• Gene id: 55500

Gene Summary

• Gene Symbol: ETNK1   Gene   UCSC   Ensembl
• Aliases: EKI, EKI 1, EKI1, Nbla10396
• Gene name: ethanolamine kinase 1
• Alternate names: ethanolamine kinase 1, putative protein product of Nbla10396,
• Gene location: 12p12.1 (22625144: 22690664)     Exons: 13     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 609858

Protein Summary

• Protein general information: Q9HBU6  
  • Name: Ethanolamine kinase 1 (EKI 1) (EC 2.7.1.82)
  • Length: 452  
  • Mass: 50968
  • Tissue specificity: Expressed in kidney, liver, placenta, heart, leukocyte, ovary and testis. {ECO
• Sequence:

  MLCGRPRSSSDNRNFLRERAGLSSAAVQTRIGNSAASRRSPAARPPVPAPPALPRGRPGTEGSTSLSAPAVLVVA
  VAVVVVVVSAVAWAMANYIHVPPGSPEVPKLNVTVQDQEEHRCREGALSLLQHLRPHWDPQEVTLQLFTDGITNK
  LIGCYVGNTMEDVVLVRIYGNKTELLVDRDEEVKSFRVLQAHGCAPQLYCTFNNGLCYEFIQGEALDPKHVCNPA
  IFRLIARQLAKIHAIHAHNGWIPKSNLWLKMGKYFSLIPTGFADEDINKRFLSDIPSSQILQEEMTWMKEILSNL
  GSPVVLCHNDLLCKNIIYNEKQGDVQFIDYEYSGYNYLAYDIGNHFNEFAGVSDVDYSLYPDRELQSQWLRAYLE
  AYKEFKGFGTEVTEKEVEILFIQVNQFALASHFFWGLWALIQAKYSTIEFDFLGYAIVRFNQYFKMKPEVTALKV
  PE

• Structural information:
  • Interpro: IPR011009  
  • STRING: ENSP00000266517
• Other Databases: GeneCards:  ETNK1  Malacards:  ETNK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0004305	ethanolamine kinase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006646	phosphatidylethanolamine biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006646	phosphatidylethanolamine biosynthetic process	IEA	biological process
GO:0006646	phosphatidylethanolamine biosynthetic process	IDA	biological process
GO:0004305	ethanolamine kinase activity	IDA	molecular function
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Atypical chronic myeloid leukemia	KEGG:H02412
Atypical chronic myeloid leukemia	KEGG:H02412
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R