Property Summary

NCBI Gene PubMed Count 18
Grant Count 4
R01 Count 1
Funding $811,115
PubMed Score 14.97
PubTator Score 16.74

Knowledge Summary

Patent (2,860)

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis 1.600 0.000
diabetes mellitus -1.100 0.001
ovarian cancer 1.600 0.000

Synonym

Accession O14874 A8MY43 Q6FGL4 Q96G95 Q96IN5
Symbols BDK
BCKDKD

Gene

PANTHER Protein Class (3)

  TechDev Info (1)

Gary Johnson Kinome profile via MIB/MS Technology

 Collection (1)

 GWAS Trait (1)

Gene RIF (6)

PMID Text
24449431 Results demonstrate that BCKDK mutations can result in neurobehavioral deficits in humans.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
15302860 This publication is about the mouse gene but contains the 5' sequence of the human gene, including upstream open reading frame information.
11839747 employment of multidimensional heteronuclear NMR techniques to determine the structure and dynamics of the LBD of the human branched-chain alpha-keto acid dehydrogenase complex (hbLBD)

AA Sequence

MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRL      1 - 70
TPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFP     71 - 140
PIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLAL    141 - 210
HEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNA    211 - 280
MRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFG    281 - 350
HLDMHSGAQSGPMHGFGFGLPTSRAYAEYLGGSLQLQSLQGIGTDVYLRLRHIDGREESFRI            351 - 412
//

Text Mined References (30)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25064009 2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
24449431 2014 Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22956686 2012 Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
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