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Aliases for HSD17B12 Gene

Aliases for HSD17B12 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 12 2 3 5
  • 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 2
  • Hydroxysteroid (17-Beta) Dehydrogenase 12 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

External Ids for HSD17B12 Gene

Previous GeneCards Identifiers for HSD17B12 Gene

  • GC11M046055
  • GC11P044385
  • GC11P043741
  • GC11P043666
  • GC11P043658
  • GC11P043412
  • GC11P043577
  • GC11P043556

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 of steroid hormones and Fatty Acyl-CoA Biosynthesis. GO annotations related to this gene include oxidoreductase activity and collagen binding. An important paralog of this gene is HSD17B3.

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

Regulatory Elements for HSD17B12 Gene

Enhancers for HSD17B12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around HSD17B12 on UCSC Golden Path with GeneCards custom track

Promoters for HSD17B12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HSD17B12 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSD17B12 Gene

Chromosome:
11
Start:
43,680,558 bp from pter
End:
43,856,619 bp from pter
Size:
176,062 bases
Orientation:
Plus strand

Genomic View for HSD17B12 Gene

Genes around HSD17B12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for HSD17B12 Gene

  • Ubiquitination at Lys 86, Lys 223, Lys 244, Lys 257, and Lys 261
  • Modification sites at PhosphoSitePlus

Other Protein References for HSD17B12 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for HSD17B12

No data available for DME Specific Peptides for HSD17B12 Gene

Domains & Families for HSD17B12 Gene

Gene Families for HSD17B12 Gene

Protein Domains for HSD17B12 Gene

Suggested Antigen Peptide Sequences for HSD17B12 Gene

Graphical View of Domain Structure for InterPro Entry

Q53GQ0

UniProtKB/Swiss-Prot:

DHB12_HUMAN :
  • The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
Domain:
  • The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
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

Animal Model Products

  • Taconic Biosciences Mouse Models for HSD17B12

CRISPR Products

miRNA for HSD17B12 Gene

miRTarBase miRNAs that target HSD17B12

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
extracellular 3
cytosol 2
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HSD17B12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HSD17B12: view

Pathways & Interactions 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:0006694 steroid biosynthetic process IEA --
GO:0006703 estrogen biosynthetic process IEA --
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with HSD17B12: view

No data available for SIGNOR curated interactions for HSD17B12 Gene

Drugs & Compounds for HSD17B12 Gene

(9) Drugs for HSD17B12 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1250
Estriol Approved, Vet_approved Pharma Agonist 0
Estrone Approved Pharma Agonist Estrogenic hormone 20
Acetoacetyl-CoA Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0

(15) Additional Compounds for HSD17B12 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11beta,17beta-Dihydroxy-4-androsten-3-one
11b-Hydroxyandrost-4-ene-3,17-dione
  • 11beta-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
382-44-5
16b-Hydroxyestrone
  • 16-Hydroxyestrone
  • 16alpha-Hydroxyestrone
  • 16beta-Hydroxyestrone
  • 3,16-Dihydroxy-Estra-1,3,5(10)-trien-17-one
  • 3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
966-06-3
3-hydroxyoctadecanoyl-CoA
  • 3-Hydroxyoctadecanoyl-coenzyme A
  • 3-Hydroxystearoyl-CoA
  • 3-Hydroxystearoyl-Coenzyme A
  • beta-Hydroxystearoyl-coa
  • beta-Hydroxystearyl-coa
42578-91-6
3-Oxohexadecanoyl-CoA
  • 3-Ketopalmitoleoyl-CoA
  • 3-Ketopalmitoleoyl-Coenzyme A
  • 3-Ketopalmitoyl-CoA
  • 3-Ketopalmitoyl-Coenzyme A
  • 3-Oxo-cis-9-hexadecenoyl-CoA
34619-89-1
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for HSD17B12 Gene

This gene is overexpressed in Fetal testis (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HSD17B12 Gene



Protein tissue co-expression partners for HSD17B12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSD17B12 Gene:

HSD17B12

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 expression patterns with HSD17B12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HSD17B12 Gene

Orthologs for HSD17B12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSD17B12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSD17B12 34
  • 85.68 (n)
  • 82.37 (a)
HSD17B12 35
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B12 34
  • 87.5 (n)
  • 85.58 (a)
HSD17B12 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd17b12 34
  • 84.29 (n)
  • 81.09 (a)
Hsd17b12 16
Hsd17b12 35
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSD17B12 34
  • 99.68 (n)
  • 99.68 (a)
HSD17B12 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd17b12 34
  • 85.49 (n)
  • 83.39 (a)
oppossum
(Monodelphis domestica)
Mammalia HSD17B12 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD17B12 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSD17B12 34
  • 72.67 (n)
  • 69.35 (a)
HSD17B12 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 56 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
-- 35
  • 52 (a)
OneToMany
-- 35
  • 40 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b12 34
  • 64.62 (n)
  • 62.26 (a)
African clawed frog
(Xenopus laevis)
Amphibia let-767co-prov 34
zebrafish
(Danio rerio)
Actinopterygii -- 34
hsd17b12b 34
  • 62.53 (n)
  • 61.11 (a)
hsd17b12a 35
  • 58 (a)
OneToMany
hsd17b12b 35
  • 59 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9473 34
fruit fly
(Drosophila melanogaster)
Insecta CG13284 36
  • 45 (a)
CG1444 36
  • 54 (a)
CG6012 36
  • 32 (a)
CG1444 34
  • 53.23 (n)
  • 51.33 (a)
CG1444 35
  • 45 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004532 34
  • 53.72 (n)
  • 48.08 (a)
worm
(Caenorhabditis elegans)
Secernentea C06B3.4 36
  • 36 (a)
C06B3.5 36
  • 35 (a)
daz-1 36
  • 34 (a)
F11A5.12 36
  • 35 (a)
F25G6.5 36
  • 37 (a)
let-767 34
  • 48.62 (n)
  • 43.45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR059C 34
  • 44.73 (n)
  • 37.55 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B09812g 34
  • 46.69 (n)
  • 35.76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IFA38 34
  • 47.2 (n)
  • 35.57 (a)
IFA38 35
  • 28 (a)
OneToMany
IFA38 37
thale cress
(Arabidopsis thaliana)
eudicotyledons KCR1 34
  • 53.36 (n)
  • 44.54 (a)
rice
(Oryza sativa)
Liliopsida Os04g0483500 34
  • 49.17 (n)
  • 44.44 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11297 34
  • 45.9 (n)
  • 38.46 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4G9.15 34
  • 50.25 (n)
  • 40.08 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToOne
Species where no ortholog for HSD17B12 was found in the sources mined by GeneCards:
  • 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

(4) 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
rs11555762 - 43,855,148(+) GGGCT(C/T)GATAA reference, missense
rs1059745 -- 43,694,409(+) TCAAA(G/T)TGaaa intron-variant
rs1061810 -- 43,856,384(+) GTTTT(A/C)AGCAC utr-variant-3-prime
rs1137389 -- 43,732,542(+) actgc(A/G)gcctc intron-variant
rs1320168 -- 43,693,299(+) GAGGA(A/T)AAGCA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2672818 CNV deletion 23128226
esv2744410 CNV deletion 23290073
esv3303641 CNV mobile element insertion 20981092
esv3363000 CNV insertion 20981092
esv3547668 CNV deletion 23714750
esv3579493 CNV loss 25503493
esv3626151 CNV loss 21293372
esv3626152 CNV loss 21293372
nsv1127177 CNV deletion 24896259
nsv528546 CNV loss 19592680
nsv7754 CNV insertion 18451855
nsv7755 CNV insertion 18451855
nsv832136 CNV gain+loss 17160897
nsv832138 CNV gain 17160897
nsv972005 CNV duplication 23825009
nsv975907 CNV duplication 23825009
nsv983006 CNV duplication 23825009

Variation tolerance for HSD17B12 Gene

Residual Variation Intolerance Score: 54.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.27; 62.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSD17B12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD17B12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B12 Gene

Disorders for HSD17B12 Gene

Relevant External Links for HSD17B12

Genetic Association Database (GAD)
HSD17B12
Human Genome Epidemiology (HuGE) Navigator
HSD17B12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD17B12

No disorders were found for HSD17B12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 65
  2. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 65
  3. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PMID: 20937905) Ohno Y. … Kihara A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 65
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 65
  5. Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer. (PMID: 19460435) Plourde M. … Simard J. (J. Steroid Biochem. Mol. Biol. 2009) 3 46 65

Products for HSD17B12 Gene

Sources for HSD17B12 Gene

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