Details for: DBT

Gene ID: 1629

Symbol: DBT

Ensembl ID: ENSG00000137992

Description: dihydrolipoamide branched chain transacylase E2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.78
    Marker Score: 1638
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168490
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.26
    Marker Score: 10786
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.19
    Marker Score: 11262
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.18
    Marker Score: 1825
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.17
    Marker Score: 3144
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.15
    Marker Score: 70611
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.14
    Marker Score: 24235
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.13
    Marker Score: 1201
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.12
    Marker Score: 41276
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.1
    Marker Score: 10367
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.06
    Marker Score: 10979
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.03
    Marker Score: 597
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.02
    Marker Score: 3955
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.01
    Marker Score: 4124
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71745
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47970
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30398
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.97
    Marker Score: 36885
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.97
    Marker Score: 15155
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2402
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 485
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 439
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.91
    Marker Score: 18075
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2712
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.9
    Marker Score: 2122
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.88
    Marker Score: 1430
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.87
    Marker Score: 754
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4948
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.86
    Marker Score: 12898
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.84
    Marker Score: 6419
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.83
    Marker Score: 1898
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.82
    Marker Score: 3402
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.8
    Marker Score: 2029
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.79
    Marker Score: 1671
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 597
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 305
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.76
    Marker Score: 873
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.74
    Marker Score: 2435
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.73
    Marker Score: 3057.5
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.73
    Marker Score: 4675
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 375
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.72
    Marker Score: 211
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.72
    Marker Score: 507
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.72
    Marker Score: 1058
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.72
    Marker Score: 12717
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2985
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.71
    Marker Score: 1173
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.71
    Marker Score: 3051
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.7
    Marker Score: 469
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 622
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.68
    Marker Score: 159
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.68
    Marker Score: 156
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.67
    Marker Score: 377
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.66
    Marker Score: 3035
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.64
    Marker Score: 439
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.63
    Marker Score: 265
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.63
    Marker Score: 654
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.63
    Marker Score: 677
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.63
    Marker Score: 1204
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.62
    Marker Score: 541
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.62
    Marker Score: 1258
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.61
    Marker Score: 21280.5
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.61
    Marker Score: 5293
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.61
    Marker Score: 640
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.61
    Marker Score: 1330
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.6
    Marker Score: 2141
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.6
    Marker Score: 849
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.6
    Marker Score: 193
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.59
    Marker Score: 589
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.59
    Marker Score: 763
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.59
    Marker Score: 221
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.59
    Marker Score: 596
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.59
    Marker Score: 285
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.58
    Marker Score: 2294
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.58
    Marker Score: 302
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.58
    Marker Score: 3804
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.58
    Marker Score: 144
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.58
    Marker Score: 346
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.58
    Marker Score: 717
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.57
    Marker Score: 12756
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.57
    Marker Score: 164
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.57
    Marker Score: 598
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.56
    Marker Score: 197
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.56
    Marker Score: 672
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.55
    Marker Score: 378.5
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.55
    Marker Score: 224
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.55
    Marker Score: 1891
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.55
    Marker Score: 2032
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.55
    Marker Score: 2943
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.54
    Marker Score: 368
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.54
    Marker Score: 358.5
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.54
    Marker Score: 598
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 431
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.54
    Marker Score: 514
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.53
    Marker Score: 356
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.53
    Marker Score: 246

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Other Information

**Key characteristics** * DBT is a member of the dihydrolipoamide branched chain transacylase family of enzymes. * It is responsible for the transfer of a branched-chain amino acid to a variety of substrates, including malate, pyruvate, and oxaloacetate. * DBT is also involved in the regulation of the mitochondrial matrix and the rho gtpase cycle. **Pathways and functions** DBT is involved in a variety of cellular processes, including: * The biosynthesis of ketone bodies from branched-chain amino acids. * The metabolism of amino acids and proteins. * The regulation of mitochondrial function. **Clinical significance** Mutations in DBT have been linked to a number of human diseases, including: * Cerebrovascular disease * Obesity * Diabetes * Cancer DBT is a promising target for the treatment of these diseases. **Additional information** * DBT is a highly conserved protein, with a similar protein found in other mammals. * It is a regulated gene, with its expression being controlled by a variety of factors, including growth factors, hormones, and cytokines. * DBT inhibitors are currently being investigated as potential treatments for a variety of diseases.

Genular Protein ID: 1525810484

Symbol: ODB2_HUMAN

Name: Branched-chain alpha-keto acid dehydrogenase complex component E2

UniProtKB Accession Codes:

P11182 B2R811 Q5VVL8

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 14 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 3 GeneCards 1 GeneReviews 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 5 PIR 1 PRO 1 PROSITE 3 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 4 SABIO-RK 1 SAM 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1420314

Title: The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 1420314

DOI: 10.1016/0167-4781(92)90169-z

PubMed ID: 3245861

Title: Nucleotide sequence of a cDNA for branched chain acyltransferase with analysis of the deduced protein structure.

PubMed ID: 3245861

DOI: 10.1016/s0021-9258(18)68766-6

PubMed ID: 2708389

Title: Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase.

PubMed ID: 2708389

DOI: 10.1016/s0021-9258(18)83297-5

PubMed ID: 2742576

Title: Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex.

PubMed ID: 2742576

DOI: 10.1016/0006-291x(89)91347-8

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2837277

Title: 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.

PubMed ID: 2837277

DOI: 10.1021/bi00406a025

PubMed ID: 1429740

Title: Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene.

PubMed ID: 1429740

DOI: 10.1016/s0021-9258(18)35950-7

PubMed ID: 7918575

Title: 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.

PubMed ID: 7918575

DOI: 10.1016/0304-4165(94)90161-9

PubMed ID: 2908870

Title: 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.

PubMed ID: 2908870

DOI: 10.1002/hep.1840090110

PubMed ID: 7543435

Title: Autoantibodies to BCOADC-E2 in patients with primary biliary cirrhosis recognize a conformational epitope.

PubMed ID: 7543435

DOI: 10.1016/0270-9139(95)90572-3

PubMed ID: 9141421

Title: Comparative studies of antimitochondrial autoantibodies in sera and bile in primary biliary cirrhosis.

PubMed ID: 9141421

DOI: 10.1002/hep.510250506

PubMed ID: 19411760

Title: Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells.

PubMed ID: 19411760

DOI: 10.1172/jci38151

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22291014

Title: Structural and biochemical characterization of human mitochondrial branched-chain alpha-ketoacid dehydrogenase phosphatase.

PubMed ID: 22291014

DOI: 10.1074/jbc.m111.314963

PubMed ID: 22589535

Title: Tissue-specific and nutrient regulation of the branched-chain alpha-keto acid dehydrogenase phosphatase, protein phosphatase 2Cm (PP2Cm).

PubMed ID: 22589535

DOI: 10.1074/jbc.m112.351031

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 37558654

Title: Small molecule branched-chain ketoacid dehydrogenase kinase (BDK) inhibitors with opposing effects on BDK protein levels.

PubMed ID: 37558654

DOI: 10.1038/s41467-023-40536-y

PubMed ID: 11839747

Title: Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 11839747

DOI: 10.1074/jbc.m110952200

PubMed ID: 1847055

Title: 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.

PubMed ID: 1847055

DOI: 10.1016/0006-291x(91)91489-y

PubMed ID: 9621512

Title: Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 9621512

DOI: 10.1007/s100380050047

Sequence Information:

  • Length: 482
  • Mass: 53487
  • Checksum: A7CA728C8F33D126
  • Sequence:
    • 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

Genular Protein ID: 339211145

Symbol: A0A7P0T9W1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A7P0T9W1

Database IDs:

ARBA 3 AlphaFoldDB 1 Bgee 1 CTD 1 ChEBI 1 EMBL 1 EPD 1 Ensembl 2 GO 3 Gene3D 2 GeneTree 1 HGNC 1 InterPro 4 MaxQB 1 NCBI Taxonomy 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 2 Proteomes 2 RefSeq 3 SMR 1 SUPFAM 2

Citations:

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

Sequence Information:

  • Length: 301
  • Mass: 32977
  • Checksum: 75BD7184C3A2C111
  • Sequence:
    • MENNIKLSEV VGSGKDGRIL KEDILNYLEK QTGAILPPSP KVEIMPPPPK PKDMTVPILV 
SKPPVFTGKD KTEPIKGFQK AMVKTMSAAL KIPHFGYCDE IDLTELVKLR EELKPIAFAR 
GIKLSFMPFF LKAASLGLLQ FPILNASVDE NCQNITYKAS HNIGIAMDTE QGLIVPNVKN 
VQICSIFDIA TELNRLQKLG SVSQLSTTDL TGGTFTLSNI GSIGGTFAKP VIMPPEVAIG 
ALGSIKAIPR FNQKGEVYKA QIMNVSWSAD HRVIDGATMS RFSNLWKSYL ENPAFMLLDL 
K

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.