HADHB

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Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
羟基脂酰CoA脱氢酶/3-酮脂酰CoA的硫解酶/烯酰CoA的水合酶(线粒体三功能蛋白),β亚基
标识
代号 HADHB; ECHB; MTPB; TP-BETA
扩展标识 遗传学143450 鼠基因3651143 同源基因153 GeneCards: HADHB Gene
EC编号 2.3.1.16
直系同源体
物种 人类 鼠类
Entrez 3032 231086
Ensembl ENSG00000138029 ENSMUSG00000059447
UniProt P55084 Q99JY0
mRNA序列 NM_000183 NM_145558
蛋白序列 NP_000174 NP_663533
基因位置 Chr 2:
26.47 – 26.51 Mb
Chr 5:
30.16 – 30.18 Mb
PubMed查询 [1] [2]

线粒体三功能酶β亚基英语:Trifunctional enzyme subunit beta, mitochondrialTP-beta)也被称为3-ketoacyl-CoA thiolaseacetyl-CoA acyltransferasebeta-ketothiolase 是一种由人类基因 HADHB 所编码的酶[1]

HADHB是线粒体三功能蛋白的一个亚基,并具有硫解酶活性。

目录

功能

参考文献

延伸阅读

  • Wang R, Yang Z, Zhu JM, et al.. [Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant].. Zhonghua Fu Chan Ke Za Zhi. 2006, 41 (10): 672–5. PMID 17199921. 
  • Aboulaich N, Vainonen JP, StrÃ¥lfors P, Vener AV. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC1134064/ Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.]. Biochem. J.. 2004, 383 (Pt 2): 237–48. doi:10.1042/BJ20040647. PMID 15242332. PMC 1134064. 
  • Adams DJ, Beveridge DJ, van der Weyden L, et al.. HADHB, HuR, and CP1 bind to the distal 3'-untranslated region of human renin mRNA and differentially modulate renin expression.. J. Biol. Chem.. 2003, 278 (45): 44894–903. doi:10.1074/jbc.M307782200. PMID 12933794. 
  • Spiekerkoetter U, Khuchua Z, Yue Z, et al.. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.. Pediatr. Res.. 2004, 55 (2): 190–6. doi:10.1203/01.PDR.0000103931.80055.06. PMID 14630990. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC1356129/ Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.]. Genome Res.. 2006, 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560. PMC 1356129. 
  • Bogenhagen DF, Rousseau D, Burke S. The layered structure of human mitochondrial DNA nucleoids.. J. Biol. Chem.. 2008, 283 (6): 3665–75. doi:10.1074/jbc.M708444200. PMID 18063578. 
  • Middleton B. The mitochondrial long-chain trifunctional enzyme: 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA thiolase.. Biochem. Soc. Trans.. 1994, 22 (2): 427–31. PMID 7958339. 
  • Zhao Y, Meng XM, Wei YJ, et al.. Cloning and characterization of a novel cardiac-specific kinase that interacts specifically with cardiac troponin I.. J. Mol. Med.. 2003, 81 (5): 297–304. doi:10.1007/s00109-003-0427-x. PMID 12721663. 
  • Behrends C, Sowa ME, Gygi SP, Harper JW. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC2901998/ Network organization of the human autophagy system.]. Nature. 2010, 466 (7302): 68–76. doi:10.1038/nature09204. PMID 20562859. PMC 2901998. 
  • Purevsuren J, Fukao T, Hasegawa Y, et al.. Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.. Mol. Genet. Metab.. 2009, 98 (4): 372–7. doi:10.1016/j.ymgme.2009.07.011. PMID 19699128. 
  • Hillier LW, Graves TA, Fulton RS, et al.. Generation and annotation of the DNA sequences of human chromosomes 2 and 4.. Nature. 2005, 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621. 
  • Spiekerkoetter U, Sun B, Khuchua Z, et al.. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.. Hum. Mutat.. 2003, 21 (6): 598–607. doi:10.1002/humu.10211. PMID 12754706. 
  • Gerhard DS, Wagner L, Feingold EA, et al.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC528928/ The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).]. Genome Res.. 2004, 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. PMC 528928. 
  • Ota T, Suzuki Y, Nishikawa T, et al.. Complete sequencing and characterization of 21,243 full-length human cDNAs.. Nat. Genet.. 2004, 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Fould B, Garlatti V, Neumann E, et al.. Structural and functional characterization of the recombinant human mitochondrial trifunctional protein.. Biochemistry. 2010, 49 (39): 8608–17. doi:10.1021/bi100742w. PMID 20825197. 
  • Strausberg RL, Feingold EA, Grouse LH, et al.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC139241/ Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.]. Proc. Natl. Acad. Sci. U.S.A.. 2002, 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. PMC 139241. 
  • Ibdah JA, Tein I, Dionisi-Vici C, et al.. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.. J. Clin. Invest.. 1998, 102 (6): 1193–9. doi:10.1172/JCI2091. PMID 9739053. 
  • Gevaert K, Goethals M, Martens L, et al.. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.. Nat. Biotechnol.. 2003, 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. 
  • Hendrickson SL, Lautenberger JA, Chinn LW, et al.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC2943476/ Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.]. PLoS ONE. 2010, 5 (9): e12862. doi:10.1371/journal.pone.0012862. PMID 20877624. PMC 2943476. 
  • Frackowiak J, Mazur-Kolecka B, Kaczmarski W, Dickson D. Deposition of Alzheimer's vascular amyloid-beta is associated with decreased expression of brain L-3-hydroxyacyl-coenzyme A dehydrogenase (ERAB).. Brain Res.. 2001, 907 (1-2): 44–53. doi:10.1016/S0006-8993(01)02497-0. PMID 11430884. 

外部链接


HADHB引用了美国国家医学图书馆提供的资料,这些资料属于公共领域。

参考来源

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