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    Aven apoptosis, caspase activation inhibitor [ Mus musculus (house mouse) ]

    Gene ID: 74268, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Avenprovided by MGI
    Official Full Name
    apoptosis, caspase activation inhibitorprovided by MGI
    Primary source
    MGI:MGI:1921518
    See related
    Ensembl:ENSMUSG00000003604 AllianceGenome:MGI:1921518
    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
    mAven-L; mAven-S; 1700013A01Rik; 1700056A21Rik
    Summary
    Predicted to be involved in negative regulation of G2/M transition of mitotic cell cycle and negative regulation of apoptotic process. Predicted to act upstream of or within apoptotic process. Predicted to be located in membrane. Is expressed in several structures, including testis. Orthologous to human AVEN (apoptosis and caspase activation inhibitor). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 40.7), liver E14 (RPKM 4.4) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 E3; 2 57.04 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (112323231..112461598)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (112492883..112631253)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr2:112219168-112219469 Neighboring gene STARR-positive B cell enhancer ABC_E5959 Neighboring gene katanin p80 subunit B like 1 Neighboring gene STARR-positive B cell enhancer ABC_E3389 Neighboring gene STARR-positive B cell enhancer ABC_E11150 Neighboring gene STARR-positive B cell enhancer ABC_E4487 Neighboring gene STARR-seq mESC enhancer starr_05388 Neighboring gene ER membrane protein complex subunit 7 Neighboring gene predicted gene, 22676 Neighboring gene cholinergic receptor, muscarinic 5 Neighboring gene STARR-positive B cell enhancer mm9_chr2:112443695-112443995 Neighboring gene STARR-seq mESC enhancer starr_05389 Neighboring gene STARR-seq mESC enhancer starr_05390 Neighboring gene ryanodine receptor 3 Neighboring gene STARR-seq mESC enhancer starr_05392 Neighboring gene STARR-seq mESC enhancer starr_05393 Neighboring gene STARR-seq mESC enhancer starr_05394 Neighboring gene STARR-seq mESC enhancer starr_05395 Neighboring gene predicted gene, 26505 Neighboring gene transmembrane and coiled-coil domains 5B

    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
    • 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. A recombinant MnSOD is radioprotective for normal cells and radiosensitizing for tumor cells. Borrelli A, et al. Free Radic Biol Med, 2009 Jan 1. PMID 18996183
    2. Expression of the mouse Aven gene during spermatogenesis, analyzed by subtraction screening using Mvh-knockout mice. Ina S, et al. Gene Expr Patterns, 2003 Oct. PMID 12971998
    3. Aven, a novel inhibitor of caspase activation, binds Bcl-xL and Apaf-1. Chau BN, et al. Mol Cell, 2000 Jul. PMID 10949025
    4. Mammalian small nucleolar RNAs are mobile genetic elements. Weber MJ. PLoS Genet, 2006 Dec 8. PMID 17154719, Free PMC Article
    5. Maternal UHRF1 Is Essential for Transcription Landscapes and Repression of Repetitive Elements During the Maternal-to-Zygotic Transition. Wu Y, et al. Front Cell Dev Biol, 2020. PMID 33634103, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of apoptotic repressor AVEN exacerbates cardiac injury after myocardial infarction.
      Title: Downregulation of apoptotic repressor AVEN exacerbates cardiac injury after myocardial infarction.
    2. activated in irradiated tissues protected from radiodamage by treatment with recombinant superoxide dismutase (MnSOD)
      Title: A recombinant MnSOD is radioprotective for normal cells and radiosensitizing for tumor cells.
    3. One of the cDNA clones obtained by selective PCR subtraction cloning matched two cDNA sequences in the mouse testis cDNA database, and was highly homologous to Aven, a human gene regulating cell death.
      Title: Expression of the mouse Aven gene during spermatogenesis, analyzed by subtraction screening using Mvh-knockout mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC124011

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of G2/M transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cell death regulator Aven

    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_001165935.1 → NP_001159407.1  cell death regulator Aven isoform 2

      See identical proteins and their annotated locations for NP_001159407.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BE651622, BE995326, DV646415
      Consensus CDS
      CCDS50660.1
      UniProtKB/TrEMBL
      A2AGL5
      Related
      ENSMUSP00000097184.4, ENSMUST00000099588.4

    2. NM_001355630.1 → NP_001342559.1  cell death regulator Aven 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) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AL691423

    3. NM_001355631.1 → NP_001342560.1  cell death regulator Aven isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK005934, AL691423

    4. NM_028844.4 → NP_083120.2  cell death regulator Aven isoform 1

      See identical proteins and their annotated locations for NP_083120.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL691423, AL731840
      Consensus CDS
      CCDS16557.1
      UniProtKB/Swiss-Prot
      A2AGL4, Q9D9K3
      UniProtKB/TrEMBL
      Q496R6
      Related
      ENSMUSP00000003705.6, ENSMUST00000003705.12

    RNA

    1. NR_149741.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate 5' end 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)
      AL691423

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      112323231..112461598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001783190.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D9K3.2 GenPept UniProtKB/Swiss-Prot:Q9D9K3

    Gene LinkOut

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

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