GNPAT (glyceronephosphate O-acyltransferase)

2021-06-01  

Identity

HGNC
LOCATION
1q42.2
LOCUSID
ALIAS
DAP-AT,DAPAT,DHAPAT,RCDP2

Other Information

Locus ID:

NCBI: 8443
MIM: 602744
HGNC: 4416
Ensembl: ENSG00000116906

Variants:

dbSNP: 8443
ClinVar: 8443
TCGA: ENSG00000116906
COSMIC: GNPAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116906ENST00000366647O15228
ENSG00000116906ENST00000416000Q5TBH8
ENSG00000116906ENST00000436239Q5TBH6
ENSG00000116906ENST00000644483A0A2R8YH69

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Glycerophospholipid metabolismKEGGhsa00564
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918
Plasmalogen biosynthesisREACTOMER-HSA-75896
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PAREACTOMER-HSA-1483166

References

Pubmed IDYearTitleCitations
361619512022Genetic adaptation of skin pigmentation in highland Tibetans.3
361619512022Genetic adaptation of skin pigmentation in highland Tibetans.3
319744742020Stabilization of FASN by ACAT1-mediated GNPAT acetylation promotes lipid metabolism and hepatocarcinogenesis.56
326524592020Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.2
319744742020Stabilization of FASN by ACAT1-mediated GNPAT acetylation promotes lipid metabolism and hepatocarcinogenesis.56
326524592020Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.2
301435222018Amplification of Glyceronephosphate O-Acyltransferase and Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis.27
301435222018Amplification of Glyceronephosphate O-Acyltransferase and Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis.27
279363962017GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.8
282928312017Reduction of Ether-Type Glycerophospholipids, Plasmalogens, by NF-κB Signal Leading to Microglial Activation.15
284254162017GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors.9
279363962017GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.8
282928312017Reduction of Ether-Type Glycerophospholipids, Plasmalogens, by NF-κB Signal Leading to Microglial Activation.15
284254162017GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors.9
277405252016 GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.4

Citation

Dessen P

GNPAT (glyceronephosphate O-acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58335/gnpat-(glyceronephosphate-o-acyltransferase)