Property Summary

NCBI Gene PubMed Count 40
PubMed Score 229.69
PubTator Score 149.34

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (21)

Disease log2 FC p
gastric cancer 1.300 8.8e-04
hepatocellular carcinoma 1.100 1.3e-05
Multiple myeloma -1.466 1.5e-02
astrocytic glioma 1.600 7.4e-03
ependymoma 1.700 1.7e-03
oligodendroglioma 1.600 1.1e-03
esophageal adenocarcinoma 1.100 2.3e-02
psoriasis 1.300 1.5e-04
osteosarcoma 2.473 1.3e-04
atypical teratoid / rhabdoid tumor -1.500 3.6e-06
glioblastoma -1.600 1.8e-05
medulloblastoma -1.200 1.8e-05
medulloblastoma, large-cell -1.500 2.4e-05
primitive neuroectodermal tumor -1.200 3.2e-04
pancreatic ductal adenocarcinoma liver m... 2.275 1.8e-03
lung cancer 1.100 4.3e-02
interstitial cystitis -1.300 1.0e-02
pediatric high grade glioma -1.100 1.0e-03
aldosterone-producing adenoma -1.477 1.3e-02
Pick disease 1.100 1.6e-07
ovarian cancer -1.300 9.4e-04

Protein-protein Interaction (3)

Gene RIF (12)

PMID Text
24268812 The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved.
23313820 Deletion in DBT gene is associated with maple syrup urine disease.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20570198 4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein
19480318 In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene.
18533943 Examination of the deletion mutation in the E2 (DBT) gene facilitated early MSUD diagnosis and was beneficial for the determination of the proper course of treatment.
18378174 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time.
17922217 in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes
16861235 presence of the interdomain linker restricts the motional freedom of the hbSBD more significantly than hbLBD, and that the linker region likely exists as a soft rod rather than a flexible string in solution.
14768949 a distinct subset of antimitochondrial antibodies recognize sequences on branched-chain acyltransferase which located outside of the lipoyl binding domain, in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis
11509994 Mutation in DBT causes a subset of maple syrup urine disease in Ashkenazi Jewish population.
11448970 two novel type IB MSUD mutations in Israeli patients, which affect the E1beta subunit in the decarboxylase (E1) component of the branched-chain alpha-ketoacid dehydrogenase complex

AA Sequence

MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAALRGQVVQFKLS      1 - 70
DIGEGIREVTVKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIET     71 - 140
EALKDSEEDVVETPAVSHDEHTHQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNYLE    141 - 210
KQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQKAMVKTMSAALKIPHFGYCD    211 - 280
EIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKASHNIGIAMDT    281 - 350
EQGLIVPNVKNVQICSIFDIATELNRLQKLGSVGQLSTTDLTGGTFTLSNIGSIGGTFAKPVIMPPEVAI    351 - 420
GALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK            421 - 482
//

Text Mined References (48)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24268812 2014 Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan.
23313820 2013 Molecular characterization of maple syrup urine disease patients from Tunisia.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20570198 2010 Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
19725078 2009 Proteomic analysis of increased Parkin expression and its interactants provides evidence for a role in modulation of mitochondrial function.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19480318 Molecular genetics of maple syrup urine disease in the Turkish population.
18533943 2008 Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
18378174 2008 Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
18063578 2008 The layered structure of human mitochondrial DNA nucleoids.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17922217 2007 Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16861235 2006 Structure of the subunit binding domain and dynamics of the di-domain region from the core of human branched chain alpha-ketoacid dehydrogenase complex.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14768949 Characterization of a lipoyl domain-independent B-cell autoepitope on the human branched-chain acyltransferase in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11839747 2002 Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex.
11509994 2001 Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.
11448970 2001 Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.
9621512 1998 Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
9141421 1997 Comparative studies of antimitochondrial autoantibodies in sera and bile in primary biliary cirrhosis.
8430702 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.
7918575 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.
7672509 1995 Mammalian alpha-keto acid dehydrogenase complexes: gene regulation and genetic defects.
7543435 1995 Autoantibodies to BCOADC-E2 in patients with primary biliary cirrhosis recognize a conformational epitope.
6895847 1981 Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects.
3245861 1988 Nucleotide sequence of a cDNA for branched chain acyltransferase with analysis of the deduced protein structure.
3189339 1988 Mitochondrial import and processing of an in vitro synthesized human prebranched chain acyltransferase fragment.
2932110 1985 Identification of a cDNA clone in lambda gt11 for the transacylase component of branched chain ketoacid dehydrogenase.
2908870 1989 Reactivity of primary biliary cirrhosis sera with a human fetal liver cDNA clone of branched-chain alpha-keto acid dehydrogenase dihydrolipoamide acyltransferase, the 52 kD mitochondrial autoantigen.
2837277 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.
2742576 1989 Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex.
2708389 1989 Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase.
2010537 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.
2001734 1991 Premature termination of transcription and alternative splicing in the human transacylase (E2) gene of the branched-chain alpha-ketoacid dehydrogenase complex.
1990841 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.
1943690 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.
1889817 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.
1847055 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.
1429740 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.
1420314 1992 The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex.