Details for: DBT

Gene ID: 1629

Symbol: DBT

Ensembl ID: ENSG00000137992

Description: dihydrolipoamide branched chain transacylase E2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 157.1247
    Cell Significance Index: -24.4400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 95.0547
    Cell Significance Index: -24.1100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 53.2791
    Cell Significance Index: -21.6500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.3981
    Cell Significance Index: -25.1500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.3006
    Cell Significance Index: -24.9200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.4862
    Cell Significance Index: -25.6000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.6233
    Cell Significance Index: -7.9300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.3464
    Cell Significance Index: 18.3700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1553
    Cell Significance Index: 1043.1600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9690
    Cell Significance Index: 194.3800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8551
    Cell Significance Index: 93.0100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8261
    Cell Significance Index: 22.1400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7630
    Cell Significance Index: 137.5400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6690
    Cell Significance Index: 132.7700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6620
    Cell Significance Index: 107.6700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5147
    Cell Significance Index: 184.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4882
    Cell Significance Index: 25.3600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.4289
    Cell Significance Index: 3.9500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4091
    Cell Significance Index: 40.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3778
    Cell Significance Index: 46.4600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3624
    Cell Significance Index: 25.0600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3498
    Cell Significance Index: 26.8400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3232
    Cell Significance Index: 44.3800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3226
    Cell Significance Index: 6.9900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3163
    Cell Significance Index: 218.7700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3161
    Cell Significance Index: 172.6400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2969
    Cell Significance Index: 16.6600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2752
    Cell Significance Index: 7.6900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2559
    Cell Significance Index: 11.3200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2387
    Cell Significance Index: 9.0400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1999
    Cell Significance Index: 9.3200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1863
    Cell Significance Index: 11.7400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1617
    Cell Significance Index: 71.4800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1261
    Cell Significance Index: 24.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0944
    Cell Significance Index: 2.7200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0903
    Cell Significance Index: 15.4200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0628
    Cell Significance Index: 4.2200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0486
    Cell Significance Index: 35.6500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0363
    Cell Significance Index: 23.0800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0340
    Cell Significance Index: 2.0900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0312
    Cell Significance Index: 2.2100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0257
    Cell Significance Index: 3.3000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0255
    Cell Significance Index: 47.9800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0052
    Cell Significance Index: 8.0100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0010
    Cell Significance Index: 1.3700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0001
    Cell Significance Index: 0.2500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0041
    Cell Significance Index: -1.8800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0064
    Cell Significance Index: -0.4200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0081
    Cell Significance Index: -5.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0163
    Cell Significance Index: -12.1000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0166
    Cell Significance Index: -0.5900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0190
    Cell Significance Index: -2.7600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0195
    Cell Significance Index: -14.7500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0240
    Cell Significance Index: -1.0900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0285
    Cell Significance Index: -0.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0338
    Cell Significance Index: -19.0400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0678
    Cell Significance Index: -14.2800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0753
    Cell Significance Index: -21.6800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0866
    Cell Significance Index: -2.0000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0880
    Cell Significance Index: -10.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0946
    Cell Significance Index: -9.6600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1079
    Cell Significance Index: -12.3600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1128
    Cell Significance Index: -13.3000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1174
    Cell Significance Index: -9.3000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1359
    Cell Significance Index: -17.5600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1368
    Cell Significance Index: -2.0200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1385
    Cell Significance Index: -2.9500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1499
    Cell Significance Index: -2.5300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1706
    Cell Significance Index: -8.0200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1736
    Cell Significance Index: -19.8200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1820
    Cell Significance Index: -4.9600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1914
    Cell Significance Index: -10.0500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2032
    Cell Significance Index: -5.8000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2155
    Cell Significance Index: -1.4600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2161
    Cell Significance Index: -22.5000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2188
    Cell Significance Index: -3.7500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2265
    Cell Significance Index: -3.7900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2270
    Cell Significance Index: -16.9200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2280
    Cell Significance Index: -4.4500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2929
    Cell Significance Index: -7.5300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3042
    Cell Significance Index: -10.5700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3133
    Cell Significance Index: -6.8600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3507
    Cell Significance Index: -8.4100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3522
    Cell Significance Index: -18.3500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3616
    Cell Significance Index: -10.6500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3651
    Cell Significance Index: -11.7000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3722
    Cell Significance Index: -7.9000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3785
    Cell Significance Index: -23.2100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4102
    Cell Significance Index: -4.8900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.4160
    Cell Significance Index: -6.1400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.4400
    Cell Significance Index: -11.5700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4433
    Cell Significance Index: -14.1200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4560
    Cell Significance Index: -14.9300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.5016
    Cell Significance Index: -10.0700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5364
    Cell Significance Index: -18.7900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5406
    Cell Significance Index: -10.6900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.5513
    Cell Significance Index: -27.8600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5621
    Cell Significance Index: -14.0500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.5665
    Cell Significance Index: -12.2400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5742
    Cell Significance Index: -21.0800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** DBT is a cytosolic protein that belongs to the alpha-ketoglutarate dehydrogenase complex (α-KGDHC) family. It is a crucial component of the BCKDC enzyme, which is responsible for the degradation of BCAAs, including leucine, isoleucine, and valine. DBT is also involved in the regulation of glyoxylate metabolism and glycine degradation, two important metabolic pathways that contribute to energy production and amino acid homeostasis. The gene is ubiquitously expressed in various tissues, including the brain, kidney, and liver, where it plays a critical role in maintaining metabolic homeostasis. **Pathways and Functions:** DBT is a key player in several metabolic pathways, including: 1. **Branched-chain amino acid catabolism**: DBT is a crucial component of the BCKDC enzyme, which is responsible for the degradation of BCAAs. This process involves the conversion of BCAAs into acyl-CoA derivatives, which are then further metabolized to produce energy. 2. **Glyoxylate metabolism and glycine degradation**: DBT is involved in the regulation of glyoxylate metabolism, a pathway that involves the conversion of glyoxylate into glycine, which is then further metabolized to produce energy. 3. **Mitochondrial protein degradation**: DBT is also involved in the regulation of mitochondrial protein degradation, a process that is critical for maintaining mitochondrial function and preventing protein aggregation. 4. **Neurological signaling**: Recent studies have highlighted the role of DBT in regulating neuronal signaling, including the regulation of glutamatergic transmission and the maintenance of mitochondrial function in neurons. **Clinical Significance:** DBT dysfunction has been implicated in various neurological and metabolic disorders, including: 1. **Maple syrup urine disease (MSUD)**: MSUD is a genetic disorder caused by mutations in the BCKDC gene, which encodes the BCKDC enzyme. DBT dysfunction is a key component of this disorder, leading to the accumulation of toxic branched-chain amino acids in the blood and urine. 2. **Bipolar disorder**: Recent studies have suggested a link between DBT dysfunction and bipolar disorder, a psychiatric disorder characterized by mood instability and cognitive impairment. 3. **Mitochondrial disorders**: DBT dysfunction has also been implicated in various mitochondrial disorders, including MELAS syndrome and Kearns-Sayre syndrome. In conclusion, DBT plays a critical role in various metabolic and neurological processes, including branched-chain amino acid catabolism, glyoxylate metabolism, and protein degradation. Its dysfunction has been implicated in various disorders, including MSUD, bipolar disorder, and mitochondrial disorders. Further research is needed to fully understand the role of DBT in human health and disease.

Genular Protein ID: 1865345329

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 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 4 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 1 PRO 1 PROSITE 3 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 5 RefSeq 1 Rhea 4 SABIO-RK 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 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: 53517
  • Checksum: A6CE6E8D532E10FA
  • 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 GSVSQLSTTD 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 2 AlphaFoldDB 1 Bgee 1 CTD 1 ChEBI 1 DisGeNET 1 EMBL 1 Ensembl 2 GO 1 Gene3D 2 GeneTree 1 HGNC 1 InterPro 5 NCBI Taxonomy 1 PANTHER 2 PROSITE 2 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 3 SMR 1 SUPFAM 2

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.