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

Gene ID: 154141, updated on 10-Dec-2024

Summary

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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; AllianceGenome:HGNC:21579
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; LPLAT14; 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
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Genomic context

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See MBOAT1 in Genome Data Viewer
Location:
6p22.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (20099684..20212469, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (19971772..20084669, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (20099915..20212700, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374965 Neighboring gene ribosomal protein L29 pseudogene 17 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:20092424-20092927 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:20127115-20127242 Neighboring gene NANOG hESC enhancer GRCh37_chr6:20188894-20189395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:20206230-20206981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:20213228-20213728 Neighboring gene uncharacterized LOC101928573 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:20266729-20267928 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:20291927-20292228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24127 Neighboring gene uncharacterized LOC124901272 Neighboring gene uncharacterized LOC124901482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16978 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:20402023-20402547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16979 Neighboring gene E2F transcription factor 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. MBOAT1 homozygous missense variant causes nonobstructive azoospermia. Wan YY, et al. Asian J Androl, 2022 Mar-Apr. PMID 34596601, Free PMC Article
  2. A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome. Dauwerse JG, et al. Eur J Hum Genet, 2007 Jul. PMID 17440500
  3. Lysophospholipid acyltransferases and arachidonate recycling in human neutrophils. Gijón MA, et al. J Biol Chem, 2008 Oct 31. PMID 18772128, Free PMC Article
  4. LPT1 encodes a membrane-bound O-acyltransferase involved in the acylation of lysophospholipids in the yeast Saccharomyces cerevisiae. Tamaki H, et al. J Biol Chem, 2007 Nov 23. PMID 17890783
  5. GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. Broer L, et al. J Gerontol A Biol Sci Med Sci, 2015 Jan. PMID 25199915, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MBOAT1 homozygous missense variant causes nonobstructive azoospermia.
    Title: MBOAT1 homozygous missense variant causes nonobstructive azoospermia.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC44669

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-acylglycerol-3-phosphate O-acyltransferase activity TAS
Traceable Author Statement
more info
  
enables 1-acylglycerophosphocholine O-acyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables 1-acylglycerophosphoethanolamine O-acyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables 1-acylglycerophosphoserine O-acyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables 2-acylglycerol-3-phosphate O-acyltransferase activity TAS
Traceable Author Statement
more info
  
enables acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in lipid modification IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylethanolamine acyl-chain remodeling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in phosphatidylethanolamine acyl-chain remodeling TAS
Traceable Author Statement
more info
  
involved_in phosphatidylserine acyl-chain remodeling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phosphatidylserine acyl-chain remodeling TAS
Traceable Author Statement
more info
  
involved_in phospholipid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
lysophospholipid acyltransferase 1
Names
1-acylglycerophosphocholine O-acyltransferase
1-acylglycerophosphoethanolamine O-acyltransferase
1-acylglycerophosphoserine O-acyltransferase
1-acylglycerophosphoserine O-acyltransferase MBOAT1
O-acyltransferase (membrane bound) domain containing 1
O-acyltransferase domain-containing protein 1
lyso-PS acyltransferase
lysophosphatidylethanolamine acyltransferase 1
lysophosphatidylserine acyltransferase
lysophospholipid acyltransferase 14
membrane-bound O-acyltransferase domain-containing protein 1
NP_001073949.1
XP_006715062.1
XP_006715063.1
XP_011512615.1
XP_054210328.1
XP_054210329.1
XP_054210330.1

NCBI Reference Sequences (RefSeq)

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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_001080480.3 → NP_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
    A9EDQ5, B4DL59, B4E3J4, Q6ZNC8, Q86XC2, Q8N9R5
    Related
    ENSP00000324944.7, ENST00000324607.8
    Conserved Domains (1) summary
    cl00738
    Location:22 → 458
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006714999.3 → XP_006715062.1  lysophospholipid acyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_006715062.1

    Conserved Domains (1) summary
    cl00738
    Location:2 → 426
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  2. XM_011514313.4 → XP_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:22 → 240
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  3. XM_006715000.5 → XP_006715063.1  lysophospholipid acyltransferase 1 isoform X2

    Conserved Domains (1) summary
    cl00738
    Location:22 → 235
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    19971772..20084669 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354353.1 → XP_054210328.1  lysophospholipid acyltransferase 1 isoform X1

  2. XM_054354354.1 → XP_054210329.1  lysophospholipid acyltransferase 1 isoform X2

  3. XM_054354355.1 → XP_054210330.1  lysophospholipid acyltransferase 1 isoform X3

RNA

  1. XR_008487264.1 RNA Sequence

  2. XR_008487262.1 RNA Sequence

  3. XR_008487263.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZNC8.1 GenPept UniProtKB/Swiss-Prot:Q6ZNC8

Gene LinkOut

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