Details for: BCKDHB

Gene ID: 594

Symbol: BCKDHB

Ensembl ID: ENSG00000083123

Description: branched chain keto acid dehydrogenase E1 subunit beta

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: anterior lens cell (CL0002223)
    Fold Change: 3
    Marker Score: 4030.5
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.99
    Marker Score: 3620
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.86
    Marker Score: 60988
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.82
    Marker Score: 825
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.26
    Marker Score: 4958
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.24
    Marker Score: 9367
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.16
    Marker Score: 1420
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.1
    Marker Score: 1174.5
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.09
    Marker Score: 31210
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.05
    Marker Score: 1580
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.01
    Marker Score: 67787
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2
    Marker Score: 2493
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.99
    Marker Score: 1161
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.97
    Marker Score: 43928
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.95
    Marker Score: 1138
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.82
    Marker Score: 1578
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.8
    Marker Score: 2077
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.8
    Marker Score: 1992
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.79
    Marker Score: 7306
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.79
    Marker Score: 18445
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.78
    Marker Score: 7404
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.74
    Marker Score: 13343
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.74
    Marker Score: 6727
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.74
    Marker Score: 1503
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.68
    Marker Score: 531
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.66
    Marker Score: 15746
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.65
    Marker Score: 62614
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.62
    Marker Score: 59660
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.62
    Marker Score: 99401
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.61
    Marker Score: 10324
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.55
    Marker Score: 14540.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.53
    Marker Score: 13149
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.53
    Marker Score: 8220.5
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.48
    Marker Score: 2281
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.48
    Marker Score: 777
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.46
    Marker Score: 6320
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167864
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.45
    Marker Score: 4749
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.42
    Marker Score: 518
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.41
    Marker Score: 2707
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.4
    Marker Score: 519
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.39
    Marker Score: 27638
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.33
    Marker Score: 5519.5
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.31
    Marker Score: 6060
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.28
    Marker Score: 718
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.26
    Marker Score: 19721
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.23
    Marker Score: 4379
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.23
    Marker Score: 1092
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.23
    Marker Score: 1392
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.2
    Marker Score: 6422
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.19
    Marker Score: 3382
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.18
    Marker Score: 496
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.17
    Marker Score: 2790
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.17
    Marker Score: 396.5
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.16
    Marker Score: 4138
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.16
    Marker Score: 1251.5
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.15
    Marker Score: 1423
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.14
    Marker Score: 1091
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.14
    Marker Score: 2691
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.14
    Marker Score: 300
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.13
    Marker Score: 359
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.11
    Marker Score: 1868
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.11
    Marker Score: 913
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.11
    Marker Score: 1931
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.1
    Marker Score: 411
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.09
    Marker Score: 656
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.08
    Marker Score: 866
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.08
    Marker Score: 415
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.07
    Marker Score: 744
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.06
    Marker Score: 800
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.06
    Marker Score: 2437
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.05
    Marker Score: 518
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.04
    Marker Score: 507
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.04
    Marker Score: 377
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.04
    Marker Score: 576
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.03
    Marker Score: 208
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.01
    Marker Score: 7649
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.01
    Marker Score: 2716
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.01
    Marker Score: 2299
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71725
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1
    Marker Score: 2027
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47950
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.99
    Marker Score: 577
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.98
    Marker Score: 311
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30396
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.97
    Marker Score: 266
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 488
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.95
    Marker Score: 15197
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2402
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.94
    Marker Score: 468
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 443
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.93
    Marker Score: 983
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.93
    Marker Score: 1373
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.93
    Marker Score: 635
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.93
    Marker Score: 4869.5
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.92
    Marker Score: 1305
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.92
    Marker Score: 1111
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.91
    Marker Score: 1484
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2713
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.9
    Marker Score: 289

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Other Information

## Summary BCKDHB is a protein that is involved in the metabolism of branched-chain fatty acids (BCFA). It is expressed in a variety of cell types, including lens epithelial cells, astrocytes, ciliary epithelial cells, and renal principal cells. ## Key characteristics * BCKDHB is a protein of the mitochondrial matrix. * It is a key enzyme in the biosynthesis of 3-methyl-2-oxobutanoate, which is an intermediate in the metabolism of branched-chain fatty acids. * It is also involved in the degradation of other branched-chain fatty acid derivatives. ## Pathways and functions * BCKDHB is involved in the following pathways: * Branched-chain amino acid catabolism * Glyoxylate metabolism * Lipid metabolic process * Metabolism of amino acids and derivatives * Mitochondrial matrix * It is also involved in the response to camp and the response to glucocorticoids. ## Clinical significance BCKDHB is a potential therapeutic target for a variety of diseases, including diabetic retinopathy, obesity, and cancer. Studies have shown that BCKDHB inhibitors can reduce inflammation and promote the progression of these diseases.

Genular Protein ID: 4259112584

Symbol: ODBB_HUMAN

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

UniProtKB Accession Codes:

P21953 Q5T2J3 Q9BQL0

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 13 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 13 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 27 PDBsum 24 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 2 RefSeq 3 Rhea 4 SABIO-RK 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2365818

Title: Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.

PubMed ID: 2365818

DOI: 10.1172/jci114690

PubMed ID: 8651316

Title: Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.

PubMed ID: 8651316

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 2335211

Title: Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex.

PubMed ID: 2335211

DOI: 10.1016/0014-5793(90)80215-5

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: 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: 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: 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: 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: 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: 11509994

Title: Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

PubMed ID: 11509994

DOI: 10.1086/323677

PubMed ID: 22326532

Title: Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).

PubMed ID: 22326532

DOI: 10.1016/j.gene.2012.01.082

Sequence Information:

  • Length: 392
  • Mass: 43122
  • Checksum: D78097834D063BB7
  • Sequence:
    • MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP 
EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF 
NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL 
TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP 
KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE 
VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV 
CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY

Genular Protein ID: 3357021263

Symbol: B4E2N3_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4E2N3

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 6 DNASU 1 EC 1 EMBL 2 GO 1 Gene3D 2 GenomeRNAi 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 RefSeq 1 Rhea 4 SMART 2 SUPFAM 2

Sequence Information:

  • Length: 322
  • Mass: 35493
  • Checksum: CFB7DF596ED02A75
  • Sequence:
    • MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF NTPLCEQGIV 
GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL TIRSPWGCVG 
HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP KILYRAAAEE 
VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE VIDLRTIIPW 
DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVLEECF LNLEAPISRV CGYDTPFPHI 
FEPFYIPDKW KCYDALRKMI NY

Genular Protein ID: 66381409

Symbol: B7ZB80_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZB80

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 6 DNASU 1 EC 1 EMBL 2 GO 1 Gene3D 2 GenomeRNAi 1 InterPro 4 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 ProteomicsDB 1 RefSeq 2 Rhea 4 SMART 2 SUPFAM 2

Sequence Information:

  • Length: 322
  • Mass: 35508
  • Checksum: F4CEEF596ED031FF
  • Sequence:
    • MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF NTPLCEQGIV 
GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL TIRSPWGCVG 
HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP KILYRAAAEE 
VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE VIDLRTIIPW 
DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV CGYDTPFPHI 
FEPFYIPDKW KCYDALRKMI NY

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.