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    MBOAT7 membrane bound O-acyltransferase domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 79143, updated on 3-Dec-2024

    Summary

    Official Symbol
    MBOAT7provided by HGNC
    Official Full Name
    membrane bound O-acyltransferase domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:15505
    See related
    Ensembl:ENSG00000125505 MIM:606048; AllianceGenome:HGNC:15505
    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
    BB1; LRC4; LENG4; LPIAT; LPLAT; MBOA7; MRT57; OACT7; LPIAT1; LPLAT11; hMBOA-7
    Summary
    This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in testis (RPKM 19.3), adrenal (RPKM 15.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MBOAT7 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54173415..54189580, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57253615..57269968, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54677109..54693431, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CCR4-NOT transcription complex subunit 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54662792-54663461 Neighboring gene leukocyte receptor cluster member 1 Neighboring gene transmembrane channel like 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54676977-54677793 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54677794-54678609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54683683-54684198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54684199-54684714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54684715-54685229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54687509-54688008 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54692762-54693444 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54693445-54694126 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:54695049-54695250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54696095-54696610 Neighboring gene tRNA splicing endonuclease subunit 34 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54704113-54704783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54709694-54710202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54710710-54711217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54711218-54711724 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:54711820-54712003 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:54712450-54712625 Neighboring gene ribosomal protein S9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54720754-54721590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54721591-54722426 Neighboring gene uncharacterized LOC124904768 Neighboring gene leukocyte immunoglobulin like receptor B3

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, autosomal recessive 57
    MedGen: C4310673 OMIM: 617188 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    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

    • FLJ41296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables 2-acylglycerol-3-phosphate O-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables O-acyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables O-acyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables lysophospholipid acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lysophospholipid acyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    lysophospholipid acyltransferase 7
    Names
    1-acylglycerophosphatidylinositol O-acyltransferase
    LPLAT 7
    bladder and breast carcinoma-overexpressed gene 1 protein
    h-mboa-7
    leukocyte receptor cluster (LRC) member 4
    lyso-PI acyltransferase
    lysophosphatidylinositol acyltransferase
    lysophosphatidylinositol acyltransferase 1
    lysophospholipid acyltransferase 11
    malignant cell expression-enhanced gene/tumor progression-enhanced
    NP_001139528.1
    NP_001139554.1
    NP_001139555.1
    NP_077274.3
    XP_011525601.1
    XP_011525602.1
    XP_054178092.1
    XP_054178093.1
    XP_054185677.1
    XP_054185678.1
    XP_054186179.1
    XP_054186475.1
    XP_054186725.1
    XP_054186956.1
    XP_054187239.1
    XP_054187508.1
    XP_054187509.1
    XP_054189553.1
    XP_054189655.1

    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.

    Genomic

    1. NG_033045.2 RefSeqGene

      Range
      5296..21461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146056.3NP_001139528.1  lysophospholipid acyltransferase 7 isoform 2

      See identical proteins and their annotated locations for NP_001139528.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AI032483, AK298689, BQ045276, DA338950
      Consensus CDS
      CCDS54315.1
      UniProtKB/Swiss-Prot
      Q96N66
      Related
      ENSP00000344377.5, ENST00000338624.10
      Conserved Domains (1) summary
      cl00738
      Location:55361
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    2. NM_001146082.3NP_001139554.1  lysophospholipid acyltransferase 7 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding region, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC245052, AK055908, BC003164, CB240899, DA338950
      Consensus CDS
      CCDS54316.1
      UniProtKB/Swiss-Prot
      Q96N66
      Related
      ENSP00000375634.1, ENST00000391754.5
      Conserved Domains (1) summary
      cl00738
      Location:2333
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    3. NM_001146083.3NP_001139555.1  lysophospholipid acyltransferase 7 isoform 2

      See identical proteins and their annotated locations for NP_001139555.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AI032483, BC015857, BQ045276, DA338950
      Consensus CDS
      CCDS54315.1
      UniProtKB/Swiss-Prot
      Q96N66
      Related
      ENSP00000410503.2, ENST00000431666.6
      Conserved Domains (1) summary
      cl00738
      Location:55361
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    4. NM_024298.5NP_077274.3  lysophospholipid acyltransferase 7 isoform 1

      See identical proteins and their annotated locations for NP_077274.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI032483, AK055908, BC003164, BQ045276, DA338950
      Consensus CDS
      CCDS12883.1
      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8
      Related
      ENSP00000245615.1, ENST00000245615.6
      Conserved Domains (1) summary
      cl00738
      Location:2431
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54173415..54189580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527299.4XP_011525601.1  lysophospholipid acyltransferase 7 isoform X1

      See identical proteins and their annotated locations for XP_011525601.1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8
      Conserved Domains (1) summary
      cl00738
      Location:2431
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    2. XM_011527300.3XP_011525602.1  lysophospholipid acyltransferase 7 isoform X1

      See identical proteins and their annotated locations for XP_011525602.1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8
      Conserved Domains (1) summary
      cl00738
      Location:2431
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      148187..164377 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329702.1XP_054185677.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8
    2. XM_054329703.1XP_054185678.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      148223..164545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330204.1XP_054186179.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      148223..164545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330500.1XP_054186475.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      148223..164545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330750.1XP_054186725.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      148223..164545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330981.1XP_054186956.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      148223..164545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331264.1XP_054187239.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      148193..164544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331533.1XP_054187508.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8
    2. XM_054331534.1XP_054187509.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      148223..164545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333578.1XP_054189553.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      148223..164545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333680.1XP_054189655.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57253615..57269968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322118.1XP_054178093.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8
    2. XM_054322117.1XP_054178092.1  lysophospholipid acyltransferase 7 isoform X1

      UniProtKB/Swiss-Prot
      A9C4B6, B0V3I5, B4DQ87, Q05DF0, Q7L5N2, Q96N66, Q99908, Q9BPV2, Q9BRE9
      UniProtKB/TrEMBL
      B4DDH8