BDH1

BDH1
Identifiers
Aliases	BDH1 , BDH, SDR9C1, 3-hydroxybutyrate dehydrogenase, type 1, 3-hydroxybutyrate dehydrogenase 1
External IDs	OMIM: 603063; MGI: 1919161; HomoloGene: 20860; GeneCards: BDH1; OMA:BDH1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q29 Start 197,509,783 bp [1] End 197,573,323 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 B2 Start 31,241,098 bp [2] End 31,277,719 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver mucosa of transverse colon cerebellar hemisphere right hemisphere of cerebellum rectum duodenum right frontal lobe olfactory zone of nasal mucosa apex of heart left ventricle Top expressed in epithelium of small intestine interventricular septum left lobe of liver myocardium of ventricle right ventricle soleus muscle human kidney ileum migratory enteric neural crest cell extraocular muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function catalytic activity 3-hydroxybutyrate dehydrogenase activity oxidoreductase activity Cellular component nucleoplasm mitochondrial matrix mitochondrion mitochondrial inner membrane membrane matrix side of mitochondrial inner membrane Biological process ketone body biosynthetic process ketone body catabolic process metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 622 71911 Ensembl ENSG00000161267 ENSG00000275544 ENSMUSG00000046598 UniProt Q02338 Q80XN0 RefSeq (mRNA) NM_004051 NM_203314 NM_203315 NM_001122683 NM_175177 RefSeq (protein) NP_004042 NP_976059 NP_976060 NP_001116155 NP_780386 Location (UCSC) Chr 3: 197.51 – 197.57 Mb Chr 16: 31.24 – 31.28 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

D-beta-hydroxybutyrate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the BDH1 gene. ^{[5] [6] [7]}

This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. ^[7]

See also

• 3-hydroxybutyrate dehydrogenase

References

1. ENSG00000275544 GRCh38: Ensembl release 89: ENSG00000161267, ENSG00000275544 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000046598 – 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.
5. Marks AR, McIntyre JO, Duncan TM, Erdjument-Bromage H, Tempst P, Fleischer S (Aug 1992). "Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart". J Biol Chem. 267 (22): 15459–63. doi: 10.1016/S0021-9258(19)49556-2 . PMID   1639787.
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.
7. "Entrez Gene: BDH1 3-hydroxybutyrate dehydrogenase, type 1".

External links

• Human BDH1 genome location and BDH1 gene details page in the UCSC Genome Browser .

Further reading

• Adami P, Duncan TM, McIntyre JO, et al. (1993). "Monoclonal antibodies for structure-function studies of (R)-3-hydroxybutyrate dehydrogenase, a lipid-dependent membrane-bound enzyme". Biochem. J. 292 (3): 863–72. doi:10.1042/bj2920863. PMC   1134194 . PMID   7686368.
• Langston HP, Jones L, Churchill S, Churchill PF (1996). "Purification and characterization of a (R)-3-hydroxybutyrate dehydrogenase deletion mutant. Evidence for C-terminal involvement in enzyme activation by lecithin". Arch. Biochem. Biophys. 327 (1): 45–52. doi:10.1006/abbi.1996.0091. PMID   8615695.
• Green D, Marks AR, Fleischer S, McIntyre JO (1996). "Wild type and mutant human heart (R)-3-hydroxybutyrate dehydrogenase expressed in insect cells". Biochemistry. 35 (25): 8158–65. doi:10.1021/bi952807n. PMID   8679568.
• Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi: 10.1101/gr.6.9.807 . PMID   8889549.
• Chelius D, Loeb-Hennard C, Fleischer S, et al. (2000). "Phosphatidylcholine activation of human heart (R)-3-hydroxybutyrate dehydrogenase mutants lacking active center sulfhydryls: site-directed mutagenesis of a new recombinant fusion protein". Biochemistry. 39 (32): 9687–97. doi:10.1021/bi000274z. PMID   10933785.
• Loeb-Hennard C, McIntyre JO (2000). "(R)-3-hydroxybutyrate dehydrogenase: selective phosphatidylcholine binding by the C-terminal domain". Biochemistry. 39 (39): 11928–38. doi:10.1021/bi000425y. PMID   11009606.
• Xu XR, Huang J, Xu ZG, et al. (2002). "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver". Proc. Natl. Acad. Sci. U.S.A. 98 (26): 15089–94. doi: 10.1073/pnas.241522398 . PMC   64988 . PMID   11752456.
• 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.
• 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.