Gene Gene information from NCBI Gene database.
Entrez ID 55500
Gene name Ethanolamine kinase 1
Gene symbol ETNK1
Synonyms (NCBI Gene)
EKIEKI 1EKI1Nbla10396
Chromosome 12
Chromosome location 12p12.1
Summary This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative spl
miRNA miRNA information provided by mirtarbase database.
1429
miRTarBase ID miRNA Experiments Reference
MIRT023834 hsa-miR-1-3p Microarray 18668037
MIRT030884 hsa-miR-21-5p Microarray 18591254
MIRT046537 hsa-miR-15b-5p CLASH 23622248
MIRT043971 hsa-miR-378a-5p CLASH 23622248
MIRT558064 hsa-miR-218-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004305 Function Ethanolamine kinase activity IBA
GO:0004305 Function Ethanolamine kinase activity IDA 11044454
GO:0004305 Function Ethanolamine kinase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609858 24649 ENSG00000139163
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HBU6
Protein name Ethanolamine kinase 1 (EKI 1) (EC 2.7.1.82)
Protein function Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01633 Choline_kinase 160 365 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney, liver, placenta, heart, leukocyte, ovary and testis. {ECO:0000269|PubMed:11044454}.
Sequence
MLCGRPRSSSDNRNFLRERAGLSSAAVQTRIGNSAASRRSPAARPPVPAPPALPRGRPGT
EGSTSLSAPAVLVVAVAVVVVVVSAVAWAMANYIHVPPGSPEVPKLNVTVQDQEEHRCRE
GALSLLQHLRPHWDPQEVTLQLFTDGITNKLIGCYVGNTMEDVVLVRIYGNKTELLVDRD
EEVKSFRVLQAHGCAPQLYCTFNNGLCYEFIQGEALDPKHVCNPAIFRLIARQLAKIHAI
HAHNGWIPKSNLWLKMGKYFSLIPTGFADEDINKRFLSDIPSSQILQEEMTWMKEILSNL
GSPVVLCHNDLLCKNIIYNEKQGDVQFIDYEYSGYNYLAYDIGNHFNEFAGVSDVDYSLY
PDREL
QSQWLRAYLEAYKEFKGFGTEVTEKEVEILFIQVNQFALASHFFWGLWALIQAKY
STIEFDFLGYAIVRFNQYFKMKPEVTALKVPE
Sequence length 452
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerophospholipid metabolism
Metabolic pathways
  Synthesis of PE
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Teratoma Uncertain significance rs764046781 RCV003221376
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 37407249
Carcinoma Squamous Cell Inhibit 38157930
Cell Transformation Viral Associate 36583229
Connective Tissue Diseases Associate 22208759
Eosinophilia Associate 25615281
Genetic Diseases Inborn Associate 22208759
Heredodegenerative Disorders Nervous System Associate 22208759
Leukemia Myelogenous Chronic BCR ABL Positive Associate 34784413, 36583229
Leukemia Myeloid Acute Associate 36583229
Leukemia Myeloid Chronic Atypical BCR ABL Negative Associate 25343957, 28314085, 36601682, 38066919