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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 37407249 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 38157930 Inhibit
★☆☆☆☆
Found in Text Mining only
Connective Tissue Diseases Connective tissue disease Pubtator 22208759 Associate
★☆☆☆☆
Found in Text Mining only
Eosinophilia Eosinophilia BEFREE 25615281
★☆☆☆☆
Found in Text Mining only
Eosinophilia Eosinophilia Pubtator 25615281 Associate
★☆☆☆☆
Found in Text Mining only
Hypereosinophilia Hypereosinophilia BEFREE 25615281
★☆☆☆☆
Found in Text Mining only
Hypereosinophilic syndrome Hypereosinophilic Syndrome CGI_DG
★☆☆☆☆
Found in Text Mining only
Impaired cognition Impaired Cognition BEFREE 28222521
★☆☆☆☆
Found in Text Mining only
Juvenile arthritis Arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile Myelomonocytic Leukemia Myelomonocytic Leukemia BEFREE 25615281
★☆☆☆☆
Found in Text Mining only