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

    Gene ID: 154141, updated on 27-Nov-2024

    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; 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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC44669

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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
      A9EDQ5, B4DL59, B4E3J4, Q6ZNC8, Q86XC2, Q8N9R5
      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: 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_006714999.3XP_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_011514313.4XP_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_006715000.5XP_006715063.1  lysophospholipid acyltransferase 1 isoform X2

      Conserved Domains (1) summary
      cl00738
      Location:22235
      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_054354353.1XP_054210328.1  lysophospholipid acyltransferase 1 isoform X1

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

    3. XM_054354355.1XP_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