Gene Gene information from NCBI Gene database.
Entrez ID 1119
Gene name Choline kinase alpha
Gene symbol CHKA
Synonyms (NCBI Gene)
CHKCKCKIEKNEDMIMS
Chromosome 11
Chromosome location 11q13.2
Summary The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation
miRNA miRNA information provided by mirtarbase database.
280
miRTarBase ID miRNA Experiments Reference
MIRT890114 hsa-miR-1272 CLIP-seq
MIRT890115 hsa-miR-1299 CLIP-seq
MIRT890116 hsa-miR-136 CLIP-seq
MIRT890117 hsa-miR-150 CLIP-seq
MIRT890118 hsa-miR-188-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004103 Function Choline kinase activity IBA
GO:0004103 Function Choline kinase activity IDA 19915674, 23416529, 34077757
GO:0004103 Function Choline kinase activity IEA
GO:0004103 Function Choline kinase activity TAS 10363580
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
118491 1937 ENSG00000110721
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35790
Protein name Choline kinase alpha (CK) (EC 2.7.1.32) (CHETK-alpha) (Ethanolamine kinase) (EK) (EC 2.7.1.82)
Protein function Plays a key role in phospholipid biosynthesis by catalyzing the phosphorylation of free choline to phosphocholine, the first step in phosphatidylcholine biosynthesis (PubMed:17007874, PubMed:19915674, PubMed:23416529, PubMed:34077757). Also phos
PDB 2CKO , 2CKP , 2CKQ , 2I7Q , 3F2R , 3G15 , 3ZM9 , 4BR3 , 4CG8 , 4CG9 , 4CGA , 4DA5 , 5AFV , 5EQE , 5EQP , 5EQY , 5FTG , 5FUT , 5W6O , 7A04 , 7A06 , 7NB1 , 7NB2 , 7NB3 , 8BI5 , 8BI6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01633 Choline_kinase 139 374 Family
Sequence
MKTKFCTGGEAEPSPLGLLLSCGSGSAAPAPGVGQQRDAASDLESKQLGGQQPPLALPPP
PPLPLPLPLPQPPPPQPPADEQPEPRTRRRAYLWCKEFLPGAWRGLREDEFHISVIRGGL
SNMLFQCSLPDTTATLGDEPRKVLLRLYGAILQMRSCNKEGSEQAQKENEFQGAEAMVLE
SVMFAILAERSLGPKLYGIFPQGRLEQFIPSRRLDTEELSLPDISAEIAEKMATFHGMKM
PFNKEPKWLFGTMEKYLKEVLRIKFTEESRIKKLHKLLSYNLPLELENLRSLLESTPSPV
VFCHNDCQEGNILLLEGRENSEKQKLMLIDFEYSSYNYRGFDIGNHFCEWMYDYSYEKYP
FFRANIRKYPTKKQ
QLHFISSYLPAFQNDFENLSTEEKSIIKEEMLLEVNRFALASHFLW
GLWSIVQAKISSIEFGYMDYAQARFDAYFHQKRKLGV
Sequence length 457
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerophospholipid metabolism
Metabolic pathways
Choline metabolism in cancer
  Synthesis of PC
Synthesis of PE
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly Likely pathogenic rs765529707, rs763056271, rs2153034844, rs2134518071 RCV001785382
RCV001785383
RCV001785384
RCV001785385
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures Likely pathogenic rs765529707, rs763056271, rs2153034844, rs2134518071 RCV002280827
RCV002280828
RCV002280829
RCV002280830
Seizure Likely pathogenic rs765529707, rs763056271, rs2153034844, rs2134518071 RCV001785382
RCV001785383
RCV001785384
RCV001785385
Severe intellectual disability Likely pathogenic rs765529707, rs763056271, rs2153034844, rs2134518071 RCV001785382
RCV001785383
RCV001785384
RCV001785385
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Body Dysmorphic Disorders Associate 35730515
Brain Neoplasms Associate 37011206
Breast Neoplasms Associate 20623626, 21822308, 23917378, 24556997, 25028471, 26496360, 28644842, 37848481
Carcinogenesis Associate 21822308, 26807725
Carcinoma Hepatocellular Associate 23071593, 25503443, 25672227
Carcinoma Non Small Cell Lung Associate 24500664
Carcinoma Ovarian Epithelial Associate 24281000, 33390181
Carcinoma Squamous Cell Associate 11710944
Colorectal Neoplasms Associate 27556502
Conversion Disorder Associate 35730515