for HSD17B12 Gene

miRTarBase miRNAs that target HSD17B12

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for HSD17B12 Gene

Localization for HSD17B12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B12 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD17B12 Gene COMPARTMENTS Subcellular localization image for HSD17B12 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HSD17B12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with HSD17B12: view

Pathways for HSD17B12 Gene

genes like me logo Genes that share pathways with HSD17B12: view

UniProtKB/Swiss-Prot Q53GQ0-DHB12_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.
  • Pathway: Steroid biosynthesis; estrogen biosynthesis.

Gene Ontology (GO) - Biological Process for HSD17B12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006703 estrogen biosynthetic process IEA --
GO:0008152 metabolic process --
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0019432 triglyceride biosynthetic process TAS --
genes like me logo Genes that share ontologies with HSD17B12: view

Compounds for HSD17B12 Gene

(6) HMDB Compounds for HSD17B12 Gene

Compound Synonyms Cas Number PubMed IDs
3-Oxohexadecanoyl-CoA
  • 3-Ketopalmitoyl-CoA
34619-89-1
3-Oxooctanoyl-CoA
  • 3-oxooctanoyl-coenzyme A
54684-64-9
Acetoacetyl-CoA
  • 3-acetoacetyl-CoA
1420-36-6
Estradiol
  • (+)-3,17b-Estradiol
50-28-2
Estrone
  • (+)-Estrone
53-16-7

(8) Novoseek inferred chemical compound relationships for HSD17B12 Gene

Compound -log(P) Hits PubMed IDs
11beta-hydroxysteroid 77.9 1
steroid 71.1 27
cortisone 47.9 1
retinoid 34.4 1
fatty acid 24 1
genes like me logo Genes that share compounds with HSD17B12: view

Transcripts for HSD17B12 Gene

Unigene Clusters for HSD17B12 Gene

Hydroxysteroid (17-beta) dehydrogenase 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B12 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
SP1: - - - -
SP2: - - -
SP3: - -
SP4:
SP5:

Relevant External Links for HSD17B12 Gene

GeneLoc Exon Structure for
HSD17B12
ECgene alternative splicing isoforms for
HSD17B12

Expression for HSD17B12 Gene

mRNA expression in normal human tissues for HSD17B12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HSD17B12 Gene

SOURCE GeneReport for Unigene cluster for HSD17B12 Gene Hs.132513

mRNA Expression by UniProt/SwissProt for HSD17B12 Gene

Q53GQ0-DHB12_HUMAN
Tissue specificity: Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in platelets.
genes like me logo Genes that share expressions with HSD17B12: view

Orthologs for HSD17B12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSD17B12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSD17B12 36
  • 99.68 (n)
  • 99.68 (a)
HSD17B12 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HSD17B12 36
  • 85.68 (n)
  • 82.37 (a)
HSD17B12 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B12 36
  • 87.5 (n)
  • 85.58 (a)
HSD17B12 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd17b12 36
  • 84.29 (n)
  • 81.09 (a)
Hsd17b12 16
Hsd17b12 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSD17B12 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD17B12 37
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd17b12 36
  • 85.49 (n)
  • 83.39 (a)
chicken
(Gallus gallus)
Aves HSD17B12 36
  • 72.67 (n)
  • 69.35 (a)
HSD17B12 37
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 56 (a)
OneToMany
-- 37
  • 53 (a)
OneToMany
-- 37
  • 52 (a)
OneToMany
-- 37
  • 40 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia let-767co-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b12 36
  • 64.62 (n)
  • 62.26 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9473 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
hsd17b12a 37
  • 58 (a)
OneToMany
hsd17b12b 36
  • 62.53 (n)
  • 61.11 (a)
hsd17b12b 37
  • 59 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004532 36
  • 53.72 (n)
  • 48.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1444 36
  • 53.23 (n)
  • 51.33 (a)
CG1444 37
  • 45 (a)
OneToOne
CG6012 38
  • 32 (a)
CG1444 38
  • 54 (a)
CG13284 38
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea let-767 36
  • 48.62 (n)
  • 43.45 (a)
daz-1 38
  • 34 (a)
F25G6.5 38
  • 37 (a)
C06B3.4 38
  • 36 (a)
F11A5.12 38
  • 35 (a)
C06B3.5 38
  • 35 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR059C 36
  • 44.73 (n)
  • 37.55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IFA38 36
  • 47.2 (n)
  • 35.57 (a)
IFA38 37
  • 28 (a)
OneToMany
IFA38 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B09812g 36
  • 46.69 (n)
  • 35.76 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons KCR1 36
  • 53.36 (n)
  • 44.54 (a)
rice
(Oryza sativa)
Liliopsida Os04g0483500 36
  • 49.17 (n)
  • 44.44 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11297 36
  • 45.9 (n)
  • 38.46 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4G9.15 36
  • 50.25 (n)
  • 40.08 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 22 (a)
OneToOne
Species with no ortholog for HSD17B12:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSD17B12 Gene

ENSEMBL:
Gene Tree for HSD17B12 (if available)
TreeFam:
Gene Tree for HSD17B12 (if available)

Paralogs for HSD17B12 Gene

Paralogs for HSD17B12 Gene

Selected SIMAP similar genes for HSD17B12 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for HSD17B12 Gene

genes like me logo Genes that share paralogs with HSD17B12: view

Variants for HSD17B12 Gene

Sequence variations from dbSNP and Humsavar for HSD17B12 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs938942 -- 43,690,840(+) ACTGA(A/T)TAAAT intron-variant
rs939015 -- 43,847,101(-) AGATC(A/G)GTACA intron-variant
rs939016 -- 43,846,818(-) CTTTT(C/G)TGTGT intron-variant
rs1059745 -- 43,694,409(+) TCAAA(G/T)TGaaa intron-variant
rs1061810 -- 43,856,384(+) GTTTT(A/C)AGCAC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HSD17B12 Gene

Variant ID Type Subtype PubMed ID
nsv897302 CNV Loss 21882294
nsv832136 CNV Gain+Loss 17160897
nsv7754 CNV Insertion 18451855
esv2672818 CNV Deletion 23128226
nsv7755 CNV Insertion 18451855
nsv832138 CNV Gain 17160897
nsv528546 CNV Loss 19592680
esv2744410 CNV Deletion 23290073
esv267920 CNV Insertion 20981092

Relevant External Links for HSD17B12 Gene

HapMap Linkage Disequilibrium report
HSD17B12

Disorders for HSD17B12 Gene

(2) Novoseek inferred disease relationships for HSD17B12 Gene

Disease -log(P) Hits PubMed IDs
polycystic kidney diseases 44.8 1
cancer 0 1

Relevant External Links for HSD17B12

Genetic Association Database (GAD)
HSD17B12
Human Genome Epidemiology (HuGE) Navigator
HSD17B12
genes like me logo Genes that share disorders with HSD17B12: view

No data available for UniProtKB/Swiss-Prot for HSD17B12 Gene

Publications for HSD17B12 Gene

  1. Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade. (PMID: 12482854) Moon Y.-A. … Horton J.D. (J. Biol. Chem. 2003) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Platelets express steroidogenic 17beta-hydroxysteroid dehydrogenases. Distinct profiles predict the essential thrombocythemic phenotype. (PMID: 16113833) Gnatenko D.V. … Bahou W.F. (Thromb. Haemost. 2005) 3 4

Products for HSD17B12 Gene

Sources for HSD17B12 Gene

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