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    AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 10555, updated on 8-Jul-2021

    Summary

    Official Symbol
    AGPAT2provided by HGNC
    Official Full Name
    1-acylglycerol-3-phosphate O-acyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:325
    See related
    Ensembl:ENSG00000169692 MIM:603100
    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
    BSCL; BSCL1; LPAAB; 1-AGPAT2; LPAAT-beta
    Summary
    This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in fat (RPKM 221.4), small intestine (RPKM 55.9) and 8 other tissues See more
    Orthologs
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    Genomic context

    See AGPAT2 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (136673143..136687457, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139567595..139581909, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724193 Neighboring gene uncharacterized LOC101928612 Neighboring gene EGF like domain multiple 7 Neighboring gene microRNA 126 Neighboring gene divergent protein kinase domain 1B Neighboring gene small nucleolar RNA, H/ACA box 17B Neighboring gene small nucleolar RNA host gene 7

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    1-acyl-sn-glycerol-3-phosphate acyltransferase beta
    Names
    1-AGP acyltransferase 2
    1-AGPAT 2
    1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
    lysophosphatidic acid acyltransferase-beta
    testicular tissue protein Li 143
    NP_001012745.1
    NP_006403.2

    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.

    Genomic

    1. NG_008090.1 RefSeqGene

      Range
      5003..19317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001012727.2NP_001012745.1  1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b precursor

      See identical proteins and their annotated locations for NP_001012745.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b).
      Source sequence(s)
      AL590226, BC000026, BC004529, BF347518, CN407343
      Consensus CDS
      CCDS35181.1
      UniProtKB/Swiss-Prot
      O15120
      UniProtKB/TrEMBL
      A0A024R8F9
      Related
      ENSP00000360759.3, ENST00000371694.7
      Conserved Domains (2) summary
      cd07989
      Location:67217
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
      COG0204
      Location:26221
      PlsC; 1-acyl-sn-glycerol-3-phosphate acyltransferase [Lipid transport and metabolism]
    2. NM_006412.4NP_006403.2  1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform a precursor

      See identical proteins and their annotated locations for NP_006403.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF000237, AL590226, BC000026, BF347518
      Consensus CDS
      CCDS7003.1
      UniProtKB/Swiss-Prot
      O15120
      UniProtKB/TrEMBL
      A0A024R8I7
      Related
      ENSP00000360761.2, ENST00000371696.7
      Conserved Domains (1) summary
      cd07989
      Location:67249
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      136673143..136687457 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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