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BCKDHB

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
BCKDHB
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

1DTW,1OLS,1OLU,1OLX,1U5B,1V11,1V16,1V1M,1V1R,1WCI,1X7W,1X7X,1X7Y,1X7Z,1X80,2BEU,2BEV,2BEW,2BFB,2BFC,2BFD,2BFE,2BFF,2J9F

Identifiers
AliasesBCKDHB, E1B, dJ279A18.1, BCKDE1B, BCKDH E1-beta, branched chain keto acid dehydrogenase E1, beta polypeptide, branched chain keto acid dehydrogenase E1 subunit beta
External IDsOMIM:248611;MGI:88137;HomoloGene:39;GeneCards:BCKDHB;OMA:BCKDHB - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for BCKDHB
Genomic location for BCKDHB
Band6q14.1Start80,106,647bp[1]
End80,346,270bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for BCKDHB
Genomic location for BCKDHB
Band9|9 E2Start83,807,198bp[2]
End84,006,293bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lobe of liver

  • rectum

  • mucosa of transverse colon

  • Achilles tendon

  • olfactory zone of nasal mucosa

  • ventricular zone

  • popliteal artery

  • tibial arteries

  • body of stomach

  • left ventricle
Top expressed in
  • left lobe of liver

  • brown adipose tissue

  • white adipose tissue

  • epithelium of stomach

  • myocardium of ventricle

  • interventricular septum

  • plantaris muscle

  • subcutaneous adipose tissue

  • cardiac muscles

  • parotid gland
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

594

12040

Ensembl

ENSG00000083123

ENSMUSG00000032263

UniProt

P21953

Q6P3A8

RefSeq (mRNA)

NM_000056
NM_183050
NM_001318975

NM_199195
NM_001305935

RefSeq (protein)

NP_000047
NP_001305904
NP_898871

NP_001292864
NP_954665

Location (UCSC)Chr 6: 80.11 – 80.35 MbChr 9: 83.81 – 84.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is anenzyme that in humans is encoded by theBCKDHBgene.[5]

Function

[edit]

Branched-chain keto acid dehydrogenase is amultienzyme complex associated with theinner membrane of mitochondria, and functions in thecatabolism ofbranched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2), and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated withmaple syrup urine disease (MSUD), type 1B. Alternative splicing at this locus results in transcript variants with different 3'noncoding regions, but encoding the sameisoform.[5]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000083123 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000032263 –Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ab"Entrez Gene: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)".

Further reading

[edit]

External links

[edit]
PDB gallery
  • 1dtw: HUMAN BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE
    1dtw: HUMAN BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE
  • 1ols: ROLES OF HIS291-ALPHA AND HIS146-BETA' IN THE REDUCTIVE ACYLATION REACTION CATALYZED BY HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE
    1ols: ROLES OF HIS291-ALPHA AND HIS146-BETA' IN THE REDUCTIVE ACYLATION REACTION CATALYZED BY HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE
  • 1olu: ROLES OF HIS291-ALPHA AND HIS146-BETA' IN THE REDUCTIVE ACYLATION REACTION CATALYZED BY HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE
    1olu: ROLES OF HIS291-ALPHA AND HIS146-BETA' IN THE REDUCTIVE ACYLATION REACTION CATALYZED BY HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE
  • 1olx: ROLES OF HIS291-ALPHA AND HIS146-BETA' IN THE REDUCTIVE ACYLATION REACTION CATALYZED BY HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE
    1olx: ROLES OF HIS291-ALPHA AND HIS146-BETA' IN THE REDUCTIVE ACYLATION REACTION CATALYZED BY HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE
  • 1u5b: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
    1u5b: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
  • 1v11: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE
    1v11: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE
  • 1v16: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE
    1v16: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE
  • 1v1m: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE
    1v1m: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE
  • 1v1r: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE
    1v1r: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE
  • 1wci: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
    1wci: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
  • 1x7w: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
    1x7w: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
  • 1x7x: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
    1x7x: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
  • 1x7y: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
    1x7y: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
  • 1x7z: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
    1x7z: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
  • 1x80: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
    1x80: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase
  • 2beu: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
    2beu: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
  • 2bev: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
    2bev: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
  • 2bew: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
    2bew: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
  • 2bfb: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
    2bfb: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
  • 2bfc: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
    2bfc: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
  • 2bfd: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
    2bfd: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
  • 2bfe: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
    2bfe: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
  • 2bff: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
    2bff: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH
  • 2j9f: HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE-DECARBOXYLASE E1B
    2j9f: HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE-DECARBOXYLASE E1B
Photosynthesis
Dehydrogenase
Other
Non-specific serine/threonine protein kinases (EC 2.7.11.1)
Pyruvate dehydrogenase kinase (EC 2.7.11.2)
Dephospho-(reductase kinase) kinase (EC 2.7.11.3)
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4)
(isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5)
(tyrosine 3-monooxygenase) kinase (EC 2.7.11.6)
Myosin-heavy-chain kinase (EC 2.7.11.7)
Fas-activated serine/threonine kinase (EC 2.7.11.8)
Goodpasture-antigen-binding protein kinase (EC 2.7.11.9)
  • -
IκB kinase (EC 2.7.11.10)
cAMP-dependent protein kinase (EC 2.7.11.11)
cGMP-dependent protein kinase (EC 2.7.11.12)
Protein kinase C (EC 2.7.11.13)
Rhodopsin kinase (EC 2.7.11.14)
Beta adrenergic receptor kinase (EC 2.7.11.15)
G-protein coupled receptor kinases (EC 2.7.11.16)
Ca2+/calmodulin-dependent (EC 2.7.11.17)
Myosin light-chain kinase (EC 2.7.11.18)
Phosphorylase kinase (EC 2.7.11.19)
Elongation factor 2 kinase (EC 2.7.11.20)
Polo kinase (EC 2.7.11.21)
Serine/threonine-specific protein kinases (EC 2.7.11.21-EC 2.7.11.30)
Polo kinase (EC 2.7.11.21)
Cyclin-dependent kinase (EC 2.7.11.22)
(RNA-polymerase)-subunit kinase (EC 2.7.11.23)
Mitogen-activated protein kinase (EC 2.7.11.24)
MAP3K (EC 2.7.11.25)
Tau-protein kinase (EC 2.7.11.26)
(acetyl-CoA carboxylase) kinase (EC 2.7.11.27)
  • -
Tropomyosin kinase (EC 2.7.11.28)
  • -
Low-density-lipoprotein receptor kinase (EC 2.7.11.29)
  • -
Receptor protein serine/threonine kinase (EC 2.7.11.30)
MAP2K
Aldehyde/oxooxidoreductases (EC 1.2)
1.2.1:NAD orNADP
1.2.2:cytochrome
1.2.3:oxygen
1.2.4:disulfide
1.2.7:iron–sulfur protein
Activity
Regulation
Classification
Kinetics
Types
Portal:


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