Details for: BCKDHA

Gene ID: 593

Symbol: BCKDHA

Ensembl ID: ENSG00000248098

Description: branched chain keto acid dehydrogenase E1 subunit alpha

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: myeloid dendritic cell (CL0000782)
    Fold Change: 2.8
    Marker Score: 1698
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 2.07
    Marker Score: 1461
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.98
    Marker Score: 581
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 1.85
    Marker Score: 5210.5
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.79
    Marker Score: 3390.5
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.74
    Marker Score: 1394
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.42
    Marker Score: 2480
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.37
    Marker Score: 1433
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.35
    Marker Score: 809
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.31
    Marker Score: 2715
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.28
    Marker Score: 20093
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 1.21
    Marker Score: 472
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.21
    Marker Score: 7325
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.18
    Marker Score: 2401.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 1.18
    Marker Score: 3534
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.15
    Marker Score: 830
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 1.13
    Marker Score: 1138
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.12
    Marker Score: 358
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.1
    Marker Score: 1118
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.07
    Marker Score: 1419
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 1.05
    Marker Score: 32688
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71796
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48020
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.98
    Marker Score: 541.5
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.98
    Marker Score: 1226
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 499
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 454
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.92
    Marker Score: 2345
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.9
    Marker Score: 609.5
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.87
    Marker Score: 587
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.86
    Marker Score: 2341
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.83
    Marker Score: 5328
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.82
    Marker Score: 391
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.77
    Marker Score: 4411
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.77
    Marker Score: 248
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 564
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.74
    Marker Score: 553.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3069
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.73
    Marker Score: 291
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.71
    Marker Score: 249
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.69
    Marker Score: 736
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 175
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 623
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.67
    Marker Score: 235
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.66
    Marker Score: 1075
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.65
    Marker Score: 288
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.64
    Marker Score: 7463
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.64
    Marker Score: 257
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.63
    Marker Score: 196
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.62
    Marker Score: 4033.5
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.62
    Marker Score: 885
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.61
    Marker Score: 6147
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.59
    Marker Score: 597
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.56
    Marker Score: 1663
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.56
    Marker Score: 3315
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.55
    Marker Score: 506
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.55
    Marker Score: 846
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 0.55
    Marker Score: 1333
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.54
    Marker Score: 177
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.54
    Marker Score: 343.5
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.53
    Marker Score: 389
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.53
    Marker Score: 425
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 0.53
    Marker Score: 498
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 0.53
    Marker Score: 431
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.53
    Marker Score: 262
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.52
    Marker Score: 1214
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.51
    Marker Score: 145
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 0.51
    Marker Score: 299
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.51
    Marker Score: 293
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.51
    Marker Score: 548
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 0.51
    Marker Score: 2173
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.5
    Marker Score: 207
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.5
    Marker Score: 27695
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.5
    Marker Score: 311
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.49
    Marker Score: 696
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.48
    Marker Score: 482
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 0.47
    Marker Score: 841
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.47
    Marker Score: 921
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.46
    Marker Score: 123
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.46
    Marker Score: 211
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 0.46
    Marker Score: 405
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 0.46
    Marker Score: 1449
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.46
    Marker Score: 272
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.46
    Marker Score: 3926
  • Cell Name: centroblast (CL0009112)
    Fold Change: 0.45
    Marker Score: 223
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.45
    Marker Score: 5962
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: 0.45
    Marker Score: 499
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.45
    Marker Score: 242
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.45
    Marker Score: 221
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.45
    Marker Score: 4230
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.44
    Marker Score: 655
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.44
    Marker Score: 1247
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.44
    Marker Score: 1204.5
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 0.44
    Marker Score: 388
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 0.44
    Marker Score: 364
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.44
    Marker Score: 320
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.43
    Marker Score: 1125
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.43
    Marker Score: 215

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Other Information

**Key characteristics:** * BCKDHA is a multi-functional enzyme that performs several different biochemical functions. * It is involved in the metabolism of glutamine, the biosynthesis of BCAAs, and the degradation of glycine. * It is a key enzyme in the citric acid cycle, where it participates in the production of acetyl-CoA, which is used in the synthesis of BCAAs. * It is also involved in the regulation of inflammation and apoptosis. **Pathways and functions:** * BCKDHA is involved in the biosynthesis of BCAAs from glutamine. * It is also involved in the degradation of glycine and other amino acids. * It plays a role in the regulation of inflammation and apoptosis. **Clinical significance:** * Mutations in the BCKDHA gene have been linked to several human diseases, including cancer and metabolic disorders. * BCKDHA inhibitors are being investigated as potential treatments for these diseases. **Additional notes:** * BCKDHA is a highly conserved protein, with a similar sequence in mammals, birds, and fish. * It is a member of the branched-chain alpha-keto acid dehydrogenase (BCAK) family of enzymes. * BCKDHA is a ubiquitin-dependent protein that is regulated by the proteasome.

Genular Protein ID: 1030522781

Symbol: ODBA_HUMAN

Name: Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain

UniProtKB Accession Codes:

P12694 B4DP47 E7EW46 Q16034 Q16472

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 21 ChiTaRS 1 ComplexPortal 1 DIP 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 31 PDBsum 24 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 4 SABIO-RK 1 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1420356

Title: Nucleotide sequence of the 5' end including the initiation codon of cDNA for the E1 alpha subunit of the human branched chain alpha-ketoacid dehydrogenase complex.

PubMed ID: 1420356

DOI: 10.1016/0167-4781(92)90149-t

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 2914958

Title: Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex.

PubMed ID: 2914958

DOI: 10.1016/s0021-9258(18)94087-1

PubMed ID: 2060625

Title: Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 2060625

DOI: 10.1016/0014-5793(91)80755-r

PubMed ID: 1682165

Title:

PubMed ID: 1682165

DOI: 10.1016/0014-5793(91)81324-2

PubMed ID: 3224821

Title: Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase.

PubMed ID: 3224821

DOI: 10.1016/0378-1119(88)90390-3

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: 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: 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: 10745006

Title: Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.

PubMed ID: 10745006

DOI: 10.1016/s0969-2126(00)00105-2

PubMed ID: 8037208

Title: Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 8037208

PubMed ID: 2703538

Title: Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

PubMed ID: 2703538

DOI: 10.1172/jci114033

PubMed ID: 2241958

Title: A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.

PubMed ID: 2241958

DOI: 10.1016/0006-291x(90)90723-z

PubMed ID: 1867199

Title: Occurrence of a Tyr393-->Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

PubMed ID: 1867199

PubMed ID: 1885764

Title: Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 1885764

DOI: 10.1172/jci115363

PubMed ID: 8161368

Title: 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.

PubMed ID: 8161368

DOI: 10.1016/0925-4439(93)90123-i

PubMed ID: 7883996

Title: Molecular and biochemical basis of intermediate maple syrup urine disease: occurrence of homozygous G245R and F364C mutations at the E1-alpha locus of Hispanic-Mexican patients.

PubMed ID: 7883996

DOI: 10.1172/jci117804

PubMed ID: 9582350

Title: Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.

PubMed ID: 9582350

DOI: 10.1074/jbc.273.21.13110

PubMed ID: 21844576

Title: Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.

PubMed ID: 21844576

Sequence Information:

  • Length: 445
  • Mass: 50471
  • Checksum: 2B4DD658924DB0C3
  • Sequence:
    • MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE 
FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY 
ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG 
NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA 
ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG 
NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE VNYWDKQDHP 
ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK PKPNPNLLFS DVYQEMPAQL 
RKQQESLARH LQTYGEHYPL DHFDK

Genular Protein ID: 1639317202

Symbol: Q59EI3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59EI3

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 6 DNASU 1 EC 1 EMBL 2 GO 2 Gene3D 1 Genevisible 1 GenomeRNAi 1 InterPro 2 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 Rhea 4 RuleBase 1 SAM 1 SUPFAM 1

Sequence Information:

  • Length: 444
  • Mass: 50400
  • Checksum: C5A54AFF6AB9BF87
  • Sequence:
    • MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE 
FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY 
ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG 
NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA 
ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIARGPGY GIMSIRVDGN 
DVFAVYNATK EARRRAVAEN QPFLIEAMTY RIGHHSTSDD SSAYRSVDEV NYWDKQDHPI 
SRLRHYLLSQ GWWDEEQEKA WRKQSRRKVM EAFEQAERKP KPNPNLLFSD VYQEMPAQLR 
KQQESLARHL QTYGEHYPLD HFDK

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.