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    Abhd12 abhydrolase domain containing 12 [ Mus musculus (house mouse) ]

    Gene ID: 76192, updated on 24-Apr-2022

    Summary

    Official Symbol
    Abhd12provided by MGI
    Official Full Name
    abhydrolase domain containing 12provided by MGI
    Primary source
    MGI:MGI:1923442
    See related
    Ensembl:ENSMUSG00000032046 AllianceGenome:MGI:1923442
    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
    AI431047; AW547313; 1500011G07Rik; 6330583M11Rik
    Summary
    Enables acylglycerol lipase activity; lysophospholipase activity; and palmitoyl-(protein) hydrolase activity. Involved in cellular lipid catabolic process; protein depalmitoylation; and regulation of inflammatory response. Acts upstream of or within adult walking behavior; phosphatidylserine catabolic process; and response to auditory stimulus. Located in dendrite cytoplasm and endoplasmic reticulum membrane. Is integral component of membrane. Part of AMPA glutamate receptor complex. Used to study PHARC syndrome. Human ortholog(s) of this gene implicated in PHARC syndrome. Orthologous to human ABHD12 (abhydrolase domain containing 12, lysophospholipase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in cortex adult (RPKM 64.9), bladder adult (RPKM 63.9) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Abhd12 in Genome Data Viewer
    Location:
    2; 2 G3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (150674413..150746705, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (150832493..150904779, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (150658251..150730467, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 30141 Neighboring gene uncharacterized LOC118568526 Neighboring gene brain glycogen phosphorylase Neighboring gene predicted gene, 23598 Neighboring gene predicted gene, 54124 Neighboring gene GINS complex subunit 1 (Psf1 homolog) Neighboring gene ribosomal protein L41 pseudogene Neighboring gene eukaryotic translation initiation factor 4E-binding protein 1 pseudogene

    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)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables acylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables acylglycerol lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables acylglycerol lipase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables lysophospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables lysophospholipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lysophospholipase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables lysophospholipase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables palmitoyl-(protein) hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables palmitoyl-(protein) hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in acylglycerol catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in acylglycerol catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within adult walking behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycerophospholipid catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoacylglycerol catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in monoacylglycerol catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in monoacylglycerol catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phosphatidylserine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within phosphatidylserine catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phosphatidylserine catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phospholipid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phospholipid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phospholipid catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein depalmitoylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to auditory stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    lysophosphatidylserine lipase ABHD12
    Names
    2-arachidonoylglycerol hydrolase ABHD12
    abhydrolase domain-containing protein 12
    monoacylglycerol lipase ABHD12
    oxidized phosphatidylserine lipase ABHD12
    NP_001343478.1
    NP_001343479.1
    NP_077785.2
    XP_006500428.2
    XP_006500430.1

    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_001356549.1NP_001343478.1  lysophosphatidylserine lipase ABHD12 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL808125, AL954712
      Conserved Domains (1) summary
      pfam12146
      Location:8215
      Hydrolase_4; Serine aminopeptidase, S33
    2. NM_001356550.1NP_001343479.1  lysophosphatidylserine lipase ABHD12 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL808125, AL954712
      Related
      ENSMUST00000156641.8
      Conserved Domains (1) summary
      pfam12146
      Location:1153
      Hydrolase_4; Serine aminopeptidase, S33
    3. NM_024465.3NP_077785.2  lysophosphatidylserine lipase ABHD12 isoform 1

      See identical proteins and their annotated locations for NP_077785.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL808125, AL954712
      Consensus CDS
      CCDS50742.1
      UniProtKB/Swiss-Prot
      Q99LR1
      Related
      ENSMUSP00000053558.9, ENSMUST00000056149.15
      Conserved Domains (1) summary
      pfam12146
      Location:165372
      Hydrolase_4; Serine aminopeptidase, S33

    RNA

    1. NR_151505.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL808125, AL954712
      Related
      ENSMUST00000141899.8

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      150674413..150746705 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500367.5XP_006500430.1  lysophosphatidylserine lipase ABHD12 isoform X1

      See identical proteins and their annotated locations for XP_006500430.1

      Conserved Domains (1) summary
      pfam12146
      Location:8215
      Hydrolase_4; Serine aminopeptidase, S33
    2. XM_006500365.5XP_006500428.2  lysophosphatidylserine lipase ABHD12 isoform X1

      Conserved Domains (1) summary
      pfam12146
      Location:8215
      Hydrolase_4; Serine aminopeptidase, S33