MBOAT1 - membrane bound O-acyltransferase domain containing 1 Gene

Also Known as LPLAT; LPSAT; OACT1; LPEAT1; LPLAT 1; LPLAT14; dJ434O11.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 154141

About MBOAT1

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:20,099,684-20,212,469 (from NCBI)

This gene has 1 transcript (splice variant), 198 orthologues and 5 paralogues. Ubiquitous expression in colon (RPKM 8.3), small intestine (RPKM 8.1) and 24 other tissues.

Summary

This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

MBOAT1 Products (1)

mRNA Protein Name
NM_001080480.3 NP_001073949.1 lysophospholipid acyltransferase 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables 1-acylglycerophosphoserine O-acyltransferase activity IMP
IMP: Inferred from mutant phenotype
18772128 GOA
Biological Process GO Annotation Evidence References Source
involved in phosphatidylserine acyl-chain remodeling IDA
IDA: Inferred from direct assay
18772128 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

MBOAT1 Protein Structure

MBOAT

MBOAT: MBOAT, membrane-bound O-acyltransferase family (124 - 423)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 495 a.a.
Protein Preferred Names Protein Names

lysophospholipid acyltransferase 1

  • 1-acylglycerophosphocholine O-acyltransferase

Related Diseases

Diseases Alias
Brachydactyly-Syndactyly Syndrome

  • BDSD

  • Brachydactyly-Syndactyly-Oligodactyly Syndrome

  • Brachydactyly-Syndactyly, Zhao Type

  • BDSDO
Brachydactyly
Congenital Generalized Lipodystrophy

  • Berardinelli-Seip Congenital Lipodystrophy

  • Berardinelli-Seip Syndrome

  • Brunzell Syndrome

  • Bscl

  • Generalized Lipodystrophy

  • Lipodystrophy, Congenital Generalized

  • Seip Syndrome

  • Total Lipodystrophy

  • Cgl

  • Lipoatrophic Diabetes

  • Lipodystrophy, Generalized, Congenital

  • Familial Generalized Lipodystrophy

  • Congenital Generalized Lipodystrophy Type 2

  • Lipoatrophic Diabetes Mellitus

  • Familial Partial Lipodystrophy, Type 2
Autosomal Recessive Intellectual Developmental Disorder

  • Mental Retardation, Autosomal Recessive

  • Autosomal Recessive Mental Retardation

  • Autosomal Recessive Non-Syndromic Mental Retardation

  • Autosomal Recessive Non-Syndromic Intellectual Disability
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08193 MBOAT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus MBOAT1 VGNC VGNC:31286
Rattus norvegicus MBOAT1 RGD RGD:1565561
Felis catus MBOAT1 VGNC VGNC:63403
Macaca mulatta MBOAT1 VGNC VGNC:74553
Canis familiaris MBOAT1 VGNC VGNC:43060
Mus musculus MBOAT1 MGD MGI:2387184
Others MBOAT1 NCBI