ETNPPL (ethanolamine-phosphate phospho-lyase)

2016-08-01  

Identity

HGNC
LOCATION
4q25
LOCUSID
ALIAS
AGXT2L1

Other Information

Locus ID:

NCBI: 64850
MIM: 614682
HGNC: 14404
Ensembl: ENSG00000164089

Variants:

dbSNP: 64850
ClinVar: 64850
TCGA: ENSG00000164089
COSMIC: ETNPPL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164089ENST00000296486Q8TBG4
ENSG00000164089ENST00000411864Q8TBG4
ENSG00000164089ENST00000505233D6R9Y3
ENSG00000164089ENST00000509402D6RE94
ENSG00000164089ENST00000510706E7ENR6
ENSG00000164089ENST00000510723D6RFL9
ENSG00000164089ENST00000512320D6RGG2
ENSG00000164089ENST00000512646Q8TBG4

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PEREACTOMER-HSA-1483213

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
262947682016AGXT2L1 is down-regulated in heptocellular carcinoma and associated with abnormal lipogenesis.7
237613752013Strict reaction and substrate specificity of AGXT2L1, the human O-phosphoethanolamine phospho-lyase.4
253277122015Kinetic characterization of the human O-phosphoethanolamine phospho-lyase reveals unconventional features of this specialized pyridoxal phosphate-dependent lyase.3

Citation

Dessen P

ETNPPL (ethanolamine-phosphate phospho-lyase)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55834/etnppl