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ETNK1 ethanolamine kinase 1 [ Homo sapiens (human) ]

Gene ID: 55500, updated on 26-May-2016
Official Symbol
ETNK1provided by HGNC
Official Full Name
ethanolamine kinase 1provided by HGNC
Primary source
HGNC:HGNC:24649
See related
Ensembl:ENSG00000139163 HPRD:09934; MIM:609858; Vega:OTTHUMG00000169008
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]
Orthologs
Location:
12p12.1
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (22625142..22690674)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (22778076..22843608)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369691 Neighboring gene uncharacterized LOC105369692 Neighboring gene leucine rich repeat containing 34 pseudogene 1 Neighboring gene ribosomal protein S27 pseudogene 22 Neighboring gene uncharacterized LOC105369693

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ethanolamine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
ethanolamine kinase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
phosphatidylethanolamine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylethanolamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylethanolamine biosynthetic process TAS
Traceable Author Statement
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
ethanolamine kinase 1
Names
putative protein product of Nbla10396
NP_001034570.1
NP_061108.2

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.

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001034570.1

    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)
    BC006111, BC066907
    Consensus CDS
    CCDS41760.1
    UniProtKB/Swiss-Prot
    Q9HBU6
    Related
    ENSP00000334041, OTTHUMP00000239921, ENST00000335148, OTTHUMT00000401927
    Conserved Domains (1) summary
    cl21453
    Location:138229
    PKc_like; Protein Kinases, catalytic domain
  2. NM_018638.4NP_061108.2  ethanolamine kinase 1 isoform A

    See identical proteins and their annotated locations for NP_061108.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).
    Source sequence(s)
    AC087241, BC066907
    Consensus CDS
    CCDS8698.1
    UniProtKB/Swiss-Prot
    Q9HBU6
    Related
    ENSP00000266517, OTTHUMP00000239920, ENST00000266517, OTTHUMT00000401926
    Conserved Domains (2) summary
    pfam01636
    Location:139380
    APH; Phosphotransferase enzyme family
    cd05157
    Location:138440
    ETNK_euk; Euykaryotic Ethanolamine kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    22625142..22690674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520741.1XP_011519043.1  

    Related
    ENSP00000446292, OTTHUMP00000239922, ENST00000538218, OTTHUMT00000401928
    Conserved Domains (2) summary
    pfam01636
    Location:139380
    APH; Phosphotransferase enzyme family
    cd05157
    Location:138404
    ETNK_euk; Euykaryotic Ethanolamine kinase
  2. XM_011520740.1XP_011519042.1  

    Conserved Domains (2) summary
    pfam01636
    Location:139380
    APH; Phosphotransferase enzyme family
    cd05157
    Location:138404
    ETNK_euk; Euykaryotic Ethanolamine kinase
  3. XM_005253420.3XP_005253477.1  

    Conserved Domains (1) summary
    cl21453
    Location:138228
    PKc_like; Protein Kinases, catalytic domain

RNA

  1. XR_931310.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    22743111..22808624
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)