DBT (gen)

DBT
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1K8M, 1K8O, 1ZWV, 2COO, 3RNM
Identifikatori
Aliasi	DBT
Vanjski ID-jevi	OMIM: 248610 MGI: 105386 HomoloGene: 1444 GeneCards: DBT
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	100,249,834 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	116,343,630 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• acyltransferase activity; • ubiquitin protein ligase binding; • aktivnost sa transferazom; • dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity; • acetyltransferase activity; • lipoic acid binding;
Ćelijska komponenta	• mitochondrial matrix; • mitochondrial alpha-ketoglutarate dehydrogenase complex; • mitochondrial nucleoid; • mitohondrija; • citoplazma;
Biološki proces	• metabolizam; • branched-chain amino acid catabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	1629
	13171
	ENSG00000137992
	ENSMUSG00000000340
	P11182
	P53395
	NM_001918
	NM_010022; NM_001357344
	NP_001909
	NP_034152; NP_001344273
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Mitohondrijska lipoamid-aciltransferazna komponenta razgranatolančanog kompleksa alfa-keto kisele dehidrogenaze jest enzim koji je kod ljudi kodiran genom DBT sa hromosoma 1.^[5]^[6]^[7]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 482 aminokiselina, a molekulska težina 53.487 Da.^[8]

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
MAAVRMLRTW	SRNAGKLICV	RYFQTCGNVH	VLKPNYVCFF	GYPSFKYSHP
HHFLKTTAAL	RGQVVQFKLS	DIGEGIREVT	VKEWYVKEGD	TVSQFDSICE
VQSDKASVTI	TSRYDGVIKK	LYYNLDDIAY	VGKPLVDIET	EALKDSEEDV
VETPAVSHDE	HTHQEIKGRK	TLATPAVRRL	AMENNIKLSE	VVGSGKDGRI
LKEDILNYLE	KQTGAILPPS	PKVEIMPPPP	KPKDMTVPIL	VSKPPVFTGK
DKTEPIKGFQ	KAMVKTMSAA	LKIPHFGYCD	EIDLTELVKL	REELKPIAFA
RGIKLSFMPF	FLKAASLGLL	QFPILNASVD	ENCQNITYKA	SHNIGIAMDT
EQGLIVPNVK	NVQICSIFDI	ATELNRLQKL	GSVGQLSTTD	LTGGTFTLSN
IGSIGGTFAK	PVIMPPEVAI	GALGSIKAIP	RFNQKGEVYK	AQIMNVSWSA
DHRVIDGATM	SRFSNLWKSY	LENPAFMLLD	LK

Funkcija

Kompleks dehidrogenaze razgranatog lanca alfa-keto kiseline (BCKD) je unutrašnji mitohondrijski enzimski kompleks koji je uključen u razgradnju aminokiselina razgranatog lanca izoleucina, leucina i valina. Smatra se da je BCKD kompleks sastavljen od jezgra od 24 transacilazne (E2) podjedinice i pridružene dekarboksilaze (E1), dehidrogenaze (E3) i regulatornih podjedinica. Ovaj gen kodira transacilaznu (E2) podjedinicu. Mutacije u ovom genu rezultiraju bolešću s urinom boje javorovog sirupa, tip 2. Opisanw su alternativno prerađene varijante transkripta, ali njihova biološka valjanost nije utvrđena.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000137992 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000000340 - Ensembl, maj 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.
^ Lau KS, Chuang JL, Herring WJ, Danner DJ, Cox RP, Chuang DT (Dec 1992). "The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex". Biochim Biophys Acta. 1132 (3): 319–21. doi:10.1016/0167-4781(92)90169-z. PMID 1420314.
^ Lau KS, Herring WJ, Chuang JL, McKean M, Danner DJ, Cox RP, Chuang DT (Dec 1992). "Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene". J Biol Chem. 267 (33): 24090–6. doi:10.1016/S0021-9258(18)35950-7. PMID 1429740.
^ ^a ^b "Entrez Gene: DBT dihydrolipoamide branched chain transacylase E2".
^ "UniProt, P11182" (jezik: engleski). Pristupljeno 24. 11. 2021.

Dopunska literatura

Patel MS, Harris RA (1995). "Mammalian alpha-keto acid dehydrogenase complexes: gene regulation and genetic defects". FASEB J. 9 (12): 1164–72. doi:10.1096/fasebj.9.12.7672509. PMID 7672509. S2CID 25326935.
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.
Fisher CW, Lau KS, Fisher CR, et al. (1991). "A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34". Biochem. Biophys. Res. Commun. 174 (2): 804–9. doi:10.1016/0006-291X(91)91489-Y. PMID 1847055.
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.
Chuang DT, Fisher CW, Lau KS, et al. (1991). "Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex". Mol. Biol. Med. 8 (1): 49–63. PMID 1943690.
Herring WJ, Litwer S, Weber JL, Danner DJ (1991). "Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1". Am. J. Hum. Genet. 48 (2): 342–50. PMC 1683011. PMID 1990841.
Lau KS, Lee J, Fisher CW, et al. (1991). "Premature termination of transcription and alternative splicing in the human transacylase (E2) gene of the branched-chain alpha-ketoacid dehydrogenase complex". FEBS Lett. 279 (2): 229–32. doi:10.1016/0014-5793(91)80155-V. PMID 2001734.
Mitsubuchi H, Nobukuni Y, Akaboshi I, et al. (1991). "Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region". J. Clin. Invest. 87 (4): 1207–11. doi:10.1172/JCI115120. PMC 295137. PMID 2010537.
Danner DJ, Litwer S, Herring WJ, Pruckler J (1989). "Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase". J. Biol. Chem. 264 (13): 7742–6. doi:10.1016/S0021-9258(18)83297-5. PMID 2708389.
Nobukuni Y, Mitsubuchi H, Endo F, Matsuda I (1989). "Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex". Biochem. Biophys. Res. Commun. 161 (3): 1035–41. doi:10.1016/0006-291X(89)91347-8. PMID 2742576.
Lau KS, Griffin TA, Hu CW, Chuang DT (1988). "Conservation of primary structure in the lipoyl-bearing and dihydrolipoyl dehydrogenase binding domains of mammalian branched-chain alpha-keto acid dehydrogenase complex: molecular cloning of human and bovine transacylase (E2) cDNAs". Biochemistry. 27 (6): 1972–81. doi:10.1021/bi00406a025. PMID 2837277.
Litwer S, Danner DJ (1985). "Identification of a cDNA clone in lambda gt11 for the transacylase component of branched chain ketoacid dehydrogenase". Biochem. Biophys. Res. Commun. 131 (2): 961–7. doi:10.1016/0006-291X(85)91333-6. PMID 2932110.
Litwer S, Danner DJ (1988). "Mitochondrial import and processing of an in vitro synthesized human prebranched chain acyltransferase fragment". Am. J. Hum. Genet. 43 (5): 764–9. PMC 1715554. PMID 3189339.
Hummel KB, Litwer S, Bradford AP, et al. (1988). "Nucleotide sequence of a cDNA for branched chain acyltransferase with analysis of the deduced protein structure". J. Biol. Chem. 263 (13): 6165–8. doi:10.1016/S0021-9258(18)68766-6. PMID 3245861.
Chuang DT, Niu WL, Cox RP (1982). "Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects". Biochem. J. 200 (1): 59–67. doi:10.1042/bj2000059. PMC 1163502. PMID 6895847.
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.
Fisher CW, Fisher CR, Chuang JL, et al. (1993). "Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations". Am. J. Hum. Genet. 52 (2): 414–24. PMC 1682180. PMID 8430702.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000137992 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000000340 - Ensembl, maj 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.

[pmid1420314-5] Lau KS, Chuang JL, Herring WJ, Danner DJ, Cox RP, Chuang DT (Dec 1992). "The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex". Biochim Biophys Acta. 1132 (3): 319–21. doi:10.1016/0167-4781(92)90169-z. PMID 1420314.

[pmid1429740-6] Lau KS, Herring WJ, Chuang JL, McKean M, Danner DJ, Cox RP, Chuang DT (Dec 1992). "Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene". J Biol Chem. 267 (33): 24090–6. doi:10.1016/S0021-9258(18)35950-7. PMID 1429740.

[entrez-7] "Entrez Gene: DBT dihydrolipoamide branched chain transacylase E2".

[UniProt-8] "UniProt, P11182" (jezik: engleski). Pristupljeno 24. 11. 2021.

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