Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55500
Gene name Gene Name - the full gene name approved by the HGNC.
Ethanolamine kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ETNK1
Synonyms (NCBI Gene) Gene synonyms aliases
EKI, EKI 1, EKI1, Nbla10396
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004305 Function Ethanolamine kinase activity IDA 11044454
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005524 Function ATP binding IEA
GO:0005829 Component Cytosol TAS
GO:0006646 Process Phosphatidylethanolamine biosynthetic process IDA 11044454
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609858 24649 ENSG00000139163
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 19565504
Unknown
Disease term Disease name Evidence References Source
Hypereosinophilic syndrome Hypereosinophilic syndrome ClinVar
Neuroticism Neuroticism GWAS
Associations from Text Mining
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