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    ETNK1 ethanolamine kinase 1 [ Homo sapiens (human) ]

    Gene ID: 55500, updated on 3-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001039481.2NP_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:49140
      PKc_like; Protein Kinases, catalytic domain
    2. NM_018638.5NP_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:49351
      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_017019580.2XP_016875069.2  ethanolamine kinase 1 isoform X1

      UniProtKB/TrEMBL
      H0YH69
    2. XM_047429100.1XP_047285056.1  ethanolamine kinase 1 isoform X3

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

    4. XM_005253420.5XP_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_054372456.1XP_054228431.1  ethanolamine kinase 1 isoform X1

      UniProtKB/TrEMBL
      H0YH69
    2. XM_054372458.1XP_054228433.1  ethanolamine kinase 1 isoform X3

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

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