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FLASH GENE

Symbol

CHKB

contributors: mct - updated : 20-10-2012

HGNC name	choline kinase beta
HGNC id	1938

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MDC1E muscular dystrophy, congenital, 1E
Location	22q13.33      Physical location : 51.017.386 - 51.021.428
Synonym name	choline kinase-like
Synonym symbol(s)	CHKL, CHETK, EKB, CKEKB, EK, MDCMC, ChoKbeta
EC.number	2.7.1.32, 2.7.1.82

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	tightly linked to and upstream of CPT1B
STRUCTURE	4.04 kb     11 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

300 bp upstream CPT1, may be transcripted in an unique message

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005198 11 splicing 1648 NP_005189 45 395 - 2004 15003397 variant 2 8 - 4914 13.4 127 - 2004 15003397 containing alternate segments in the coding region, causing a frameshift compared to variant 1 bicistronic transcript with the coding region of the carnitine palmitoyltransferase gene in the 3'end

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive mouth tongue     highly   stomach       moderately Endocrine neuroendocrine pituitary     moderately   parathyroid       predominantly Hearing/Equilibrium ear       moderately Lymphoid/Immune spleen       moderately Nervous nerve       moderately Reproductive female system placenta     moderately   male system prostate     moderately   male system testis     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     moderately Muscular       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to rattus Chkb (85.6pc)
	ortholog to murine Chkb (86pc)
	homolog to C. elegans cka-1 (43.3pc)

Homologene

FAMILY	choline/ethanolamine kinase family
	ChoK family of proteins

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	catalyzing the phosphorylation of choline to phosphocholine
	catalyzing the phosphorylation of ethanolamine to phosphoethanolamine
	involved in the metabolism of choline, a precursor of the rapid eye movement - and wake-regulating neurotransmitter acetylcholine
	display an ethanolamine kinase role

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

being the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MDC1E

Susceptibility

to narcolepsy

Variant & Polymorphism SNP	associated with narcolepsy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	spontaneously occurring genomic deletion in murine Chkb results in neonatal bone deformity and hindlimb muscular dystrophy
	loss-of-function mutation in the murine ortholog, Chkb, is reported to cause rostrocaudal muscular dystrophy (rmd), with abnormal mitochondrial morphology in rmd skeletal muscles that reflects altered phosphatidylcholine content in mitochondrial membranes, and selective autophagic elimination of mitochondria