Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ETNK1 Gene

Aliases for ETNK1 Gene

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

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. 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 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 , fRNAdb sequence ontologies and piRNA Summary for ETNK1 Gene

Genomics for ETNK1 Gene

GeneHancer (GH) Regulatory Elements for ETNK1 Gene

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
GH12I022623 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.5 1469 5.7 HDGF FOXA2 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF143 LOC105369691 ETNK1 C2CD5 ENSG00000274885
GH12I023564 Enhancer 0.8 UCNEbase 10.8 +939.5 939541 0.5 MEIS2 PKNOX1 GTF2E2 FEZF1 ZBTB8A ZNF843 BCL11B PRDM6 POLR2A BCL6B ETNK1 LOC105369697 GC12P023452 GC12P023453 SOX5
GH12I022254 Enhancer 0.6 Ensembl ENCODE 5.4 -369.2 -369232 2.6 RFX1 MAX RNU1-149P ETNK1 GC12M021918 LOC105369151 ST8SIA1
GH12I022686 Enhancer 1.1 Ensembl ENCODE dbSUPER 0.2 +62.6 62581 1.5 JUN BACH1 BMI1 BATF IRF4 NFATC1 ATF7 ETV6 BCLAF1 IKZF2 GC12M022684 GC12P022685 C2CD5 ETNK1
GH12I022631 Enhancer 0.5 ENCODE 0.4 +7.0 6957 0.1 CC2D1A CTCF ZNF654 ARID2 ZNF143 ZNF384 RAD21 LOC105369691 ETNK1 ENSG00000274885
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ETNK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ETNK1 gene promoter:

Genomic Locations for ETNK1 Gene

Genomic Locations for ETNK1 Gene
chr12:22,625,075-22,690,674
(GRCh38/hg38)
Size:
65,600 bases
Orientation:
Plus strand
chr12:22,778,009-22,843,608
(GRCh37/hg19)

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

Other Protein References for ETNK1 Gene

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

Suggested Antigen Peptide Sequences for ETNK1 Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
ATP + ethanolamine = ADP + O-phosphoethanolamine.
UniProtKB/Swiss-Prot Function:
Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis.

Enzyme Numbers (IUBMB) for ETNK1 Gene

Gene Ontology (GO) - Molecular Function for ETNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004305 ethanolamine kinase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase 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:

miRNA for ETNK1 Gene

miRTarBase miRNAs that target ETNK1

Clone Products

  • Addgene plasmids for ETNK1

No data available for Phenotypes From GWAS Catalog , 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
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 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 TAS,IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA,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 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with ETNK1: view

Transcripts for ETNK1 Gene

Unigene Clusters for ETNK1 Gene

Ethanolamine kinase 1:
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
ETNK1

Expression for ETNK1 Gene

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

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, PaxDb, MaxQB, and MOPED for ETNK1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ETNK1 Gene:

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(4.7)
  • Intestine(3.5)
genes like me logo Genes that share expression patterns with ETNK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ETNK1 33 34
  • 93.36 (n)
dog
(Canis familiaris)
Mammalia ETNK1 33 34
  • 92.55 (n)
rat
(Rattus norvegicus)
Mammalia Etnk1 33
  • 88.92 (n)
mouse
(Mus musculus)
Mammalia Etnk1 33 16 34
  • 88 (n)
oppossum
(Monodelphis domestica)
Mammalia ETNK1 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETNK1 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETNK1 33 34
  • 80.24 (n)
lizard
(Anolis carolinensis)
Reptilia ETNK1 34
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii etnk1 33 34
  • 68.99 (n)
wufb38f12 33
fruit fly
(Drosophila melanogaster)
Insecta eas 33 34
  • 54.48 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000010 33
  • 51.36 (n)
worm
(Caenorhabditis elegans)
Secernentea ckc-1 33 34
  • 48.17 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EKI1 34
  • 17 (a)
ManyToMany
CKI1 34
  • 15 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU02726 33
  • 47.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1866 34
  • 44 (a)
OneToMany
Species where no ortholog for ETNK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ETNK1 Gene

Paralogs for ETNK1 Gene

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

Pseudogenes.org Pseudogenes for ETNK1 Gene

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

Variants for ETNK1 Gene

Sequence variations from dbSNP and Humsavar for ETNK1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000029850 -- 22,646,580(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000036930 -- 22,623,232(+) C/T upstream_transcript_variant
rs1000042073 -- 22,651,941(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000062438 -- 22,666,809(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000145776 -- 22,646,840(+) A/C genic_downstream_transcript_variant, intron_variant

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 for ETNK1 Gene

Disorders for ETNK1 Gene

Additional Disease Information for ETNK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ETNK1 Gene.

No data available for MalaCards , 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 22 58
  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 22 58
  3. 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 44 58
  4. 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 44 58
  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 58

Products for ETNK1 Gene

  • Addgene plasmids for ETNK1

Sources for ETNK1 Gene

Content
Loading form....