ETNK1 - ethanolamine kinase 1 Gene

Also Known as EKI; EKI1; EKI 1; Nbla10396

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55500

About ETNK1

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:22,625,171-22,690,665 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 61 phenotypes. Ubiquitous expression in stomach (RPKM 14.8), colon (RPKM 12.5) and 25 other tissues.

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]

ETNK1 Products (2)

mRNA Protein Name
NM_001039481.2 NP_001034570.2 ethanolamine kinase 1 isoform B
NM_018638.5 NP_061108.3 ethanolamine kinase 1 isoform A
Molecular Function GO Annotation Evidence Verweise Source
enables ethanolamine kinase activity IDA
IDA: Inferred from direct assay
11044454 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in phosphatidylethanolamine biosynthetic process IDA
IDA: Inferred from direct assay
11044454 GOA
Cellular Component GO Annotation Evidence Verweise Source
is active in cytoplasm IDA
IDA: Inferred from direct assay
11044454 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ETNK1 Protein Structure

Choline_kinase

Choline_kinase: Choline/ethanolamine kinase (163 - 364)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 452 a.a.
Protein Preferred Names Protein Names

ethanolamine kinase 1

  • putative protein product of Nbla10396

ETNK1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
ETNK1 Q9HBU6 UBQLN1 Homo sapiens Q9UMX0-2 25416956
Intra
ETNK1 Q9HBU6 UBQLN1 Homo sapiens Q9UMX0-2 25416956
Intra
ETNK1 Q9HBU6 UBQLN1 Homo sapiens Q9UMX0-2 25416956
Intra
ETNK1 Q9HBU6 SLC51B Homo sapiens Q86UW2 32296183
Intra
ETNK1 Q9HBU6 SLC51B Homo sapiens Q86UW2 32296183
Intra
ETNK1 Q9HBU6 CAMLG Homo sapiens P49069 32296183
Intra
ETNK1 Q9HBU6 CAMLG Homo sapiens P49069 32296183
Intra
ETNK1 Q9HBU6 SGTA Homo sapiens O43765 32296183
Intra
ETNK1 Q9HBU6 SGTA Homo sapiens O43765 32296183
Intra
ETNK1 Q9HBU6 UBQLN1 Homo sapiens Q9UMX0 25416956
Intra
ETNK1 Q9HBU6 UBQLN1 Homo sapiens Q9UMX0 25416956
Intra
ETNK1 Q9HBU6 SGTB Homo sapiens Q96EQ0 32296183
Intra
ETNK1 Q9HBU6 SGTB Homo sapiens Q96EQ0 32296183
Intra
ETNK1 Q9HBU6 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
ETNK1 Q9HBU6 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
ETNK1 Q9HBU6 UBQLN2 Homo sapiens Q9UHD9 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative
  • Atypical Chronic Myeloid Leukemia

  • Atypical Chronic Myeloid Leukaemia

  • Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

  • Acml

  • Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative

  • Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

  • Atypical Cml

  • Subacute Myeloid Leukemia

  • Subacute Myelogenous Leukaemia

  • Subacute Myeloid Leukaemia

  • Subacute Myelosis

  • Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission

  • Subacute Monocytic Leukaemia Without Mention Of Remission

  • Subacute Monocytic Leukaemia

Myelodysplastic/Myeloproliferative Neoplasm
  • Myelodysplastic-Myeloproliferative Diseases

  • Myelodysplastic/Myeloproliferative Disease

  • Myelodysplastic Myeloproliferative Cancer

  • Myelodysplastic Myeloproliferative Disease

  • Myeloproliferative/Myelodysplastic Syndromes

Chronic Neutrophilic Leukemia
  • Cnl

  • Leukemia Neutrophilic Chronic

Bladder Neck Obstruction
  • Obstruction Of Bladder Neck Or Vesicourethral Orifice

  • Urinary Bladder Neck Obstruction

  • Bladder Outlet Obstruction

  • Vesicourethral Orifice Obstruction

  • Bno - [Bladder Neck Obstruction]

  • Bladder Obstruction Nos

  • Acquired Bladder Neck Obstruction

  • Acquired Obstruction Of Bladder Neck Or Vesicourethral Orifice

  • Bladder Neck Strangulation

  • Bladder Neck Stricture

  • Bladder Outflow Obstruction

  • Contracture Of Bladder Neck Or Sphincter

  • Contracture Of Bladder Neck

  • Obstructed Vesicourethral Orifice

  • Strangulation Of Vesicourethral Orifice

  • Stricture Of Vesicourethral Orifice

  • Urinary Prostatic Valve Obstruction

  • Vesical Obstruction

Chronic Leukemia
  • Adult Chronic Leukemia

  • Cll

  • Cml

Aggressive Systemic Mastocytosis
  • Asm

  • Lymphadenopathic Mastocytosis With Eosinophilia

Chronic Myelomonocytic Leukemia
  • Leukemia, Myelomonocytic, Chronic

  • Cmml

  • Leukemia Myelomonocytic Chronic

  • Cmml - [Chronic Myelomonocytic Leukaemia]

  • Chronic Myelomonocytic Leukaemia Without Mention Of Remission

  • Chronic Monocytic Leukaemia

  • Chronic Monocytoid Leukaemia

Juvenile Myelomonocytic Leukemia
  • Leukemia, Juvenile Myelomonocytic

  • JMML

  • Leukemia, Juvenile Myelomonocytic, Somatic

  • Juvenile Chronic Myelomonocytic Leukemia

  • Juvenile Chronic Myelogenous Leukemia

  • Leukemia, Myelomonocytic, Juvenile

  • Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus ETNK1 VGNC VGNC:61978
Macaca mulatta ETNK1 VGNC VGNC:72329
Canis familiaris ETNK1 VGNC VGNC:40492
Rattus norvegicus ETNK1 RGD RGD:1308204
Mus musculus ETNK1 MGD MGI:1922570
Bos taurus ETNK1 VGNC VGNC:28624
Others ETNK1 NCBI