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    Abhd5 abhydrolase domain containing 5 [ Mus musculus (house mouse) ]

    Gene ID: 67469, updated on 9-Dec-2024

    Summary

    Official Symbol
    Abhd5provided by MGI
    Official Full Name
    abhydrolase domain containing 5provided by MGI
    Primary source
    MGI:MGI:1914719
    See related
    Ensembl:ENSMUSG00000032540 AllianceGenome:MGI:1914719
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    IECN5; NCIE2; CGI-58; 1300003D03Rik; 2010002J10Rik
    Summary
    Enables lipase activator activity. Involved in negative regulation of sequestering of triglyceride and positive regulation of triglyceride catabolic process. Located in cytosol and lipid droplet. Is expressed in central nervous system; dorsal root ganglion; heart; retina; and skin. Used to study Chanarin-Dorfman syndrome. Human ortholog(s) of this gene implicated in Chanarin-Dorfman syndrome; autosomal recessive congenital ichthyosis 1; and colon adenocarcinoma. Orthologous to human ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 60.2), liver E18 (RPKM 34.9) and 23 other tissues See more
    Orthologs
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    Genomic context

    See Abhd5 in Genome Data Viewer
    Location:
    9 F4; 9 73.03 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (122180681..122210589)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (122351616..122381524)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35289 Neighboring gene STARR-seq mESC enhancer starr_25547 Neighboring gene predicted gene, 35398 Neighboring gene STARR-seq mESC enhancer starr_25548 Neighboring gene RIKEN cDNA A730085K08 gene Neighboring gene STARR-seq mESC enhancer starr_25549 Neighboring gene STARR-seq mESC enhancer starr_25550 Neighboring gene predicted gene, 35454

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (5)  1 citation

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in cell differentiation  
    involved_in fatty acid metabolic process  
    involved_in lipid homeostasis  
    acts_upstream_of_or_within lipid metabolic process PubMed 
    involved_in negative regulation of sequestering of triglyceride  
    involved_in negative regulation of sequestering of triglyceride PubMed 
    involved_in negative regulation of sequestering of triglyceride  
    involved_in phosphatidic acid biosynthetic process  
    involved_in phosphatidic acid biosynthetic process  
    involved_in phosphatidic acid biosynthetic process  
    involved_in positive regulation of lipid catabolic process PubMed 
    involved_in positive regulation of triglyceride catabolic process  
    involved_in positive regulation of triglyceride catabolic process PubMed 
    involved_in positive regulation of triglyceride catabolic process  
    Component Evidence Code Pubs
    located_in cytosol PubMed 
    located_in cytosol  
    located_in cytosol  
    located_in intracellular membrane-bounded organelle  
    is_active_in lipid droplet  
    located_in lipid droplet PubMed 
    located_in lipid droplet  
    located_in lipid droplet  
    is_active_in mitochondrion  
    located_in nucleoplasm  
    located_in nucleoplasm  

    General protein information

    Preferred Names
    1-acylglycerol-3-phosphate O-acyltransferase ABHD5
    Names
    abhydrolase domain-containing protein 5
    lipid droplet-binding protein CGI-58
    NP_001346136.1
    NP_080455.1
    XP_030100386.1

    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_001359207.1NP_001346136.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC108846
      Consensus CDS
      CCDS90688.1
      Related
      ENSMUSP00000107123.4, ENSMUST00000111497.5
      Conserved Domains (1) summary
      PLN02894
      Location:19194
      PLN02894; hydrolase, alpha/beta fold family protein
    2. NM_026179.2NP_080455.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform 1

      See identical proteins and their annotated locations for NP_080455.1

      Status: VALIDATED

      Source sequence(s)
      AK004873, AK050377, CN840045
      Consensus CDS
      CCDS23646.1
      UniProtKB/Swiss-Prot
      Q9CTY3, Q9DBL9
      Related
      ENSMUSP00000122274.2, ENSMUST00000156520.8
      Conserved Domains (1) summary
      PLN02894
      Location:3347
      PLN02894; hydrolase, alpha/beta fold family protein

    RNA

    1. NR_152865.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC108846

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      122180681..122210589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244526.2XP_030100386.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform X1

      Conserved Domains (1) summary
      PLN02894
      Location:53304
      PLN02894; hydrolase, alpha/beta fold family protein
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