MBOAT1 - membrane bound O-acyltransferase domain containing 1 Gene

Homo sapiens

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

Gene ID: 154141 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08193	MBOAT1 Human Pre-designed siRNA Set A		/	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

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