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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
choline kinase alpha
Summary
- Gene Symbol
-
- CHKA
- Aliases
-
- CKI
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Acetylation
- Alternative splicing
- Cytoplasm
- Disease variant
- Epilepsy
- Intellectual disability
- Lipid droplet
- Phospholipid biosynthesis
- Phosphoprotein
- Reference proteome
- Tyrosine-protein kinase
- Proteins
| UniProt | Protein Name |
|---|---|
| P35790 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| lipid metabolic process |
|
|
| lipid transport |
|
|
| phosphatidylethanolamine biosynthetic process | ||
| CDP-choline pathway | ||
| phosphatidylcholine biosynthetic process |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| ethanolamine kinase activity | ||
| protein homodimerization activity | ||
| choline kinase activity | ||
| protein tyrosine kinase activity | ||
| ATP binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
| DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
| DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
| DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
| DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
| DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000639 | Nystagmus |
| HP:0000718 | Aggressive behavior |
| HP:0000729 | Autistic behavior |
| HP:0000752 | Hyperactivity |
| HP:0000787 | Nephrolithiasis |
| HP:0001266 | Choreoathetosis |
| HP:0001276 | Hypertonia |
| Disease ID | Disease Name |
|---|---|
| OMIM:620023 |
|
PubChem Disease
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001043
- Gene Name
- choline kinase alpha
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 175565 | WB:WBGene00000512 | ||
| 177807 | WB:WBGene00000509 | ||
| 180703 | WB:WBGene00000510 | ||
| 181904 | WB:WBGene00000511 | ||
| 181905 | WB:WBGene00000513 | ||
| 184864 | WB:WBGene00000514 | ||
| 35417 | FB:FBgn0032955 | ||
| 100186785 | CIOIN01178 | ||
| 102356713 | LATCH19054 | ||
| 558499 | ZFIN:ZDB-GENE-050208-149 | DANRE13548 |
