HADHB

HADHB
標識符
代號	HADHB
擴展標識	OMIM：143450；MGI：2136381；HomoloGene：153；GeneCards：HADHB；OMA：HADHB - orthologs
基因位置（人類）
染色體	2號染色體
終止	26,290,465 bp
基因位置（小鼠）
染色體	小鼠5號染色體
終止	30,389,591 bp
RNA表現模式
	Top expressed in
	myocardium of left ventricle; ; jejunal mucosa; ; Skeletal muscle tissue of rectus abdominis; ; cardiac muscle tissue of right atrium;
	Top expressed in
	muscle of thigh; ; right kidney; ; dentate gyrus of hippocampal formation granule cell; ; tail of embryo;
	查閱更多表現資料
	無資料
基因本體
分子功能	轉移酶活性; acyltransferase activity, transferring groups other than amino-acyl groups; enoyl-CoA hydratase activity; long-chain-3-hydroxyacyl-CoA dehydrogenase activity; 血漿蛋白結合; 催化活性; acyltransferase activity; 3-hydroxyacyl-CoA dehydrogenase activity; RNA binding; acetyl-CoA C-acyltransferase activity; long-chain-enoyl-CoA hydratase activity;
細胞組分	膜; mitochondrial outer membrane; 內質網; mitochondrial inner membrane; mitochondrial envelope; 粒線體擬核; 外排體; 粒線體;
生物學過程	脂質代謝; 脂肪酸代謝; 代謝; cardiolipin acyl-chain remodeling; fatty acid beta-oxidation;
	來源：Amigo / QuickGO
直系同源
	3032
	231086
	ENSG00000138029
	ENSMUSG00000059447
	P55084
	Q99JY0
	NM_000183; NM_001281512; NM_001281513
	NM_145558; NM_001289798; NM_001289799
	NP_000174; NP_001268441; NP_001268442
	NP_001276727; NP_001276728; NP_663533
	維基數據
檢視/編輯人類	檢視/編輯小鼠

粒線體三功能酶β亞基（英語：Trifunctional enzyme subunit beta, mitochondrial，TP-beta）也被稱為3-ketoacyl-CoA thiolase、acetyl-CoA acyltransferase或beta-ketothiolase 是一種由人類基因 HADHB 所編碼的酶^[5]。

HADHB是粒線體三功能蛋白的一個亞基，並具有硫解酶（英語：thiolase）活性。

結構

HADHB基因位於2號染色體的2p23段^[5]，包括17個外顯子，該蛋白化學式為^[6]：C₂₁₅₃H₃₄₂₄O₆₄₈N₅₇₈S₂₂^[7]分子量為47.4 kDa，包括474個胺基酸殘基^[8]^[9]。

功能

參考文獻

^ ^1.0 ^1.1 ^1.2 GRCh38: Ensembl release 89: ENSG00000138029 – Ensembl, May 2017
^ ^2.0 ^2.1 ^2.2 GRCm38: Ensembl release 89: ENSMUSG00000059447 – Ensembl, 2017年5月
^ 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.
^ ^5.0 ^5.1 Entrez Gene: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein). （原始內容存檔於2009-10-19）.
^ Expasy - ProtParam. web.expasy.org. [2025-06-01].
^ UniProt. UniProt. [2025-06-01] （英語）.
^ ]Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P. Integration of cardiac proteome biology and medicine by a specialized knowledgebase. Circulation Research. October 2013, 113 (9): 1043–53. PMC 4076475 . PMID 23965338. doi:10.1161/CIRCRESAHA.113.301151.
^ Trifunctional enzyme subunit beta, mitochondrial. Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). [2019-07-07]. （原始內容存檔於2016-03-04）.

延伸閱讀

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. 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. PMC 1134064 . PMID 15242332. doi:10.1042/BJ20040647.
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. PMID 12933794. doi:10.1074/jbc.M307782200.
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. PMID 14630990. doi:10.1203/01.PDR.0000103931.80055.06.
Kimura K, Wakamatsu A, Suzuki Y; et al. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.. Genome Res. 2006, 16 (1): 55–65. PMC 1356129 . PMID 16344560. doi:10.1101/gr.4039406.
Bogenhagen DF, Rousseau D, Burke S. The layered structure of human mitochondrial DNA nucleoids.. J. Biol. Chem. 2008, 283 (6): 3665–75. PMID 18063578. doi:10.1074/jbc.M708444200.
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. PMID 12721663. doi:10.1007/s00109-003-0427-x.
Behrends C, Sowa ME, Gygi SP, Harper JW. Network organization of the human autophagy system.. Nature. 2010, 466 (7302): 68–76. PMC 2901998 . PMID 20562859. doi:10.1038/nature09204.
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. PMID 19699128. doi:10.1016/j.ymgme.2009.07.011.
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. PMID 15815621. doi:10.1038/nature03466.
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. PMID 12754706. doi:10.1002/humu.10211.
Gerhard DS, Wagner L, Feingold EA; et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).. Genome Res. 2004, 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
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. PMID 14702039. doi:10.1038/ng1285.
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. PMID 20825197. doi:10.1021/bi100742w.
Strausberg RL, Feingold EA, Grouse LH; et al. 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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
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. PMID 9739053. doi:10.1172/JCI2091.
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. PMID 12665801. doi:10.1038/nbt810.
Hendrickson SL, Lautenberger JA, Chinn LW; et al. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.. PLoS ONE. 2010, 5 (9): e12862. PMC 2943476 . PMID 20877624. doi:10.1371/journal.pone.0012862.
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. PMID 11430884. doi:10.1016/S0006-8993(01)02497-0.

外部連結

醫學主題詞表（MeSH）：HADHB+protein,+human

HADHB引用了美國國家醫學圖書館提供的資料，這些資料屬於公共領域。

[refGRCh38Ensembl-1] 1.0 ^1.1 ^1.2 GRCh38: Ensembl release 89: ENSG00000138029 – Ensembl, May 2017

[refGRCm38Ensembl-2] 2.0 ^2.1 ^2.2 GRCm38: Ensembl release 89: ENSMUSG00000059447 – Ensembl, 2017年5月

[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.

[entrez-5] 5.0 ^5.1 Entrez Gene: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein). （原始內容存檔於2009-10-19）.

[6] Expasy - ProtParam. web.expasy.org. [2025-06-01].

[7] UniProt. UniProt. [2025-06-01] （英語）.

[COPaKB-8] ]Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P. Integration of cardiac proteome biology and medicine by a specialized knowledgebase. Circulation Research. October 2013, 113 (9): 1043–53. PMC 4076475 . PMID 23965338. doi:10.1161/CIRCRESAHA.113.301151.

[url_COPaKB-9] Trifunctional enzyme subunit beta, mitochondrial. Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). [2019-07-07]. （原始內容存檔於2016-03-04）.

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閱論編酶：多酶複合體
光合作用	光合作用中心光系統光系統 I 光系統 II
去氫酶	丙酮酸去氫酶複合體 E1 E2 E3 α-酮戊二酸去氫酶複合體 OGDH DLST（英語：二氢硫辛酰胺琥珀酰转移酶） DLD 支鏈α-酮酸去氫酶複合體 BCKDHA（英語：BCKDHA） BCKDHB（英語：BCKDHB） DBT（英語：DBT (gene)） DLD
其他	CAD 胺甲醯磷酸合成酶II（英語：Carbamoyl phosphate synthase II）天門冬胺酸轉胺甲醯酶二氫乳清酸酶膽固醇側鏈解離酶細胞色素b6f複合體（英語：Cytochrome b6f complex）電子傳遞鏈脂肪酸合酶複合體甘胺酸去羧酶複合體（英語：Glycine cleavage system）粒線體三功能蛋白 HADHA（英語：HADHA） HADHB 磷酸烯醇式丙酮酸糖磷酸轉移酶系統（英語：PEP group translocation）聚酮合成酶（英語：Polyketide synthase）蔗糖酶-異麥芽糖酶複合體（英語：Sucrase-isomaltase）色胺酸合成酶（英語：Tryptophan synthase）