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

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