Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79143
Gene name	Membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7
Gene symbol	MBOAT7
Synonyms (NCBI Gene)	BB1LENG4LPIATLPIAT1LPLATLPLAT11LRC4MBOA7MRT57OACT7hMBOA-7
Chromosome	19
Chromosome location	19q13.42
Summary	This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs750035706	GCAGCCGCACTCGGCGGCAAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs886041059	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041060	C>G	Pathogenic	Splice donor variant
rs886041061	GGCCGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1600651595	TGCAGCCGCACTC>-	Pathogenic	Frameshift variant, coding sequence variant

192

Show/Hide all (192)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031240	hsa-miR-19b-3p	Sequencing	20371350
MIRT041731	hsa-miR-484	CLASH	23622248
MIRT039960	hsa-miR-615-3p	CLASH	23622248
MIRT1135927	hsa-miR-1205	CLIP-seq
MIRT1135928	hsa-miR-1245b-3p	CLIP-seq
MIRT1135929	hsa-miR-1253	CLIP-seq
MIRT1135930	hsa-miR-203	CLIP-seq
MIRT1135931	hsa-miR-24	CLIP-seq
MIRT1135932	hsa-miR-3127-3p	CLIP-seq
MIRT1135933	hsa-miR-3153	CLIP-seq
MIRT1135934	hsa-miR-329	CLIP-seq
MIRT1135935	hsa-miR-3611	CLIP-seq
MIRT1135936	hsa-miR-362-3p	CLIP-seq
MIRT1135937	hsa-miR-3661	CLIP-seq
MIRT1135938	hsa-miR-3679-3p	CLIP-seq
MIRT1135939	hsa-miR-3941	CLIP-seq
MIRT1135940	hsa-miR-3977	CLIP-seq
MIRT1135941	hsa-miR-4281	CLIP-seq
MIRT1135942	hsa-miR-4284	CLIP-seq
MIRT1135943	hsa-miR-4328	CLIP-seq
MIRT1135944	hsa-miR-4330	CLIP-seq
MIRT1135945	hsa-miR-4527	CLIP-seq
MIRT1135946	hsa-miR-466	CLIP-seq
MIRT1135947	hsa-miR-4668-5p	CLIP-seq
MIRT1135948	hsa-miR-4672	CLIP-seq
MIRT1135949	hsa-miR-4717-5p	CLIP-seq
MIRT1135950	hsa-miR-4731-5p	CLIP-seq
MIRT1135951	hsa-miR-4740-3p	CLIP-seq
MIRT1135952	hsa-miR-603	CLIP-seq
MIRT1135953	hsa-miR-615-5p	CLIP-seq
MIRT1135954	hsa-miR-631	CLIP-seq
MIRT1135955	hsa-miR-665	CLIP-seq
MIRT1135956	hsa-miR-671-5p	CLIP-seq
MIRT1135957	hsa-miR-758	CLIP-seq
MIRT1135958	hsa-miR-1207-3p	CLIP-seq
MIRT1135959	hsa-miR-1207-5p	CLIP-seq
MIRT1135960	hsa-miR-1231	CLIP-seq
MIRT1135961	hsa-miR-2110	CLIP-seq
MIRT1135962	hsa-miR-2277-3p	CLIP-seq
MIRT1135963	hsa-miR-2467-3p	CLIP-seq
MIRT1135964	hsa-miR-3125	CLIP-seq
MIRT1135965	hsa-miR-3150a-3p	CLIP-seq
MIRT1135966	hsa-miR-3150b-3p	CLIP-seq
MIRT1135967	hsa-miR-3175	CLIP-seq
MIRT1135968	hsa-miR-3655	CLIP-seq
MIRT1135969	hsa-miR-3674	CLIP-seq
MIRT1135970	hsa-miR-3689d	CLIP-seq
MIRT1135971	hsa-miR-378	CLIP-seq
MIRT1135972	hsa-miR-378b	CLIP-seq
MIRT1135973	hsa-miR-378c	CLIP-seq
MIRT1135974	hsa-miR-378d	CLIP-seq
MIRT1135975	hsa-miR-378e	CLIP-seq
MIRT1135976	hsa-miR-378f	CLIP-seq
MIRT1135977	hsa-miR-378h	CLIP-seq
MIRT1135978	hsa-miR-378i	CLIP-seq
MIRT1135979	hsa-miR-3916	CLIP-seq
MIRT1135940	hsa-miR-3977	CLIP-seq
MIRT1135980	hsa-miR-422a	CLIP-seq
MIRT1135981	hsa-miR-4271	CLIP-seq
MIRT1135982	hsa-miR-4288	CLIP-seq
MIRT1135983	hsa-miR-4314	CLIP-seq
MIRT1135984	hsa-miR-4419a	CLIP-seq
MIRT1135985	hsa-miR-4510	CLIP-seq
MIRT1135986	hsa-miR-4514	CLIP-seq
MIRT1135987	hsa-miR-4522	CLIP-seq
MIRT1135945	hsa-miR-4527	CLIP-seq
MIRT1135988	hsa-miR-4638-3p	CLIP-seq
MIRT1135989	hsa-miR-4640-5p	CLIP-seq
MIRT1135990	hsa-miR-4667-5p	CLIP-seq
MIRT1135991	hsa-miR-4692	CLIP-seq
MIRT1135992	hsa-miR-4700-5p	CLIP-seq
MIRT1135993	hsa-miR-4725-3p	CLIP-seq
MIRT1135994	hsa-miR-4726-5p	CLIP-seq
MIRT1135950	hsa-miR-4731-5p	CLIP-seq
MIRT1135995	hsa-miR-4757-5p	CLIP-seq
MIRT1135996	hsa-miR-4763-3p	CLIP-seq
MIRT1135997	hsa-miR-4784	CLIP-seq
MIRT1135998	hsa-miR-542-3p	CLIP-seq
MIRT1135999	hsa-miR-632	CLIP-seq
MIRT1136000	hsa-miR-637	CLIP-seq
MIRT1136001	hsa-miR-765	CLIP-seq
MIRT1136002	hsa-miR-939	CLIP-seq
MIRT1136003	hsa-miR-940	CLIP-seq
MIRT2038617	hsa-miR-1197	CLIP-seq
MIRT1135959	hsa-miR-1207-5p	CLIP-seq
MIRT1135928	hsa-miR-1245b-3p	CLIP-seq
MIRT1135929	hsa-miR-1253	CLIP-seq
MIRT2038618	hsa-miR-1260	CLIP-seq
MIRT2038619	hsa-miR-1260b	CLIP-seq
MIRT2038620	hsa-miR-1285	CLIP-seq
MIRT2038621	hsa-miR-1321	CLIP-seq
MIRT2038622	hsa-miR-188-3p	CLIP-seq
MIRT2038623	hsa-miR-1913	CLIP-seq
MIRT2038624	hsa-miR-1915	CLIP-seq
MIRT2038625	hsa-miR-21	CLIP-seq
MIRT2038626	hsa-miR-2115	CLIP-seq
MIRT2038627	hsa-miR-2276	CLIP-seq
MIRT1135931	hsa-miR-24	CLIP-seq
MIRT1135963	hsa-miR-2467-3p	CLIP-seq
MIRT1135933	hsa-miR-3153	CLIP-seq
MIRT2038628	hsa-miR-3156-3p	CLIP-seq
MIRT2038629	hsa-miR-3187-5p	CLIP-seq
MIRT2038630	hsa-miR-324-3p	CLIP-seq
MIRT2038631	hsa-miR-326	CLIP-seq
MIRT1135934	hsa-miR-329	CLIP-seq
MIRT2038632	hsa-miR-330-5p	CLIP-seq
MIRT2038633	hsa-miR-3616-3p	CLIP-seq
MIRT1135936	hsa-miR-362-3p	CLIP-seq
MIRT1135937	hsa-miR-3661	CLIP-seq
MIRT2038634	hsa-miR-3667-3p	CLIP-seq
MIRT2038635	hsa-miR-3691-3p	CLIP-seq
MIRT2038636	hsa-miR-378g	CLIP-seq
MIRT1135939	hsa-miR-3941	CLIP-seq
MIRT2038637	hsa-miR-4270	CLIP-seq
MIRT1135941	hsa-miR-4281	CLIP-seq
MIRT1135942	hsa-miR-4284	CLIP-seq
MIRT2038638	hsa-miR-4289	CLIP-seq
MIRT2038639	hsa-miR-4301	CLIP-seq
MIRT2038640	hsa-miR-4313	CLIP-seq
MIRT1135944	hsa-miR-4330	CLIP-seq
MIRT2038641	hsa-miR-4436b-3p	CLIP-seq
MIRT2038642	hsa-miR-4441	CLIP-seq
MIRT2038643	hsa-miR-4466	CLIP-seq
MIRT2038644	hsa-miR-4486	CLIP-seq
MIRT1135946	hsa-miR-466	CLIP-seq
MIRT1135947	hsa-miR-4668-5p	CLIP-seq
MIRT1135948	hsa-miR-4672	CLIP-seq
MIRT1135949	hsa-miR-4717-5p	CLIP-seq
MIRT2038645	hsa-miR-4726-3p	CLIP-seq
MIRT1135950	hsa-miR-4731-5p	CLIP-seq
MIRT2038646	hsa-miR-4739	CLIP-seq
MIRT1135951	hsa-miR-4740-3p	CLIP-seq
MIRT2038647	hsa-miR-4747-5p	CLIP-seq
MIRT2038648	hsa-miR-4756-5p	CLIP-seq
MIRT1135996	hsa-miR-4763-3p	CLIP-seq
MIRT2038649	hsa-miR-4772-3p	CLIP-seq
MIRT2038650	hsa-miR-4786-3p	CLIP-seq
MIRT2038651	hsa-miR-4796-3p	CLIP-seq
MIRT2038652	hsa-miR-492	CLIP-seq
MIRT2038653	hsa-miR-516a-3p	CLIP-seq
MIRT2038654	hsa-miR-548n	CLIP-seq
MIRT2038655	hsa-miR-548t	CLIP-seq
MIRT2038656	hsa-miR-556-5p	CLIP-seq
MIRT2038657	hsa-miR-590-5p	CLIP-seq
MIRT1135952	hsa-miR-603	CLIP-seq
MIRT2038658	hsa-miR-610	CLIP-seq
MIRT2038659	hsa-miR-612	CLIP-seq
MIRT1135953	hsa-miR-615-5p	CLIP-seq
MIRT1135954	hsa-miR-631	CLIP-seq
MIRT1135955	hsa-miR-665	CLIP-seq
MIRT1135956	hsa-miR-671-5p	CLIP-seq
MIRT2038660	hsa-miR-675	CLIP-seq
MIRT2038618	hsa-miR-1260	CLIP-seq
MIRT2038619	hsa-miR-1260b	CLIP-seq
MIRT2038622	hsa-miR-188-3p	CLIP-seq
MIRT2038623	hsa-miR-1913	CLIP-seq
MIRT2038624	hsa-miR-1915	CLIP-seq
MIRT2038628	hsa-miR-3156-3p	CLIP-seq
MIRT2568059	hsa-miR-3188	CLIP-seq
MIRT2038630	hsa-miR-324-3p	CLIP-seq
MIRT2568060	hsa-miR-3691-5p	CLIP-seq
MIRT2038638	hsa-miR-4289	CLIP-seq
MIRT2038639	hsa-miR-4301	CLIP-seq
MIRT2038640	hsa-miR-4313	CLIP-seq
MIRT2568061	hsa-miR-4457	CLIP-seq
MIRT2038645	hsa-miR-4726-3p	CLIP-seq
MIRT2568062	hsa-miR-4731-3p	CLIP-seq
MIRT2568063	hsa-miR-4752	CLIP-seq
MIRT2568064	hsa-miR-4801	CLIP-seq
MIRT2038652	hsa-miR-492	CLIP-seq
MIRT2568065	hsa-miR-518a-5p	CLIP-seq
MIRT2568066	hsa-miR-527	CLIP-seq
MIRT2038618	hsa-miR-1260	CLIP-seq
MIRT2038619	hsa-miR-1260b	CLIP-seq
MIRT2038622	hsa-miR-188-3p	CLIP-seq
MIRT2038623	hsa-miR-1913	CLIP-seq
MIRT2038624	hsa-miR-1915	CLIP-seq
MIRT2038628	hsa-miR-3156-3p	CLIP-seq
MIRT2568059	hsa-miR-3188	CLIP-seq
MIRT2038630	hsa-miR-324-3p	CLIP-seq
MIRT2568060	hsa-miR-3691-5p	CLIP-seq
MIRT2038638	hsa-miR-4289	CLIP-seq
MIRT2038639	hsa-miR-4301	CLIP-seq
MIRT2038640	hsa-miR-4313	CLIP-seq
MIRT2568061	hsa-miR-4457	CLIP-seq
MIRT2038645	hsa-miR-4726-3p	CLIP-seq
MIRT2568062	hsa-miR-4731-3p	CLIP-seq
MIRT2568063	hsa-miR-4752	CLIP-seq
MIRT2568064	hsa-miR-4801	CLIP-seq
MIRT2038652	hsa-miR-492	CLIP-seq
MIRT2568065	hsa-miR-518a-5p	CLIP-seq
MIRT2568066	hsa-miR-527	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	21903422, 23510452
GO:0005783	Component	Endoplasmic reticulum	IDA	30959108
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IBA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IMP	18094042
GO:0008374	Function	O-acyltransferase activity	IDA	18772128
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0008374	Function	O-acyltransferase activity	IMP	18094042
GO:0008374	Function	O-acyltransferase activity	ISS
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021819	Process	Layer formation in cerebral cortex	ISS
GO:0030258	Process	Lipid modification	IBA
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	IDA	18772128
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	IEA
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	IMP	32253259
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	TAS
GO:0036151	Process	Phosphatidylcholine acyl-chain remodeling	IDA	18772128
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IBA
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	23510452
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0047144	Function	2-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0071617	Function	Lysophospholipid acyltransferase activity	IBA
GO:0071617	Function	Lysophospholipid acyltransferase activity	IEA
GO:0071617	Function	Lysophospholipid acyltransferase activity	ISS
GO:0090207	Process	Regulation of triglyceride metabolic process	IEA
GO:0090207	Process	Regulation of triglyceride metabolic process	IMP	32253259
GO:0090207	Process	Regulation of triglyceride metabolic process	ISS

MIM	HGNC	e!Ensembl
606048	15505	ENSG00000125505

Q96N66

Protein name

Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 (EC 2.3.1.-) (1-acylglycerophosphatidylinositol O-acyltransferase) (Bladder and breast carcinoma-overexpressed gene 1 protein) (Leukocyte receptor cluster member 4) (Lysophosphatidyli

Protein function

Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) leading to the production of a phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol

PDB

8ERC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03062	MBOAT	63 → 422	MBOAT, membrane-bound O-acyltransferase family	Family

Tissue specificity

TISSUE SPECIFICITY: Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. {ECO:0000269|PubMed:18772128}.

Sequence

MSPEEWTYLVVLLISIPIGFLFKKAGPGLKRWGAAAVGLGLTLFTCGPHTLHSLVTILGT
WALIQAQPCSCHALALAWTFSYLLFFRALSLLGLPTPTPFTNAVQLLLTLKLVSLASEVQ
DLHLAQRKEMASGFSKGPTLGLLPDVPSLMETLSYSYCYVGIMTGPFFRYRTYLDWLEQP
FPGAVPSLRPLLRRAWPAPLFGLLFLLSSHLFPLEAVREDAFYARPLPARLFYMIPVFFA
FRMRFYVAWIAAECGCIAAGFGAYPVAAKARAGGGPTLQCPPPSSPEKAASLEYDYETIR
NIDCYSTDFCVRVRDGMRYWNMTVQWWLAQYIYKSAPARSYVLRSAWTMLLSAYWHGLHP
GYYLSFLTIPLCLAAEGRLESALRGRLSPGGQKAWDWVHWFLKMRAYDYMCMGFVLLSLA
DTLRYWASIYFCIHFLALAALGLGLALGGGSPSRRKAASQPTSLAPEKLREE

Sequence length

472

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism		Acyl chain remodelling of PI

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic	rs2076453977	RCV001291093
Intellectual disability, autosomal recessive 57	Likely pathogenic; Pathogenic	rs1264222654, rs2076508722, rs868498080, rs2146989146, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs2515037913, rs2076013475, rs2076017638	RCV001449806 RCV001782418 RCV001795004 RCV001808107 RCV000258826 RCV000258838 RCV000258818 RCV000258829 RCV000258836 RCV003334371 RCV001250916 RCV001250919
MBOAT7-related disorder	Likely pathogenic	rs2515178934	RCV003964293
Neurodevelopmental abnormality	Pathogenic	rs2076013475	RCV005241246

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Uncertain significance	rs748238566	RCV005937562
Thymoma	Likely benign	rs112360756	RCV005912251

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Associate	26850495
Amblyopia	Associate	31282596
Anxiety	Associate	31282596
Anxiety Disorders	Associate	31282596
Ataxia	Associate	31282596, 34979703
Atherosclerosis	Inhibit	37424875
Atrophy	Associate	31282596
Attention Deficit Disorder with Hyperactivity	Associate	31282596, 40116760
Autism Spectrum Disorder	Associate	31282596, 40116760
Autistic Disorder	Associate	27616480, 31852446, 32645526, 34979703
Basal Ganglia Diseases	Associate	31282596
Brain Diseases	Associate	37316513, 40116760
Carcinoma Hepatocellular	Associate	28674415, 30912093, 32762045, 34823063, 34949757, 37684433, 40065199
Carcinoma Hepatocellular	Stimulate	37316513
Carcinoma Renal Cell	Associate	32180553
Chemical and Drug Induced Liver Injury	Associate	26850495, 28109005
COVID 19	Associate	36473860
COVID 19	Inhibit	38183501
Developmental Disabilities	Associate	31852446, 33513444, 34979703, 40116760
Diabetes Mellitus Type 2	Associate	37424875
Disease	Associate	34979703
Epilepsies Myoclonic	Associate	40116760
Epilepsy	Associate	27616480, 34979703, 40116760
Fat Necrosis	Associate	27836992, 32762045
Fatty Liver	Associate	29485130, 32645526, 33513444, 35620859, 35881683, 36473860, 36555467, 37316513
Fatty Liver Alcoholic	Associate	40065199
Fibrosis	Associate	26850495, 27630043, 27836992, 28109005, 30875804, 31815349, 32720691, 37424875, 37684433, 40650184
Hepatitis B	Associate	30116012
Hepatitis B Chronic	Associate	28109005
Hepatitis C Chronic	Associate	27630043, 28109005
Heredodegenerative Disorders Nervous System	Associate	31852446
Hyperphagia	Associate	31282596
Immunologic Deficiency Syndromes	Stimulate	34979703
Inflammation	Associate	27630043, 28109005, 36473860
Inflammation	Inhibit	38183501
Insulin Resistance	Associate	29485130
Intellectual Disability	Associate	27616480, 30959108, 31282596, 31852446, 32645526, 34979703, 36672789, 40116760
Liver Cirrhosis	Associate	27630043, 40650184
Liver Cirrhosis Alcoholic	Associate	26482880, 27630043, 30875804
Liver Diseases	Associate	30912093, 32443539, 32645526, 36371078, 37686209, 40650184
Liver Diseases Alcoholic	Associate	28109005, 29485130
Liver Failure	Associate	27836992
Megalencephaly	Associate	31282596
Mental Disorders	Associate	40116760
Metabolic Syndrome	Associate	34503513, 37424875
Metrorrhagia	Associate	31282596
Mitochondrial Diseases	Associate	36473860
Muscle Hypotonia	Associate	31282596, 34979703
Myocardial Infarction	Stimulate	35582424
Myoclonic Cerebellar Dyssynergia	Associate	34979703
Neoplasms	Associate	32180553, 40065199
Non alcoholic Fatty Liver Disease	Associate	26850495, 27836992, 28109005, 28674415, 29485130, 29487372, 30875804, 30959108, 33513444, 34155792, 34558842, 34823063, 35092912, 36166317, 37424875, 37684433, 40065199 View all (2 more)
Obesity	Associate	29485130, 37424875
Pena Shokeir syndrome type 1	Associate	31282596
Rhizomelic chondrodysplasia punctata type 2	Inhibit	32645526
Rhizomelic chondrodysplasia punctata type 2	Associate	32645526
Seizures	Associate	31282596, 31852446, 32645526, 40116760
Simpson Golabi Behmel syndrome	Associate	31282596
Stomach Neoplasms	Associate	30191681
Strabismus	Associate	31282596
Vaginal Discharge	Associate	40116760

MBOAT7 (membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7)