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ETNK1 ethanolamine kinase 1 [ Homo sapiens (human) ]

Gene ID: 55500, updated on 14-Nov-2024

Summary

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Official Symbol
ETNK1provided by HGNC
Official Full Name
ethanolamine kinase 1provided by HGNC
Primary source
HGNC:HGNC:24649
See related
Ensembl:ENSG00000139163 MIM:609858; AllianceGenome:HGNC:24649
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EKI; EKI1; EKI 1; Nbla10396
Summary
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]
Expression
Ubiquitous expression in stomach (RPKM 14.8), colon (RPKM 12.5) and 25 other tissues See more
Orthologs
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Genomic context

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See ETNK1 in Genome Data Viewer
Location:
12p12.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (22625171..22690665)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (22496636..22562113)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (22778105..22843599)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1597 silencer Neighboring gene MPRA-validated peak1598 silencer Neighboring gene small integral membrane protein 30-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6100 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:22778539-22779228 Neighboring gene C2CD5 antisense RNA 1 Neighboring gene ETNK1 divergent transcript Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:22852449-22852990 Neighboring gene long intergenic non-protein coding RNA 2955 Neighboring gene MPRA-validated peak1602 silencer Neighboring gene ribosomal protein S27 pseudogene 22 Neighboring gene MPRA-validated peak1603 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:23178329-23179078 Neighboring gene VISTA enhancer hs1603 Neighboring gene MPRA-validated peak1605 silencer Neighboring gene Sharpr-MPRA regulatory region 9485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:23627288-23627862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:23627863-23628437 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:23662216-23662400 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26611 Neighboring gene NANOG hESC enhancer GRCh37_chr12:23695058-23695588 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:23738604-23739190 Neighboring gene uncharacterized LOC105369697 Neighboring gene SRY-box transcription factor 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia. Shuai W, et al. Cancer, 2023 Mar 15. PMID 36583229
  2. Recurrent ETNK1 mutations in atypical chronic myeloid leukemia. Gambacorti-Passerini CB, et al. Blood, 2015 Jan 15. PMID 25343957
  3. ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine. Fontana D, et al. Nat Commun, 2020 Nov 23. PMID 33230096, Free PMC Article
  4. Novel recurrent mutations in ethanolamine kinase 1 (ETNK1) gene in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia. Lasho TL, et al. Blood Cancer J, 2015 Jan 23. PMID 25615281, Free PMC Article
  5. Overexpression of a mammalian ethanolamine-specific kinase accelerates the CDP-ethanolamine pathway. Lykidis A, et al. J Biol Chem, 2001 Jan 19. PMID 11044454

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia.
    Title: ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia.
  2. ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine.
    Title: ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine.
  3. miR-199a-3p regulates the invasion and migration of gastric cancer cells by targeting ETNK1
    Title: miR-199a-3p targets ETNK1 to promote invasion and migration in gastric cancer cells and is associated with poor prognosis.
  4. we identified novel somatic missense ETNK1 mutations that were most frequent in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia
    Title: Novel recurrent mutations in ethanolamine kinase 1 (ETNK1) gene in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia.
  5. Recurrent ETNK1 mutations are associated with chronic myeloid leukemia.
    Title: Recurrent ETNK1 mutations in atypical chronic myeloid leukemia.
  6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  9. DAD-R, SOX5, and EKI1 map within region of chromosome 12p whose duplication is related to reduced apoptosis in human testicular seminomas.
    Title: 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.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ethanolamine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ethanolamine kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in phosphatidylethanolamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylethanolamine biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phosphatidylethanolamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
ethanolamine kinase 1
Names
putative protein product of Nbla10396
NP_001034570.2
NP_061108.3
XP_005253477.2
XP_016875069.2
XP_016875070.2
XP_047285056.1
XP_054228431.1
XP_054228432.1
XP_054228433.1
XP_054228434.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_065161.1 RefSeqGene

    Range
    5030..70524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1399

mRNA and Protein(s)

  1. NM_001039481.2 → NP_001034570.2  ethanolamine kinase 1 isoform B

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) retains the first two exons, uses an alternate third exon, and lacks all other exons, compared to variant 1. The resulting protein (isoform B) is shorter, has a distinct C-terminus, and lacks the putative active site and kinase domain, compared to isoform A.
    Source sequence(s)
    AC087241
    Consensus CDS
    CCDS41760.2
    UniProtKB/TrEMBL
    Q86U68
    Related
    ENSP00000334041.4, ENST00000335148.8
    Conserved Domains (1) summary
    cl21453
    Location:49 → 140
    PKc_like; Protein Kinases, catalytic domain

  2. NM_018638.5 → NP_061108.3  ethanolamine kinase 1 isoform A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).
    Source sequence(s)
    AC087241
    Consensus CDS
    CCDS8698.2
    UniProtKB/TrEMBL
    A0A5K1VW28, H0YH69
    Related
    ENSP00000266517.4, ENST00000266517.9
    Conserved Domains (1) summary
    cd05157
    Location:49 → 351
    ETNK_euk; Euykaryotic Ethanolamine kinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    22625171..22690665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019580.2 → XP_016875069.2  ethanolamine kinase 1 isoform X1

  2. XM_047429100.1 → XP_047285056.1  ethanolamine kinase 1 isoform X3

  3. XM_017019581.2 → XP_016875070.2  ethanolamine kinase 1 isoform X2

  4. XM_005253420.5 → XP_005253477.2  ethanolamine kinase 1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    22496636..22562113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372456.1 → XP_054228431.1  ethanolamine kinase 1 isoform X1

  2. XM_054372458.1 → XP_054228433.1  ethanolamine kinase 1 isoform X3

  3. XM_054372457.1 → XP_054228432.1  ethanolamine kinase 1 isoform X2

  4. XM_054372459.1 → XP_054228434.1  ethanolamine kinase 1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HBU6.1 GenPept UniProtKB/Swiss-Prot:Q9HBU6

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