MBOAT1 (membrane bound O-acyltransferase domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
6p22.3
LOCUSID
ALIAS
LPEAT1,LPLAT,LPLAT 1,LPSAT,OACT1,dJ434O11.1
FUSION GENES

Other Information

Locus ID:

NCBI: 154141
MIM: 611732
HGNC: 21579
Ensembl: ENSG00000172197

Variants:

dbSNP: 154141
ClinVar: 154141
TCGA: ENSG00000172197
COSMIC: MBOAT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172197ENST00000324607Q6ZNC8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
Glycerophospholipid metabolismKEGGko00564
Glycerolipid metabolismKEGGhsa00561
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
Triacylglycerol biosynthesisKEGGhsa_M00089
Triacylglycerol biosynthesisKEGGM00089
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Acyl chain remodelling of PEREACTOMER-HSA-1482839
Acyl chain remodelling of PSREACTOMER-HSA-1482801

References

Pubmed IDYearTitleCitations
345966012022MBOAT1 homozygous missense variant causes nonobstructive azoospermia.4
345966012022MBOAT1 homozygous missense variant causes nonobstructive azoospermia.4

Citation

Dessen P

MBOAT1 (membrane bound O-acyltransferase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68835/favicon/gene-explorer/