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MBOAT1 membrane bound O-acyltransferase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 154141, updated on 21-Dec-2019

Summary

Official Symbol
MBOAT1provided by HGNC
Official Full Name
membrane bound O-acyltransferase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:21579
See related
Ensembl:ENSG00000172197 MIM:611732
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LPLAT; LPSAT; OACT1; LPEAT1; LPLAT 1; dJ434O11.1
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]
Expression
Ubiquitous expression in colon (RPKM 8.3), small intestine (RPKM 8.1) and 24 other tissues See more
Orthologs

Genomic context

See MBOAT1 in Genome Data Viewer
Location:
6p22.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (20099684..20212469, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (20099915..20212695, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L29 pseudogene 17 Neighboring gene uncharacterized LOC105374965 Neighboring gene uncharacterized LOC101928573 Neighboring gene uncharacterized LOC107986576

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
NHGRI GWA Catalog
Genome-wide association study of proneness to anger.
NHGRI GWA Catalog
GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC44669

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transferase activity, transferring acyl groups IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
phosphatidylethanolamine acyl-chain remodeling TAS
Traceable Author Statement
more info
 
phosphatidylserine acyl-chain remodeling TAS
Traceable Author Statement
more info
 
phospholipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
lysophospholipid acyltransferase 1
Names
1-acylglycerophosphoserine O-acyltransferase
O-acyltransferase (membrane bound) domain containing 1
O-acyltransferase domain-containing protein 1
lyso-PS acyltransferase
lysophosphatidylethanolamine acyltransferase 1
lysophosphatidylserine acyltransferase
membrane-bound O-acyltransferase domain-containing protein 1
NP_001073949.1
XP_006715062.1
XP_006715063.1
XP_011512615.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001080480.3NP_001073949.1  lysophospholipid acyltransferase 1

    See identical proteins and their annotated locations for NP_001073949.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
    Source sequence(s)
    AK296857, AL008627, AL158198, BC150650, BM978819
    Consensus CDS
    CCDS34346.1
    UniProtKB/Swiss-Prot
    Q6ZNC8
    Related
    ENSP00000324944.7, ENST00000324607.8
    Conserved Domains (1) summary
    cl00738
    Location:22458
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

RNA

  1. NR_073465.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three exons compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK296857, AL008627, AL158198, BC150652, BM978819

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    20099684..20212469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714999.2XP_006715062.1  lysophospholipid acyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_006715062.1

    Conserved Domains (1) summary
    cl00738
    Location:2426
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  2. XM_011514313.3XP_011512615.1  lysophospholipid acyltransferase 1 isoform X3

    See identical proteins and their annotated locations for XP_011512615.1

    UniProtKB/Swiss-Prot
    Q6ZNC8
    Conserved Domains (1) summary
    cl00738
    Location:22240
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  3. XM_006715000.4XP_006715063.1  lysophospholipid acyltransferase 1 isoform X2

    Conserved Domains (1) summary
    cl00738
    Location:22235
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
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