MBOAT7 - membrane bound O-acyltransferase domain containing 7 Gene

Homo sapiens

Also known as BB1; LRC4; LENG4; LPIAT; LPLAT; MBOA7; MRT57; OACT7; LPIAT1; LPLAT11; hMBOA-7

Gene ID: 79143 | Gene type: protein coding

About MBOAT7

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:54,173,415-54,189,580 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 185 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 19.3), adrenal (RPKM 15.7) and 25 other tissues.

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 acyl donor. This protein is involved in the reacylation of Phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

MBOAT7 Products(4)

mRNA	Protein	Name
NM_001146056.3	NP_001139528.1	lysophospholipid acyltransferase 7 isoform 2
NM_001146082.3	NP_001139554.1	lysophospholipid acyltransferase 7 isoform 3
NM_001146083.3	NP_001139555.1	lysophospholipid acyltransferase 7 isoform 2
NM_024298.5	NP_077274.3	lysophospholipid acyltransferase 7 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables O-acyltransferase activity	IDA IDA: Inferred from direct assay	18772128	GOA
enables O-acyltransferase activity	IMP IMP: Inferred from mutant phenotype	18094042	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21903422	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in phosphatidylcholine acyl-chain remodeling	IDA IDA: Inferred from direct assay	18772128	GOA
involved in phosphatidylinositol acyl-chain remodeling	IDA IDA: Inferred from direct assay	18772128	GOA
involved in phosphatidylinositol acyl-chain remodeling	IMP IMP: Inferred from mutant phenotype	32253259	GOA
involved in phosphatidylinositol biosynthetic process	IMP IMP: Inferred from mutant phenotype	18094042	GOA
involved in regulation of triglyceride metabolic process	IMP IMP: Inferred from mutant phenotype	32253259	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	30959108	GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site	IDA IDA: Inferred from direct assay	23510452	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MBOAT7 Protein Structure

MBOAT

0
100
200
300
400
472 a.a.

Protein Preferred Names

Protein Names

lysophospholipid acyltransferase 7

1-acylglycerophosphatidylinositol O-acyltransferase

MBOAT7 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	MBOAT7	Q96N66	Unc93b1	Mus musculus	Q8VCW4	Anti Tag CoIP	21903422

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 57

MRT57

Autosomal Recessive Intellectual Developmental Disorder 57

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Fatty Liver Disease

Alcoholic Fatty Liver	Fatty Liver
Fatty Liver, Alcoholic	Fatty Change Of Liver
Hepatic Lipidosis	Steatosis Of Liver
Fatty Liver Alcoholic	Steatohepatitis
Etoh Fatty Liver	Etoh Fatty Liver Metamorphosis
Fatty Etoh Liver Necrosis

Non-Alcoholic Steatohepatitis

Nonalcoholic Steatohepatitis	Nash
Nash - [Non-Alcoholic Steatohepatitis]	Non-Alcoholic Steatohepatosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08195	MBOAT7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MBOAT7	RGD	RGD:1306945
Mus musculus	MBOAT7	MGD	MGI:1924832
Felis catus	MBOAT7	VGNC	VGNC:63406
Canis familiaris	MBOAT7	VGNC	VGNC:43062
Bos taurus	MBOAT7	VGNC	VGNC:31289

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