MBOAT7 (membrane bound O-acyltransferase domain containing 7)

2003-02-01  

Identity

HGNC
MBOAT7
LOCATION
19q13.42
LOCUSID
79143
ALIAS
BB1,LENG4,LPIAT,LPLAT,LRC4,MBOA7,MRT57,OACT7,hMBOA-7
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
268504952016The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent.97
264828802015A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.91
189313472009Recent progress on acyl CoA: lysophospholipid acyltransferase research.90
291223912018Genetics and epigenetics of NAFLD and NASH: Clinical impact.62
187721282008Lysophospholipid acyltransferases and arachidonate recycling in human neutrophils.55
180940422008Caenorhabditis elegans mboa-7, a member of the MBOAT family, is required for selective incorporation of polyunsaturated fatty acids into phosphatidylinositol.41
286744152017MBOAT7 rs641738 variant and hepatocellular carcinoma in non-cirrhotic individuals.32
278369922017Combined effects of the PNPLA3 rs738409, TM6SF2 rs58542926, and MBOAT7 rs641738 variants on NAFLD severity: a multicenter biopsy-based study.28
276300432016MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C.22
281090052017The membrane-bound O-acyltransferase domain-containing 7 variant rs641738 increases inflammation and fibrosis in chronic hepatitis B.15

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