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    ETNK1 ethanolamine kinase 1 [ Homo sapiens (human) ]

    Gene ID: 55500, updated on 27-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
    mouse all
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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

    Gene LinkOut

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