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 Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 3
    Marker Score: 4,031
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.99
    Marker Score: 3,620
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.86
    Marker Score: 60,988
  • 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: 4,958
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.24
    Marker Score: 9,367
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.16
    Marker Score: 1,420
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.1
    Marker Score: 1,175
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.09
    Marker Score: 31,210
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.05
    Marker Score: 1,580
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.01
    Marker Score: 67,787
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2
    Marker Score: 2,493
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.99
    Marker Score: 1,161
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.97
    Marker Score: 43,928
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.95
    Marker Score: 1,138
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.82
    Marker Score: 1,578
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.8
    Marker Score: 2,077
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.8
    Marker Score: 1,992
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.79
    Marker Score: 7,306
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.79
    Marker Score: 18,445
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.78
    Marker Score: 7,404
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.74
    Marker Score: 13,343
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.74
    Marker Score: 6,727
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.74
    Marker Score: 1,503
  • 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: 15,746
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.65
    Marker Score: 62,614
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.62
    Marker Score: 59,660
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.62
    Marker Score: 99,401
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.61
    Marker Score: 10,324
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.55
    Marker Score: 14,541
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.53
    Marker Score: 13,149
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.53
    Marker Score: 8,221
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.48
    Marker Score: 2,281
  • 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: 6,320
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167,864
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.45
    Marker Score: 4,749
  • 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: 2,707
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.4
    Marker Score: 519
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.39
    Marker Score: 27,638
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.33
    Marker Score: 5,520
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.31
    Marker Score: 6,060
  • 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: 19,721
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.23
    Marker Score: 4,379
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.23
    Marker Score: 1,092
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.23
    Marker Score: 1,392
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.2
    Marker Score: 6,422
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.19
    Marker Score: 3,382
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.18
    Marker Score: 496
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.17
    Marker Score: 2,790
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.17
    Marker Score: 397
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.16
    Marker Score: 4,138
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.16
    Marker Score: 1,252
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.15
    Marker Score: 1,423
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.14
    Marker Score: 1,091
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.14
    Marker Score: 2,691
  • 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: 1,868
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.11
    Marker Score: 913
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.11
    Marker Score: 1,931
  • 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: 2,437
  • 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: 7,649
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.01
    Marker Score: 2,716
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.01
    Marker Score: 2,299
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,725
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1
    Marker Score: 2,027
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,950
  • 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: 30,396
  • 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: 15,197
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,402
  • 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: 1,373
  • 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: 4,870
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.92
    Marker Score: 1,305
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.92
    Marker Score: 1,111
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.91
    Marker Score: 1,484
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,713
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.9
    Marker Score: 289

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** 1. **Enzyme function:** BCKDHB is a component of the branched-chain keto acid dehydrogenase complex, which catalyzes the conversion of branched-chain keto acids to acyl-CoA thiolamides. This reaction is a critical step in the catabolism of BCAAs. 2. **Subunit structure:** BCKDHB is a beta subunit, which forms a heterotetrameric complex with three alpha subunits (BCKDHA) to form the branched-chain keto acid dehydrogenase complex. 3. **Cellular localization:** BCKDHB is primarily localized in the mitochondrial matrix, where it plays a key role in fatty acid metabolism and energy production. 4. **Expression pattern:** BCKDHB is significantly expressed in various cell types, including lens epithelial cells, astrocytes, and fat cells, highlighting its importance in multiple tissues. **Pathways and Functions:** 1. **Branched-chain amino acid catabolism:** BCKDHB is essential for the catabolism of BCAAs, which are metabolized to acetyl-CoA, acetoacetyl-CoA, and acetoacetate. 2. **Glyoxylate metabolism and glycine degradation:** BCKDHB is involved in the metabolism of glyoxylate, a metabolite of glycolysis, and glycine degradation. 3. **Lipid metabolic process:** BCKDHB plays a role in fatty acid metabolism, including the oxidation of fatty acids and the synthesis of acetyl-CoA. 4. **Mitochondrial alpha-ketoglutarate dehydrogenase complex:** BCKDHB is a component of the mitochondrial alpha-ketoglutarate dehydrogenase complex, which is a critical enzyme in the citric acid cycle. **Clinical Significance:** 1. **Metabolic disorders:** Mutations in the BCKDHB gene have been associated with metabolic disorders, including maple syrup urine disease (MSUD) and branched-chain ketoaciduria (BCKA). 2. **Neurological disorders:** BCKDHB has been implicated in neurological disorders, including epilepsy and Alzheimer's disease. 3. **Cancer:** BCKDHB has been shown to play a role in cancer metabolism, including the regulation of fatty acid synthesis and energy production. 4. **Nutritional disorders:** BCKDHB is involved in the regulation of amino acid metabolism, and deficiencies in BCAAs can lead to nutritional disorders, including muscle wasting and weakness. In conclusion, the BCKDHB gene plays a critical role in metabolic pathways, including branched-chain amino acid catabolism, glyoxylate metabolism, and lipid metabolism. Its clinical significance extends to metabolic disorders, neurological disorders, cancer, and nutritional disorders. Further research is needed to fully understand the role of BCKDHB in human health and disease.

Genular Protein ID: 4259112584

Symbol: ODBB_HUMAN

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

UniProtKB Accession Codes:

Database IDs:

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:

Database IDs:

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:

Database IDs:

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. 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.