MBOAT7 - membrane bound O-acyltransferase domain containing 7 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79143

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
Molecular Function GO Annotation Evidence Verweise 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 Verweise 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 Verweise 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

MBOAT: MBOAT, membrane-bound O-acyltransferase family (100 - 418)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Cross
MBOAT7 Q96N66 Unc93b1 Mus musculus Q8VCW4 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

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
Others MBOAT7 NCBI