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] See more...

Aliases for ETNK1 Gene

Aliases for ETNK1 Gene

  • Ethanolamine Kinase 1 2 3 4 5
  • EKI1 2 3 4
  • EKI 1 3 4
  • EKI 2 3
  • Putative Protein Product Of Nbla10396 3
  • EC 2.7.1.82 4
  • Nbla10396 3
  • ETNK1 5

External Ids for ETNK1 Gene

Previous GeneCards Identifiers for ETNK1 Gene

  • GC12P022670
  • GC12P022778
  • GC12P022544

Summaries for ETNK1 Gene

Entrez Gene Summary for ETNK1 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 splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for ETNK1 Gene

ETNK1 (Ethanolamine Kinase 1) is a Protein Coding gene. Diseases associated with ETNK1 include Atypical Chronic Myeloid Leukemia and Systemic Mastocytosis. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and ethanolamine kinase activity. An important paralog of this gene is ETNK2.

UniProtKB/Swiss-Prot Summary for ETNK1 Gene

  • Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis.

Additional gene information for ETNK1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETNK1 Gene

Genomics for ETNK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ETNK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J022623 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.6 1584 5.9 SP1 CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 IKZF1 NFKBIZ ZNF692 ENSG00000257023 ETNK1 LOC105369691 C2CD5 lnc-CMAS-4
GH12J023564 Enhancer 0.9 UCNEbase Ensembl 10.8 +939.6 939613 0.6 GTF2E2 POLR2A ZNF843 FEZF1 BCL11B PRDM6 TRIM28 MEIS2 SMARCA4 ZNF19 ETNK1 piR-33432-106 ENSG00000256473 SOX5 lnc-SOX5-5
GH12J022254 Enhancer 0.7 Ensembl ENCODE CraniofacialAtlas 5.4 -369.5 -369511 3.1 RFX1 YY1 MAFK RNU1-149P ETNK1 lnc-ST8SIA1-2 RF00017-1109 ST8SIA1 CMAS
GH12J022234 Enhancer 0.3 Ensembl 5.6 -390.4 -390397 0.6 SPI1 MAFK piR-57460-119 RNU1-149P ETNK1 lnc-ST8SIA1-2 CMAS ST8SIA1
GH12J022245 Enhancer 0.3 Ensembl 5.7 -378.8 -378774 1.4 CEBPB ETNK1 ST8SIA1 lnc-ST8SIA1-2 piR-57460-119 CMAS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETNK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETNK1

Top Transcription factor binding sites by QIAGEN in the ETNK1 gene promoter:
  • AP-1
  • E47
  • GATA-6
  • HTF
  • Lhx3a
  • LHX3b
  • Pax-4a
  • Sp1
  • Spz1

Genomic Locations for ETNK1 Gene

Genomic Locations for ETNK1 Gene
chr12:22,625,075-22,690,665
(GRCh38/hg38)
Size:
65,591 bases
Orientation:
Plus strand
chr12:22,778,009-22,843,608
(GRCh37/hg19)
Size:
65,600 bases
Orientation:
Plus strand

Genomic View for ETNK1 Gene

Genes around ETNK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETNK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETNK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETNK1 Gene

Proteins for ETNK1 Gene

  • Protein details for ETNK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBU6-EKI1_HUMAN
    Recommended name:
    Ethanolamine kinase 1
    Protein Accession:
    Q9HBU6
    Secondary Accessions:
    • G5E969

    Protein attributes for ETNK1 Gene

    Size:
    452 amino acids
    Molecular mass:
    50968 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ETNK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETNK1 Gene

Post-translational modifications for ETNK1 Gene

  • Ubiquitination at Lys172 and Lys184
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ETNK1 Gene

Domains & Families for ETNK1 Gene

Gene Families for ETNK1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ETNK1 Gene

InterPro:
Blocks:
  • Choline/ethanolamine kinase
ProtoNet:

Suggested Antigen Peptide Sequences for ETNK1 Gene

GenScript: Design optimal peptide antigens:
  • Ethanolamine kinase 1 (EKI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HBU6

UniProtKB/Swiss-Prot:

EKI1_HUMAN :
  • Belongs to the choline/ethanolamine kinase family.
Family:
  • Belongs to the choline/ethanolamine kinase family.
genes like me logo Genes that share domains with ETNK1: view

Function for ETNK1 Gene

Molecular function for ETNK1 Gene

UniProtKB/Swiss-Prot Function:
Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + ethanolamine = ADP + H(+) + phosphoethanolamine; Xref=Rhea:RHEA:13069, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57603, ChEBI:CHEBI:58190, ChEBI:CHEBI:456216; EC=2.7.1.82; Evidence={ECO:0000269|PubMed:11044454};.

Enzyme Numbers (IUBMB) for ETNK1 Gene

Phenotypes From GWAS Catalog for ETNK1 Gene

Gene Ontology (GO) - Molecular Function for ETNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004305 ethanolamine kinase activity IEA,IDA 11044454
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with ETNK1: view
genes like me logo Genes that share phenotypes with ETNK1: view

Animal Models for ETNK1 Gene

MGI Knock Outs for ETNK1:
  • Etnk1 Etnk1<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for ETNK1 Gene

miRTarBase miRNAs that target ETNK1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETNK1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ETNK1 Gene

Localization for ETNK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETNK1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETNK1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ETNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with ETNK1: view

Pathways & Interactions for ETNK1 Gene

genes like me logo Genes that share pathways with ETNK1: view

Pathways by source for ETNK1 Gene

UniProtKB/Swiss-Prot Q9HBU6-EKI1_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.

Gene Ontology (GO) - Biological Process for ETNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with ETNK1: view

No data available for SIGNOR curated interactions for ETNK1 Gene

Drugs & Compounds for ETNK1 Gene

(3) Drugs for ETNK1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanolamine Experimental Pharma 0
Phosphorylcolamine Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for ETNK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with ETNK1: view

Transcripts for ETNK1 Gene

mRNA/cDNA for ETNK1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETNK1

Alternative Splicing Database (ASD) splice patterns (SP) for ETNK1 Gene

No ASD Table

Relevant External Links for ETNK1 Gene

GeneLoc Exon Structure for
ETNK1

Expression for ETNK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ETNK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Colon (Gastrointestinal Tract)
  • Stomach (Gastrointestinal Tract)

Protein differential expression in normal tissues from HIPED for ETNK1 Gene

This gene is overexpressed in Liver, secretome (49.4) and Plasma (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ETNK1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETNK1

SOURCE GeneReport for Unigene cluster for ETNK1 Gene:

Hs.29464

mRNA Expression by UniProt/SwissProt for ETNK1 Gene:

Q9HBU6-EKI1_HUMAN
Tissue specificity: Expressed in kidney, liver, placenta, heart, leukocyte, ovary and testis.

Evidence on tissue expression from TISSUES for ETNK1 Gene

  • Nervous system(4.8)
  • Intestine(3.8)
  • Skin(2.2)
  • Pancreas(2.2)
  • Liver(2.1)
  • Kidney(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with ETNK1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ETNK1 Gene

Orthologs for ETNK1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ETNK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ETNK1 31
  • 100 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ETNK1 30 31
  • 93.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ETNK1 30 31
  • 92.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Etnk1 30
  • 88.92 (n)
Mouse
(Mus musculus)
Mammalia Etnk1 30 17 31
  • 88 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ETNK1 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ETNK1 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ETNK1 30 31
  • 80.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ETNK1 31
  • 72 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii etnk1 30 31
  • 68.99 (n)
OneToOne
wufb38f12 30
Fruit Fly
(Drosophila melanogaster)
Insecta eas 30 31
  • 54.48 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000010 30
  • 51.36 (n)
Worm
(Caenorhabditis elegans)
Secernentea ckc-1 30 31
  • 48.17 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EKI1 31
  • 17 (a)
ManyToMany
CKI1 31
  • 15 (a)
ManyToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU02726 30
  • 47.47 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1866 31
  • 44 (a)
OneToMany
Species where no ortholog for ETNK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ETNK1 Gene

ENSEMBL:
Gene Tree for ETNK1 (if available)
TreeFam:
Gene Tree for ETNK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETNK1: view image

Paralogs for ETNK1 Gene

Paralogs for ETNK1 Gene

(2) SIMAP similar genes for ETNK1 Gene using alignment to 3 proteins:

  • EKI1_HUMAN
  • H0YFP7_HUMAN
  • H0YH69_HUMAN

Pseudogenes.org Pseudogenes for ETNK1 Gene

genes like me logo Genes that share paralogs with ETNK1: view

Variants for ETNK1 Gene

Additional dbSNP identifiers (rs#s) for ETNK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ETNK1 Gene

Variant ID Type Subtype PubMed ID
nsv557757 CNV loss 21841781

Variation tolerance for ETNK1 Gene

Residual Variation Intolerance Score: 68.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.17; 51.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETNK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETNK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETNK1 Gene

Disorders for ETNK1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ETNK1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
atypical chronic myeloid leukemia
  • acml
systemic mastocytosis
  • corneal dystrophy, subepithelial mucinous
chronic myelomonocytic leukemia
  • leukemia, myelomonocytic, chronic
myelodysplastic/myeloproliferative neoplasm
  • myelodysplastic myeloproliferative cancer
- elite association - COSMIC cancer census association via MalaCards
Search ETNK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ETNK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ETNK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ETNK1 Gene

Publications for ETNK1 Gene

  1. Overexpression of a mammalian ethanolamine-specific kinase accelerates the CDP-ethanolamine pathway. (PMID: 11044454) Lykidis A … Jackowski S (The Journal of biological chemistry 2001) 2 3 4 23
  2. Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestation. (PMID: 11912161) Zafarana G … Looijenga LH (Cancer research 2002) 2 3 23
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ETNK1 Gene

Sources for ETNK1 Gene