HSD17B12

HSD17B12
Identifiers
Aliases	HSD17B12 , KAR, SDR12C1, hydroxysteroid (17-beta) dehydrogenase 12, hydroxysteroid 17-beta dehydrogenase 12
External IDs	OMIM: 609574 MGI: 1926967 HomoloGene: 95094 GeneCards: HSD17B12
Gene location (Human)
Chr.	Chromosome 11 (human)
End	43,856,617 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	93,988,309 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; retinal pigment epithelium; ; pancreatic ductal cell; ; optic nerve; ; inferior ganglion of vagus nerve; ; cardia; ; renal medulla; ; spinal ganglia; ; pericardium; ; pylorus;
	Top expressed in
	brown adipose tissue; ; cumulus cell; ; left lobe of liver; ; ciliary body; ; iris; ; sciatic nerve; ; lip; ; mammary gland; ; retinal pigment epithelium; ; subcutaneous adipose tissue;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	heparin binding ; estradiol 17-beta-dehydrogenase activity ; oxidoreductase activity ; collagen binding ; fibronectin binding ; protein binding ; 3-oxo-lignoceroyl-CoA reductase activity ; 3-oxo-behenoyl-CoA reductase activity ; long-chain-3-hydroxyacyl-CoA dehydrogenase activity ; 3-oxo-arachidoyl-CoA reductase activity ; 3-oxo-cerotoyl-CoA reductase activity ;
Cellular component	integral component of membrane ; membrane ; endoplasmic reticulum ; endoplasmic reticulum membrane ; extracellular matrix ;
Biological process	lipid metabolism ; extracellular matrix organization ; long-chain fatty-acyl-CoA biosynthetic process ; positive regulation of cell-substrate adhesion ; fatty acid biosynthetic process ; estrogen biosynthetic process ; steroid biosynthetic process ;
	Sources:Amigo / QuickGO
Orthologs
	51144
	56348
	ENSG00000149084
	ENSMUSG00000027195
	Q53GQ0
	O70503
	NM_016142
	NM_019657
	NP_057226
	NP_062631
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated April 02, 2024

Estradiol 17-beta-dehydrogenase 12 is an enzyme that in humans is encoded by the HSD17B12 gene.^[5]^[6]^[7]

The enzyme 17-beta hydroxysteroid dehydrogenase-12 (HSD17B12) uses NADPH to reduce 3-ketoacyl-CoA to 3-hydroxyacyl-CoA during the second step of fatty acid elongation.[supplied by OMIM]^[7]

Related Research Articles

17β-Hydroxysteroid dehydrogenases, also 17-ketosteroid reductases (17-KSR), are a group of alcohol oxidoreductases which catalyze the reduction of 17-ketosteroids and the dehydrogenation of 17β-hydroxysteroids in steroidogenesis and steroid metabolism. This includes interconversion of DHEA and androstenediol, androstenedione and testosterone, and estrone and estradiol.

17β-Hydroxysteroid dehydrogenase 1 (17β-HSD1) is an enzyme that in humans is encoded by the HSD17B1 gene. This enzyme oxidizes or reduces the C17 hydroxy/keto group of androgens and estrogens and hence is able to regulate the potency of these sex steroids

HSD3B1 is a human gene that encodes for a 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type I or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1. While it can carry out the same function as HSD3B2, it localizes primarily to different tissues, such as the placenta and nonsteroidogenic tissues. Its requirement for the production of progesterone by the placenta, which has a vital role in pregnancy, may be one reason why no disease based on mutations in this gene has been identified to date, besides prostate cancer.

Aldo-keto reductase family 1 member C3 (AKR1C3), also known as 17β-hydroxysteroid dehydrogenase type 5 is a key steroidogenic enzyme that in humans is encoded by the AKR1C3 gene.

17-β-Hydroxysteroid dehydrogenase X (HSD10) also known as 3-hydroxyacyl-CoA dehydrogenase type-2 is a mitochondrial enzyme that in humans is encoded by the HSD17B10 gene. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. Human HSD10 cDNA was cloned from the brain (NM_004493), and the resulting protein, a homotetramer, was first characterized as a short chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD). Active sites of this enzyme can accommodate different substrates; 17β-HSD10 is involved in the oxidation of isoleucine, branched-chain fatty acids, and xenobiotics as well as the metabolism of sex hormones and neuroactive steroids.

D-bifunctional protein (DBP), also known as peroxisomal multifunctional enzyme type 2 (MFP-2), as well as 17β-hydroxysteroid dehydrogenase type IV is a protein that in humans is encoded by the HSD17B4 gene. It's an alcohol oxidoreductase, specifically 17β-Hydroxysteroid dehydrogenase. It is involved in fatty acid β-oxidation and steroid metabolism.

17β-Hydroxysteroid dehydrogenase 2 (17β-HSD2) is an enzyme of the 17β-hydroxysteroid dehydrogenase (17β-HSD) family that in humans is encoded by the HSD17B2 gene.

GDH/6PGL endoplasmic bifunctional protein is a protein that in humans is encoded by the H6PD gene.

3-keto-steroid reductase is an enzyme that in humans is encoded by the HSD17B7 gene.

Estradiol 17 beta-dehydrogenase 8 is an enzyme that in humans is encoded by the HSD17B8 gene.

Dehydrogenase/reductase SDR family member 2 is an enzyme that in humans is encoded by the DHRS2 gene.

Quinone oxidoreductase is an enzyme that in humans is encoded by the CRYZ gene.

Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial is an enzyme that in humans is encoded by the MTHFD2 gene.

Dehydrogenase/reductase SDR family member 1, also known as Short chain dehydrogenase/reductase family 19C member 1 is an enzyme that in humans is encoded by the DHRS1 gene located on chromosome 14.

Estradiol 17-beta-dehydrogenase 11 is an enzyme that in humans is encoded by the HSD17B11 gene.

UDP-glucuronic acid decarboxylase 1 is an enzyme that in humans is encoded by the UXS1 gene.

Short-chain dehydrogenase/reductase 3 is an enzyme that in humans is encoded by the DHRS3 gene.

Dehydrogenase/reductase SDR family member 9 is an enzyme that in humans is encoded by the DHRS9 gene.

Peroxisomal 2,4-dienoyl-CoA reductase is an enzyme that in humans is encoded by the DECR2 gene.

Hydroxysteroid 17-beta dehydrogenase 6 is an enzyme that in humans is encoded by the HSD17B6 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000149084 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027195 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Moon YA, Horton JD (Feb 2003). "Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade". J Biol Chem. 278 (9): 7335–43. doi: 10.1074/jbc.M211684200 . PMID 12482854.
↑ Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem Biol Interact. 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC 2896744 . PMID 19027726.
1 2 "Entrez Gene: HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12".

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID 14702039.
Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316 . PMID 15342556.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Gnatenko DV, Cupit LD, Huang EC, et al. (2005). "Platelets express steroidogenic 17beta-hydroxysteroid dehydrogenases. Distinct profiles predict the essential thrombocythemic phenotype". Thromb. Haemost. 94 (2): 412–21. doi:10.1160/TH05-01-0037. PMID 16113833. S2CID 257259321.
Luu-The V, Tremblay P, Labrie F (2006). "Characterization of type 12 17beta-hydroxysteroid dehydrogenase, an isoform of type 3 17beta-hydroxysteroid dehydrogenase responsible for estradiol formation in women". Mol. Endocrinol. 20 (2): 437–43. doi: 10.1210/me.2005-0058 . PMID 16166196.
Sakurai N, Miki Y, Suzuki T, et al. (2006). "Systemic distribution and tissue localizations of human 17beta-hydroxysteroid dehydrogenase type 12". J. Steroid Biochem. Mol. Biol. 99 (4–5): 174–81. doi:10.1016/j.jsbmb.2006.01.010. PMID 16621523. S2CID 22249124.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000149084 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027195 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12482854-5] Moon YA, Horton JD (Feb 2003). "Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade". J Biol Chem. 278 (9): 7335–43. doi: 10.1074/jbc.M211684200 . PMID 12482854.

[pmid19027726-6] Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem Biol Interact. 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC 2896744 . PMID 19027726.

[entrez-7] 1 2 "Entrez Gene: HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12".

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HSD17B12

Related Research Articles

References

Further reading