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    ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase [ Homo sapiens (human) ]

    Gene ID: 51099, updated on 4-Jul-2021

    Summary

    Official Symbol
    ABHD5provided by HGNC
    Official Full Name
    abhydrolase domain containing 5, lysophosphatidic acid acyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:21396
    See related
    Ensembl:ENSG00000011198 MIM:604780
    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
    CGI58; IECN2; NCIE2
    Summary
    The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 12.2), bone marrow (RPKM 10.6) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ABHD5 in Genome Data Viewer
    Location:
    3p21.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (43690870..43734371)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (43732362..43775863)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene anoctamin 10 Neighboring gene ribosomal protein L18a pseudogene Neighboring gene tubulin alpha pseudogene 3 Neighboring gene uncharacterized LOC105377054 Neighboring gene uncharacterized LOC107986081

    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

    Clone Names

    • MGC8731

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables carboxylic ester hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables lysophosphatidic acid acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables lysophosphatidic acid acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables triglyceride lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lipid droplet ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    1-acylglycerol-3-phosphate O-acyltransferase ABHD5
    Names
    abhydrolase domain-containing protein 5
    lipid droplet-binding protein CGI-58
    truncated abhydrolase domain-containing protein 5
    NP_001342115.1
    NP_001352578.1
    NP_001352579.1
    NP_057090.2

    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_007090.5 RefSeqGene

      Range
      5069..36856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1174

    mRNA and Protein(s)

    1. NM_001355186.2NP_001342115.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variant 1, encodes the longest isoform (a).
      Source sequence(s)
      AC105903, BG721387, BU622105
      Consensus CDS
      CCDS2711.1
      Related
      ENSP00000497701.1, ENST00000649763.1
      Conserved Domains (1) summary
      cl26327
      Location:1345
      Abhydrolase_1; alpha/beta hydrolase fold
    2. NM_001365649.1NP_001352578.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC105903
      Related
      ENSP00000494478.1, ENST00000642351.1
      Conserved Domains (1) summary
      cl26327
      Location:53304
      Abhydrolase_1; alpha/beta hydrolase fold
    3. NM_001365650.1NP_001352579.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC105903
      Related
      ENSP00000390849.3, ENST00000458276.7
      Conserved Domains (1) summary
      cl26327
      Location:1251
      Abhydrolase_1; alpha/beta hydrolase fold
    4. NM_016006.6NP_057090.2  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a

      See identical proteins and their annotated locations for NP_057090.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC105903, AF007132, BC021958, BG721387
      Consensus CDS
      CCDS2711.1
      UniProtKB/Swiss-Prot
      Q8WTS1
      UniProtKB/TrEMBL
      A0A0S2Z5D6
      Related
      ENSP00000495778.1, ENST00000644371.2
      Conserved Domains (1) summary
      cl26327
      Location:1345
      Abhydrolase_1; alpha/beta hydrolase fold

    RNA

    1. NR_158560.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC105903

    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_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      43690870..43734371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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