CHKB Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | CHKB |
| Official Name | choline kinase beta [Source:HGNC Symbol;Acc:HGNC:1938] |
| Ensembl ID | ENSG00000100288 |
| Bio databases IDs | |
| Aliases | choline kinase beta |
| Synonyms | CHETK, CHKL, choline kinase beta, choline kinase β, CK, CKB, Ck/Ek, CKEKB, Ck/Ek-beta, Ck/Ek-β, EK, EKB, MDCMC |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHKB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Protein Kinases, catalytic domain
- Phosphotransferase enzyme family
- ethanolamine kinase
- choline kinase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- myopia
- megaconial type congenital muscular dystrophy
- muscular dystrophy
- HER2 negative hormone receptor negative breast cancer
- hereditary disorder
- cardiac hypertrophy
- localized cutaneous leishmaniasis
- arrhythmia
- rostrocaudal muscular dystrophy
role in cell
- expression in
- phosphorylation in
- quantity
- activity
- beta-oxidation in
- ploidy
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- centrosome
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHKB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- phosphatidylethanolamine biosynthetic process
- CDP-choline pathway
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- ethanolamine kinase activity
- choline kinase activity