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    Abhd11 abhydrolase domain containing 11 [ Mus musculus (house mouse) ]

    Gene ID: 68758, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Abhd11provided by MGI
    Official Full Name
    abhydrolase domain containing 11provided by MGI
    Primary source
    MGI:MGI:1916008
    See related
    Ensembl:ENSMUSG00000040532 AllianceGenome:MGI:1916008
    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
    Wbscr21; 1110054D16Rik; A630008N09Rik
    Summary
    Predicted to enable lipase activity. Predicted to be involved in cellular lipid metabolic process. Located in mitochondrion. Is expressed in alimentary system; ganglia; nasal septum; and submandibular gland primordium. Orthologous to human ABHD11 (abhydrolase domain containing 11). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in large intestine adult (RPKM 44.7), colon adult (RPKM 41.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Abhd11 in Genome Data Viewer
    Location:
    5 G2; 5 74.94 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (135038006..135041029)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (135009152..135012175)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene Williams Beuren syndrome chromosome region 25 (human) Neighboring gene predicted gene, 57747 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:135484761-135484944 Neighboring gene ribosomal protein S29, pseudogene Neighboring gene abhydrolase domain containing 11, opposite strand Neighboring gene syntaxin 1A (brain) Neighboring gene predicted gene, 25492 Neighboring gene BUD23, rRNA methyltransferase and ribosome maturation factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. ABHD11, a new diacylglycerol lipase involved in weight gain regulation. Escoubet J, et al. PLoS One, 2020. PMID 32579589, Free PMC Article
    2. Effects of rosiglitazone and high fat diet on lipase/esterase expression in adipose tissue. Shen WJ, et al. Biochim Biophys Acta, 2007 Feb. PMID 17215164, Free PMC Article
    3. Striatal long noncoding RNA Abhd11os is neuroprotective against an N-terminal fragment of mutant huntingtin in vivo. Francelle L, et al. Neurobiol Aging, 2015 Mar. PMID 25619660
    4. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Merla G, et al. Hum Genet, 2002 May. PMID 12073013
    5. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. DeSilva U, et al. Genome Res, 2002 Jan. PMID 11779826, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ABHD11, a new diacylglycerol lipase involved in weight gain regulation.
      Title: ABHD11, a new diacylglycerol lipase involved in weight gain regulation.
    2. loss lncRNA Abhd11os likely contribute to striatal vulnerability in HD and lncRNA may play crucial roles in neurodegenerative diseases.
      Title: Striatal long noncoding RNA Abhd11os is neuroprotective against an N-terminal fragment of mutant huntingtin in vivo.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables carboxylic ester hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of oxoglutarate dehydrogenase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of oxoglutarate dehydrogenase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    sn-1-specific diacylglycerol lipase ABHD11
    Names
    Williams Beuren syndrome chromosome region 21
    Williams-Beuren syndrome chromosomal region 21 protein homolog
    Williams-Beuren syndrome critical region 21
    abhydrolase domain-containing protein 11
    alpha/beta hydrolase domain-containing protein 11
    protein ABHD11
    NP_001177366.1
    NP_660250.1
    XP_006504555.1

    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.

    mRNA and Protein(s)

    1. NM_001190437.1 → NP_001177366.1  sn-1-specific diacylglycerol lipase ABHD11 isoform 2

      See identical proteins and their annotated locations for NP_001177366.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon and uses a downstream start codon, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC084109
      Consensus CDS
      CCDS51659.1
      UniProtKB/TrEMBL
      D3YYK0
      Related
      ENSMUSP00000106847.2, ENSMUST00000111216.8
      Conserved Domains (2) summary
      pfam00561
      Location:3 → 215
      Abhydrolase_1; alpha/beta hydrolase fold
      pfam12695
      Location:6 → 116
      Abhydrolase_5; Alpha/beta hydrolase family

    2. NM_145215.2 → NP_660250.1  sn-1-specific diacylglycerol lipase ABHD11 isoform 1

      See identical proteins and their annotated locations for NP_660250.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC084109
      Consensus CDS
      CCDS19730.1
      UniProtKB/Swiss-Prot
      Q8K4F5
      Related
      ENSMUSP00000043041.9, ENSMUST00000046999.12
      Conserved Domains (2) summary
      PRK10673
      Location:61 → 307
      PRK10673; acyl-CoA esterase; Provisional
      pfam12695
      Location:60 → 196
      Abhydrolase_5; Alpha/beta hydrolase family

    RNA

    1. NR_033794.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC084109

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      135038006..135041029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006504492.4 → XP_006504555.1  sn-1-specific diacylglycerol lipase ABHD11 isoform X1

      Conserved Domains (1) summary
      PRK10673
      Location:61 → 267
      PRK10673; esterase

    RNA

    1. XR_003955705.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K4F5.1 GenPept UniProtKB/Swiss-Prot:Q8K4F5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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