CHKB

Protein identityUniProt · HPA

UniProt accession

Q9Y259

Gene

CHKB

Ensembl

ENSG00000100288

Chromosome

22

Canonical length

395 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

Quaternary structure

Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

395 residues, UniProt reviewed canonical sequence.

>Q9Y259|CHKB
     1  MAAEATAVAG SGAVGGCLAK DGLQQSKCPD TTPKRRRASS LSRDAERRAY QWCREYLGGA
    61  WRRVQPEELR VYPVSGGLSN LLFRCSLPDH LPSVGEEPRE VLLRLYGAIL QGVDSLVLES
   121  VMFAILAERS LGPQLYGVFP EGRLEQYIPS RPLKTQELRE PVLSAAIATK MAQFHGMEMP
   181  FTKEPHWLFG TMERYLKQIQ DLPPTGLPEM NLLEMYSLKD EMGNLRKLLE STPSPVVFCH
   241  NDIQEGNILL LSEPENADSL MLVDFEYSSY NYRGFDIGNH FCEWVYDYTH EEWPFYKARP
   301  TDYPTQEQQL HFIRHYLAEA KKGETLSQEE QRKLEEDLLV EVSRYALASH FFWGLWSILQ
   361  ASMSTIEFGY LDYAQSRFQF YFQQKGQLTS VHSSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHKB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

20 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHKB.

Disease | AllUniProt

Conditions CHKB is implicated in, by any mechanism.

• Muscular dystrophy, congenital, megaconial type (MDCMC) MIM:602541

Disease | GeneticClinVar

43 pathogenic / likely-pathogenic of 442 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Megaconial type congenital muscular dystrophy
• CHKB-related disorder
• Muscular dystrophy
• See cases
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.92

gnomAD pLI

0

gnomAD missense Z

-0.53

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• CDP-choline pathway
• muscle organ development
• phosphatidylethanolamine biosynthetic process

Molecular functions

• ATP binding
• choline kinase activity
• ethanolamine kinase activity

Cellular components

• cytoplasm
• cytosol

Protein domainsUniProt · Pfam · InterPro

• Protein kinase-like domain superfamily
• Choline/ethanolamine kinase

KeywordsUniProt

• Acetylation
• ATP-binding
• Congenital muscular dystrophy
• Kinase
• Lipid biosynthesis
• Lipid metabolism
• Nucleotide-binding
• Phospholipid biosynthesis
• Phospholipid metabolism
• Transferase