ETNK1 ethanolamine kinase 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 12p12.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (22625171..22690665)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (22496636..22562113)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (22778105..22843599)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Recurrent ETNK1 mutations are associated with chronic myeloid leukemia.
Title: Recurrent ETNK1 mutations in atypical chronic myeloid leukemia.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-148915 (e-PCR)
- UniSTS:173073

STS-H56029 (e-PCR)
- UniSTS:46

RH98845 (e-PCR)
- UniSTS:88965

RH102410 (e-PCR)
- UniSTS:96744

RH92963 (e-PCR)
- UniSTS:89339

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
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: ethanolamine kinase 1

Names: putative protein product of Nbla10396

NP_001034570.2

EC 2.7.1.82

NP_061108.3

EC 2.7.1.82

XP_005253477.2

EC 2.7.1.82

XP_016875069.2

EC 2.7.1.82

XP_016875070.2

EC 2.7.1.82

XP_047285056.1

EC 2.7.1.82

XP_054228431.1

EC 2.7.1.82

XP_054228432.1

EC 2.7.1.82

XP_054228433.1

EC 2.7.1.82

XP_054228434.1

EC 2.7.1.82

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

NG_065161.1 RefSeqGene

Range

5030..70524

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1399

mRNA and Protein(s)

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
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