MBOAT7 (membrane bound O-acyltransferase domain containing 7)

2003-02-01  

Identity

HGNC
LOCATION
19q13.42
LOCUSID
ALIAS
BB1,LENG4,LPIAT,LPLAT,LRC4,MBOA7,MRT57,OACT7,hMBOA-7
FUSION GENES

Other Information

Locus ID:

NCBI: 79143
MIM: 606048
HGNC: 15505
Ensembl: ENSG00000125505

Variants:

dbSNP: 79143
ClinVar: 79143
TCGA: ENSG00000125505
COSMIC: MBOAT7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125505ENST00000245615Q96N66
ENSG00000125505ENST00000338624Q96N66
ENSG00000125505ENST00000391754Q96N66
ENSG00000125505ENST00000414665A9C4B8
ENSG00000125505ENST00000431666Q96N66
ENSG00000125505ENST00000437868F8WD95
ENSG00000125505ENST00000449249H7C2M4
ENSG00000125505ENST00000453320C9J4E9
ENSG00000125505ENST00000495279M0R1Z5

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Glycerophospholipid metabolismKEGGhsa00564
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Acyl chain remodelling of PIREACTOMER-HSA-1482922

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
380882342024Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.0
381835012024MBOAT7 expression is associated with disease progression in COVID-19 patients.0
386481832024Membrane-bound O-acyltransferase 7 (MBOAT7) shapes lysosomal lipid homeostasis and function to control alcohol-associated liver injury.1
386822042024A Cell Specific Effect of MBOAT7 MAFLD-risk Variant on Immune Cells.0
380882342024Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.0
381835012024MBOAT7 expression is associated with disease progression in COVID-19 patients.0
386481832024Membrane-bound O-acyltransferase 7 (MBOAT7) shapes lysosomal lipid homeostasis and function to control alcohol-associated liver injury.1
386822042024A Cell Specific Effect of MBOAT7 MAFLD-risk Variant on Immune Cells.0
370297452023Effects of MBOAT7 polymorphism and steatosis on liver function assessed by methacetin breath test.0
374248752023MBOAT7 rs641738 (C>T) is associated with NAFLD progression in men and decreased ASCVD risk in elder Chinese population.2
376055402023MBOAT7 in liver and extrahepatic diseases.3
376844332023MBOAT7 rs641738 Variant Is Not Associated with an Increased Risk of Hepatocellular Carcinoma in a Latin American Cohort.2
376911452023MMD collaborates with ACSL4 and MBOAT7 to promote polyunsaturated phosphatidylinositol remodeling and susceptibility to ferroptosis.5
370297452023Effects of MBOAT7 polymorphism and steatosis on liver function assessed by methacetin breath test.0
374248752023MBOAT7 rs641738 (C>T) is associated with NAFLD progression in men and decreased ASCVD risk in elder Chinese population.2

Citation

Dessen P

MBOAT7 (membrane bound O-acyltransferase domain containing 7)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41139/mboat7