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Aliases for CHKB Gene

Aliases for CHKB Gene

  • Choline Kinase Beta 2 3 4
  • CKEKB 3 4 6
  • CHKL 3 4 6
  • EKB 3 4 6
  • Choline Kinase-Like Protein 3 4
  • Ethanolamine Kinase Beta 3 4
  • MDCMC 3 6
  • CHETK 3 4
  • CKB 3 4
  • EK 3 4
  • CK 3 4
  • Choline/Ethanolamine Kinase Beta 4
  • Choline/Ethanolamine Kinase 3
  • Choline Kinase-Like 2
  • Ethanolamine Kinase 4
  • EC 2.7.1.32 4
  • EC 2.7.1.82 4

External Ids for CHKB Gene

Previous HGNC Symbols for CHKB Gene

  • CHKL

Previous GeneCards Identifiers for CHKB Gene

  • GC22M049149
  • GC22M049298
  • GC22M049307
  • GC22M049364
  • GC22M051007
  • GC22M033908
  • GC22M051017

Summaries for CHKB Gene

Entrez Gene Summary for CHKB Gene

  • Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]

GeneCards Summary for CHKB Gene

CHKB (Choline Kinase Beta) is a Protein Coding gene. Diseases associated with CHKB include muscular dystrophy, congenital, megaconial type and chkb-related muscle diseases. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include ethanolamine kinase activity and choline kinase activity. An important paralog of this gene is ETNK1.

UniProtKB/Swiss-Prot for CHKB Gene

  • Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis.

Gene Wiki entry for CHKB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHKB Gene

Genomics for CHKB Gene

Regulatory Elements for CHKB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CHKB Gene

Start:
50,578,949 bp from pter
End:
50,601,455 bp from pter
Size:
22,507 bases
Orientation:
Minus strand

Genomic View for CHKB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHKB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHKB Gene

Proteins for CHKB Gene

  • Protein details for CHKB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y259-CHKB_HUMAN
    Recommended name:
    Choline/ethanolamine kinase
    Protein Accession:
    Q9Y259
    Secondary Accessions:
    • A0PJM6
    • Q13388

    Protein attributes for CHKB Gene

    Size:
    395 amino acids
    Molecular mass:
    45271 Da
    Quaternary structure:
    • Homodimer, and heterodimer with CHKA.
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the CPT1B protein from a non-overlapping reading frame
    SequenceCaution:
    • Sequence=AAB03342.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHKB Gene

    Alternative splice isoforms for CHKB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHKB Gene

Proteomics data for CHKB Gene at MOPED

Post-translational modifications for CHKB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHKB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CHKB Gene

Domains for CHKB Gene

Protein Domains for CHKB Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CHKB Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y259

UniProtKB/Swiss-Prot:

CHKB_HUMAN :
  • Q9Y259
Family:
  • Belongs to the choline/ethanolamine kinase family.
genes like me logo Genes that share domains with CHKB: view

No data available for Gene Families for CHKB Gene

Function for CHKB Gene

Molecular function for CHKB Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.57 mM for choline {ECO:0000269 PubMed:19915674}; KM=2.9 mM for ethanolamine {ECO:0000269 PubMed:19915674};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + choline = ADP + phosphocholine.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + ethanolamine = ADP + O-phosphoethanolamine.
UniProtKB/Swiss-Prot Function:
Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis.

Enzyme Numbers (IUBMB) for CHKB Gene

Gene Ontology (GO) - Molecular Function for CHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004103 choline kinase activity IDA 19915674
GO:0004305 ethanolamine kinase activity IDA 19915674
GO:0005524 ATP binding IEA --
GO:0016772 transferase activity, transferring phosphorus-containing groups --
genes like me logo Genes that share ontologies with CHKB: view
genes like me logo Genes that share phenotypes with CHKB: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHKB

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for CHKB Gene

Localization for CHKB Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHKB Gene COMPARTMENTS Subcellular localization image for CHKB gene
Compartment Confidence
mitochondrion 5
peroxisome 3
cytosol 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CHKB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CHKB Gene

Pathways for CHKB Gene

genes like me logo Genes that share pathways with CHKB: view

UniProtKB/Swiss-Prot Q9Y259-CHKB_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3

Gene Ontology (GO) - Biological Process for CHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006657 CDP-choline pathway IEA --
GO:0007517 muscle organ development IEA --
genes like me logo Genes that share ontologies with CHKB: view

Compounds for CHKB Gene

(6) HMDB Compounds for CHKB Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Choline
  • (2-Hydroxyethyl)trimethyl ammonium
62-49-7
Ethanolamine
  • 1-Amino-2-hydroxyethane
141-43-5
O-Phosphoethanolamine
  • Phosphoryethanolamine
1071-23-4

(1) Drugbank Compounds for CHKB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Choline
  • Bilineurine
62-49-7 enzyme substrate

(146) Novoseek inferred chemical compound relationships for CHKB Gene

Compound -log(P) Hits PubMed IDs
creatinine 95.3 161
cyclocreatine 75.9 9
lactate 75.5 114
aspartate 71.7 104
alpha-hydroxybutyrate 71.2 9
genes like me logo Genes that share compounds with CHKB: view

Transcripts for CHKB Gene

Unigene Clusters for CHKB Gene

Choline kinase beta:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHKB

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHKB Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ·
SP1: - - - - - - -
SP2:
SP3:
SP4:
SP5: - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - -
SP9: - - - - - -
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SP12: - - - - -
SP13:
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SP16: -
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SP19:
SP20:
SP21:
SP22: - -
SP23: -
SP24:
SP25:
SP26:
SP27:
SP28: -
SP29:

ExUns: 13c ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d · 17e ^ 18a · 18b · 18c · 18d ^ 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - - - -
SP11:
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SP13: - - - - - - - - -
SP14: - - - - - -
SP15:
SP16: - - - -
SP17: - - - -
SP18: - - - -
SP19: - - - - -
SP20: - - - -
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:

ExUns: 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ 34a · 34b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15: - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27: -
SP28:
SP29:

Relevant External Links for CHKB Gene

GeneLoc Exon Structure for
CHKB
ECgene alternative splicing isoforms for
CHKB

Expression for CHKB Gene

mRNA expression in normal human tissues for CHKB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for CHKB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CHKB Gene

SOURCE GeneReport for Unigene cluster for CHKB Gene Hs.654827

genes like me logo Genes that share expressions with CHKB: view

Expression partners for CHKB Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CHKB Gene

Orthologs for CHKB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHKB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHKB 35
  • 88.95 (n)
  • 88.35 (a)
CHKB 36
  • 88 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CHKB 35
  • 89.28 (n)
  • 90.38 (a)
-- 36
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Chkb 35
  • 85.11 (n)
  • 86.04 (a)
Chkb 16
Chkb 36
  • 86 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CHKB 35
  • 99.58 (n)
  • 99.75 (a)
CHKB 36
  • 100 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Chkb 35
  • 85.58 (n)
  • 85.24 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 65 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 65 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia chkb 35
  • 60.59 (n)
  • 65.24 (a)
zebrafish
(Danio rerio)
Actinopterygii chkb 35
  • 62.95 (n)
  • 63.14 (a)
chkb 36
  • 49 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007957 35
  • 53.09 (n)
  • 47.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2201 35
  • 49.46 (n)
  • 39.73 (a)
CG2201 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cka-1 35
  • 49.95 (n)
  • 43.32 (a)
cka-1 36
  • 30 (a)
ManyToMany
cka-2 36
  • 37 (a)
ManyToMany
ckb-1 36
  • 25 (a)
ManyToMany
ckb-2 36
  • 24 (a)
ManyToMany
ckb-3 36
  • 24 (a)
ManyToMany
ckb-4 36
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CKI1 36
  • 16 (a)
ManyToMany
EKI1 36
  • 16 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G74320 35
  • 46.89 (n)
  • 36.34 (a)
rice
(Oryza sativa)
Liliopsida Os05g0535400 35
  • 50 (n)
  • 34.62 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for CHKB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHKB Gene

ENSEMBL:
Gene Tree for CHKB (if available)
TreeFam:
Gene Tree for CHKB (if available)

Paralogs for CHKB Gene

Paralogs for CHKB Gene

Selected SIMAP similar genes for CHKB Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CHKB: view

Variants for CHKB Gene

Structural Variations from Database of Genomic Variants (DGV) for CHKB Gene

Variant ID Type Subtype PubMed ID
nsv915495 CNV Loss 21882294
nsv914525 CNV Loss 21882294
dgv5062n71 CNV Loss 21882294
nsv471224 CNV Loss 18288195
nsv914542 CNV Loss 21882294
nsv914543 CNV Loss 21882294
nsv834239 CNV Loss 17160897
dgv1422e1 CNV Complex 17122850
dgv5066n71 CNV Loss 21882294
nsv829340 CNV Gain 20364138
dgv5067n71 CNV Loss 21882294
nsv914559 CNV Loss 21882294
nsv914561 CNV Loss 21882294
dgv5068n71 CNV Loss 21882294

Relevant External Links for CHKB Gene

HapMap Linkage Disequilibrium report
CHKB
Human Gene Mutation Database (HGMD)
CHKB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for CHKB Gene

Disorders for CHKB Gene

(1) OMIM Diseases for CHKB Gene (612395)

(1) University of Copenhagen DISEASES for CHKB Gene

(97) Novoseek inferred disease relationships for CHKB Gene

Disease -log(P) Hits PubMed IDs
rhabdomyolysis 84 61
acute myocardial infarction 78.9 89
creatine phosphokinase, elevated serum 78.6 4
myopathy 76.3 54
polymyositis 71.8 15

Relevant External Links for CHKB

Genetic Association Database (GAD)
CHKB
Human Genome Epidemiology (HuGE) Navigator
CHKB
genes like me logo Genes that share disorders with CHKB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHKB Gene

Publications for CHKB Gene

  1. Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I. (PMID: 10918069) Yamazaki N. … Terada H. (J. Biol. Chem. 2000) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Structure and function of choline kinase isoforms in mammalian cells. (PMID: 15003397) Aoyama C. … Ishidate K. (Prog. Lipid Res. 2004) 2 3
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for CHKB Gene

  • Addgene plasmids for CHKB

Sources for CHKB Gene

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