Human Gene ETNK1 (ENST00000335148.8) Description and Page Index
  Description: Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 2, mRNA. (from RefSeq NM_001039481)
RefSeq Summary (NM_001039481): 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 splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000335148.8
Gencode Gene: ENSG00000139163.16
Transcript (Including UTRs)
   Position: hg38 chr12:22,625,141-22,644,587 Size: 19,447 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr12:22,625,431-22,644,304 Size: 18,874 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:22,625,141-22,644,587)mRNA (may differ from genome)Protein (169 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: EKI1_HUMAN
DESCRIPTION: RecName: Full=Ethanolamine kinase 1; Short=EKI 1; EC=2.7.1.82;
FUNCTION: Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis.
CATALYTIC ACTIVITY: ATP + ethanolamine = ADP + O- phosphoethanolamine.
PATHWAY: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Expressed in kidney, liver, placenta, heart, leukocyte, ovary and testis.
SIMILARITY: Belongs to the choline/ethanolamine kinase family.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.32 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 388.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -123.80290-0.427 Picture PostScript Text
3' UTR -42.00283-0.148 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026712 - Cho/Etha_kinase
IPR011009 - Kinase-like_dom

ModBase Predicted Comparative 3D Structure on Q9HBU6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004305 ethanolamine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006646 phosphatidylethanolamine biosynthetic process
GO:0008654 phospholipid biosynthetic process
GO:0016310 phosphorylation

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AF207600 - Homo sapiens ethanolamine kinase (EKI1) mRNA, complete cds.
BC066907 - Homo sapiens ethanolamine kinase 1, mRNA (cDNA clone MGC:87084 IMAGE:5260109), complete cds.
JF432382 - Synthetic construct Homo sapiens clone IMAGE:100073582 ethanolamine kinase 1 (ETNK1) gene, encodes complete protein.
KJ894197 - Synthetic construct Homo sapiens clone ccsbBroadEn_03591 ETNK1 gene, encodes complete protein.
KJ905497 - Synthetic construct Homo sapiens clone ccsbBroadEn_15099 ETNK1 gene, encodes complete protein.
AL137750 - Homo sapiens mRNA; cDNA DKFZp434E1212 (from clone DKFZp434E1212).
AK074425 - Homo sapiens cDNA FLJ23845 fis, clone KAT08096, highly similar to Homo sapiens ethanolamine kinase (EKI1) mRNA.
CU688188 - Synthetic construct Homo sapiens gateway clone IMAGE:100021204 5' read ETNK1 mRNA.
BC006111 - Homo sapiens ethanolamine kinase 1, mRNA (cDNA clone IMAGE:3163490), partial cds.
KJ906228 - Synthetic construct Homo sapiens clone ccsbBroadEn_15898 ETNK1 gene, encodes complete protein.
BT007084 - Homo sapiens ethanolamine kinase mRNA, complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00564 - Glycerophospholipid metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q9HBU6 (Reactome details) participates in the following event(s):

R-HSA-1483222 ETA is phosphorylated to PETA by CHK/ETNK
R-HSA-1483213 Synthesis of PE
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: EKI1, EKI1_HUMAN, NM_001039481, Q9HBU6, uc001rfs.1, uc001rfs.2, uc001rfs.3, uc001rfs.4, uc001rfs.5
UCSC ID: uc001rfs.5
RefSeq Accession: NM_001039481
Protein: Q9HBU6 (aka EKI1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.