Property Summary

NCBI Gene PubMed Count 31
Grant Count 130
R01 Count 90
Funding $12,197,937.35
PubMed Score 53.65
PubTator Score 30.79

Knowledge Summary

Patent (34,763)

Expression

Synonym

Accession Q9Y259 A0PJM6 Q13388
Symbols CK
EK
CKB
EKB
CHKL
CHETK
CKEKB
MDCMC

Gene

PANTHER Protein Class (2)

PDB

2IG7   3FEG   3LQ3  

  TechDev Info (1)

Gary Johnson Kinome profile via MIB/MS Technology

Gene RIF (18)

PMID Text
26067811 A new form of congenital muscular dystrophy with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta gene defects has been characterized.
25740612 A novel silent variant in the choline kinase beta causing muscular dystrophy.
24571861 study identified a novel haplotype consisting of the indel variation, which had not been detected in previous studies in Japanese and Korean populations, and observed four single-nucleotide polymorphisms in CHKB/CPT1B
24291895 Its mutations cause congenital muscular dystrophy.[Review]
23945283 CHKB encodes choline kinase beta, an enzyme that catalyzes the first de-novo biosynthetic step of phosphatidylcholine, the most abundant phospholipid in the eukaryotic membrane [review]
23692895 CHKB activity was reduced in all three patients, significant reduction in choline:N-acetyl aspartate and choline:creatine ratios in keeping with a general decrease in the amount of choline and phosphocholine-based substrate
22177342 The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B/CHKB (rs5770917) in the Chinese population.
21665002 homozygous or compound heterozygous mutations in the gene encoding choline kinase beta were identified in individulas with congenital muscular dystrophy.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20602615 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAAEATAVAGSGAVGGCLAKDGLQQSKCPDTTPKRRRASSLSRDAERRAYQWCREYLGGAWRRVQPEELR      1 - 70
VYPVSGGLSNLLFRCSLPDHLPSVGEEPREVLLRLYGAILQGVDSLVLESVMFAILAERSLGPQLYGVFP     71 - 140
EGRLEQYIPSRPLKTQELREPVLSAAIATKMAQFHGMEMPFTKEPHWLFGTMERYLKQIQDLPPTGLPEM    141 - 210
NLLEMYSLKDEMGNLRKLLESTPSPVVFCHNDIQEGNILLLSEPENADSLMLVDFEYSSYNYRGFDIGNH    211 - 280
FCEWVYDYTHEEWPFYKARPTDYPTQEQQLHFIRHYLAEAKKGETLSQEEQRKLEEDLLVEVSRYALASH    281 - 350
FFWGLWSILQASMSTIEFGYLDYAQSRFQFYFQQKGQLTSVHSSS                             351 - 395
//

Text Mined References (32)

PMID Year Title
26067811 2015 Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.
25740612 2015 New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.
24571861 2014 Identification of the variations in the CPT1B and CHKB genes along with the HLA-DQB1*06:02 allele in Turkish narcolepsy patients and healthy persons.
24291895 2013 [New congenital muscular dystrophy due to CHKB mutations].
23945283 2013 Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase ?.
23692895 2013 Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22177342 2012 TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy.
21665002 2011 A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
20716336 2010 Distinct choline metabolic profiles are associated with differences in gene expression for basal-like and luminal-like breast cancer xenograft models.
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