BCKDHB

BCKDHB
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 1DTW, 1OLS, 1OLU, 1OLX, 1U5B, 1V11, 1V16, 1V1M, 1V1R, 1WCI, 1X7W, 1X7X, 1X7Y, 1X7Z, 1X80, 2BEU, 2BEV, 2BEW, 2BFB, 2BFC, 2BFD, 2BFE, 2BFF, 2J9F
Identifikatori
Aliasi	BCKDHB
Vanjski ID-jevi	OMIM: 248611 MGI: 88137 HomoloGene: 39 GeneCards: BCKDHB
Lokacija gena (čovjek) Hrom. Hromosom 6 (čovjek) Bend 6q14.1 Početak 80,106,647 bp Kraj 80,346,270 bp
Lokacija gena (miš) Hrom. Hromosom 9 (miš) Bend 9|9 E2 Početak 83,807,198 bp Kraj 84,006,293 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • oxidoreductase activity • GO:0001948, GO:0016582 vezivanje za proteine • 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity • catalytic activity Ćelijska komponenta • mitochondrial matrix • mitochondrial alpha-ketoglutarate dehydrogenase complex • mitohondrija Biološki proces • metabolizam • branched-chain amino acid catabolic process • response to nutrient Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	594	12040
Ensembl	ENSG00000083123	ENSMUSG00000032263
UniProt	P21953	Q6P3A8
RefSeq (mRNK)	NM_000056 NM_183050 NM_001318975	NM_199195 NM_001305935
RefSeq (bjelančevina)	NP_000047 NP_001305904 NP_898871	NP_001292864 NP_954665
Lokacija (UCSC)	Chr 6: 80.11 – 80.35 Mb	Chr 9: 83.81 – 84.01 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Mitohondrijska podjedinica beta 2-oksoizovalerat-dehidrogenaze jest enzim koji je kod ljudi kodiran genom BCKDHB.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 392 aminokiseline, а molekulska težina 43 122 Da.

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MAVVAAAAGW		LLRLRAAGAE		GHWRRLPGAG		LARGFLHPAA		TVEDAAQRRQ
VAHFTFQPDP		EPREYGQTQK		MNLFQSVTSA		LDNSLAKDPT		AVIFGEDVAF
GGVFRCTVGL		RDKYGKDRVF		NTPLCEQGIV		GFGIGIAVTG		ATAIAEIQFA
DYIFPAFDQI		VNEAAKYRYR		SGDLFNCGSL		TIRSPWGCVG		HGALYHSQSP
EAFFAHCPGI		KVVIPRSPFQ		AKGLLLSCIE		DKNPCIFFEP		KILYRAAAEE
VPIEPYNIPL		SQAEVIQEGS		DVTLVAWGTQ		VHVIREVASM		AKEKLGVSCE
VIDLRTIIPW		DVDTICKSVI		KTGRLLISHE		APLTGGFASE		ISSTVQEECF
LNLEAPISRV		CGYDTPFPHI		FEPFYIPDKW		KCYDALRKMI		NY

Funkcija

Dehidrogenaza keto kiseline s razgranatim lancem je multienzimski kompleks povezan sa unutrašnjom mitohondrijskom membranom, a funkcionira u katabolizmu aminokiselina razgranatog lanca. Kompleks se sastoji od više kopija tri komponente: dekarboksilaze razgranatog lanca alfa-keto kiseline (E1), lipoamid aciltransferaze (E2) i lipoamid dehidrogenaze (E3). Ovaj gen kodira podjedinicu E1 beta, a njegove mutacije su povezane s bolest mokraće s mirisom javorovog sirupa (MSUD), tip 1B. Alternativna prerada na ovom mjestu rezultira varijantama transkripta s tri različita nekodirajuća područja, ali kodiraju iste izoforme.

Dopunska literatura

• Popov KM, Zhao Y, Shimomura Y, et al. (1992). "Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases". J. Biol. Chem. 267 (19): 13127–30. doi:10.1016/S0021-9258(18)42179-5. PMID 1377677.
• Mitsubuchi H, Nobukuni Y, Endo F, Matsuda I (1991). "Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase". J. Biol. Chem. 266 (22): 14686–91. doi:10.1016/S0021-9258(18)98740-5. PMID 1860867.
• Zneimer SM, Lau KS, Eddy RL, et al. (1991). "Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31". Genomics. 10 (3): 740–7. doi:10.1016/0888-7543(91)90458-Q. PMID 1889817.
• Nobukuni Y, Mitsubuchi H, Akaboshi I, et al. (1991). "Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease". J. Clin. Invest. 87 (5): 1862–6. doi:10.1172/JCI115209. PMC 295312. PMID 2022752.
• Chuang JL, Cox RP, Chuang DT (1990). "Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex". FEBS Lett. 262 (2): 305–9. doi:10.1016/0014-5793(90)80215-5. PMID 2335211. S2CID 84069883.
• Nobukuni Y, Mitsubuchi H, Endo F, et al. (1990). "Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease". J. Clin. Invest. 86 (1): 242–7. doi:10.1172/JCI114690. PMC 296713. PMID 2365818.
• Wynn RM, Kochi H, Cox RP, Chuang DT (1994). "Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence". Biochim. Biophys. Acta. 1201 (1): 125–8. doi:10.1016/0304-4165(94)90161-9. PMID 7918575.
• Nobukuni Y, Mitsubuchi H, Hayashida Y, et al. (1993). "Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex". Biochim. Biophys. Acta. 1225 (1): 64–70. doi:10.1016/0925-4439(93)90123-i. PMID 8161368.
• Chuang JL, Cox RP, Chuang DT (1996). "Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences". Am. J. Hum. Genet. 58 (6): 1373–7. PMC 1915070. PMID 8651316.
• Edelmann L, Wasserstein MP, Kornreich R, et al. (2001). "Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population". Am. J. Hum. Genet. 69 (4): 863–8. doi:10.1086/323677. PMC 1226071. PMID 11509994.
• Chang CF, Chou HT, Chuang JL, et al. (2002). "Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex". J. Biol. Chem. 277 (18): 15865–73. doi:10.1074/jbc.M110952200. PMID 11839747.
• 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. USA. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Wynn RM, Machius M, Chuang JL, et al. (2003). "Roles of His291-alpha and His146-beta' in the reductive acylation reaction catalyzed by human branched-chain alpha-ketoacid dehydrogenase: refined phosphorylation loop structure in the active site". J. Biol. Chem. 278 (44): 43402–10. doi:10.1074/jbc.M306204200. PMID 12902323.
• Li J, Wynn RM, Machius M, et al. (2004). "Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase". J. Biol. Chem. 279 (31): 32968–78. doi:10.1074/jbc.M403611200. PMID 15166214.
• 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.
• Machius M, Wynn RM, Chuang JL, et al. (2006). "A versatile conformational switch regulates reactivity in human branched-chain alpha-ketoacid dehydrogenase". Structure. 14 (2): 287–98. doi:10.1016/j.str.2005.10.009. PMID 16472748.
• Li J, Machius M, Chuang JL, et al. (2007). "The two active sites in human branched-chain alpha-keto acid dehydrogenase operate independently without an obligatory alternating-site mechanism". J. Biol. Chem. 282 (16): 11904–13. doi:10.1074/jbc.M610843200. PMID 17329260.

Vanjski linkovi

• Lokacija ljudskog genoma BCKDHB i stranica sa detaljima o genu BCKDHB u UCSC Genome Browseru.