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    Elapor1 endosome-lysosome associated apoptosis and autophagy regulator 1 [ Mus musculus (house mouse) ]

    Gene ID: 229722, updated on 9-Dec-2024

    Summary

    Official Symbol
    Elapor1provided by MGI
    Official Full Name
    endosome-lysosome associated apoptosis and autophagy regulator 1provided by MGI
    Primary source
    MGI:MGI:1923930
    See related
    Ensembl:ENSMUSG00000040412 AllianceGenome:MGI:1923930
    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
    Iir; Inceptor; 5330417C22Rik
    Summary
    Predicted to be involved in autophagosome assembly; cellular response to starvation; and positive regulation of autophagosome assembly. Predicted to be located in Golgi apparatus; bounding membrane of organelle; and endoplasmic reticulum membrane. Predicted to be active in plasma membrane. Predicted to colocalize with late endosome; lysosome; and trans-Golgi network. Orthologous to human ELAPOR1 (endosome-lysosome associated apoptosis and autophagy regulator 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 38.0), colon adult (RPKM 28.0) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Elapor1 in Genome Data Viewer
    Location:
    3 F3; 3 47.14 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (108362995..108444064, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (108455679..108536745, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene cadherin, EGF LAG seven-pass G-type receptor 2 Neighboring gene predicted gene, 52630 Neighboring gene STARR-seq mESC enhancer starr_08687 Neighboring gene seryl-tRNA synthetase 1 Neighboring gene STARR-positive B cell enhancer mm9_chr3:108248013-108248314 Neighboring gene STARR-seq mESC enhancer starr_08688 Neighboring gene predicted gene, 22942 Neighboring gene predicted gene, 23336 Neighboring gene STARR-seq mESC enhancer starr_08689 Neighboring gene STARR-positive B cell enhancer ABC_E4574 Neighboring gene cilia and flagella associated protein 276 Neighboring gene small Cajal body-specific RNA 2

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (5)  1 citation

    General gene information

    Markers

    Clone Names

    • KIAA1324

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in autophagosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to starvation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of autophagosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of vacuole organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of vacuole organization ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    endosome/lysosome-associated apoptosis and autophagy regulator 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_001033304.2NP_001028476.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 2

      See identical proteins and their annotated locations for NP_001028476.1

      Status: VALIDATED

      Source sequence(s)
      AK139330, AL672200, AL683823, BP763374
      Consensus CDS
      CCDS17761.1
      UniProtKB/Swiss-Prot
      A2AFS2, A2AFS3, Q3UTM2, Q69ZL9, Q7TS96, Q8R215
      Related
      ENSMUSP00000040128.7, ENSMUST00000048012.13
      Conserved Domains (2) summary
      pfam07562
      Location:279315
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cl22855
      Location:163295
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    2. NM_001346518.1NP_001333447.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672200, AL683823, BP763374
      Consensus CDS
      CCDS84664.1
      UniProtKB/Swiss-Prot
      A2AFS2, A2AFS3, Q3UTM2, Q69ZL9, Q7TS96, Q8R215
      UniProtKB/TrEMBL
      A0A0A0MQC6
      Related
      ENSMUSP00000102236.4, ENSMUST00000106625.10
    3. NM_001358063.1NP_001344992.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672200, AL683823, BP763374
      UniProtKB/Swiss-Prot
      A2AFS2, A2AFS3, Q3UTM2, Q69ZL9, Q7TS96, Q8R215
      Conserved Domains (1) summary
      cl22855
      Location:265397
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    4. NM_001358064.1NP_001344993.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672200, AL683823, BP763374
      UniProtKB/Swiss-Prot
      A2AFS2, A2AFS3, Q3UTM2, Q69ZL9, Q7TS96, Q8R215
      Conserved Domains (1) summary
      cl22855
      Location:265397
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    5. NM_001358065.1NP_001344994.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672200, AL683823, BP763374
      UniProtKB/Swiss-Prot
      A2AFS2, A2AFS3, Q3UTM2, Q69ZL9, Q7TS96, Q8R215
      Conserved Domains (1) summary
      cl22855
      Location:163295
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      108362995..108444064 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252595.2XP_030108455.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X2

      UniProtKB/Swiss-Prot
      A2AFS2, A2AFS3, Q3UTM2, Q69ZL9, Q7TS96, Q8R215
      Conserved Domains (3) summary
      cd00185
      Location:193228
      TNFRSF; CRD2 [structural motif]
      pfam07562
      Location:279315
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cl22855
      Location:163295
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    2. XM_006501415.4XP_006501478.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X1

      See identical proteins and their annotated locations for XP_006501478.1

      UniProtKB/Swiss-Prot
      A2AFS2, A2AFS3, Q3UTM2, Q69ZL9, Q7TS96, Q8R215
      Conserved Domains (2) summary
      pfam07562
      Location:279315
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cl22855
      Location:163295
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    3. XM_006501414.5XP_006501477.1  endosome/lysosome-associated apoptosis and autophagy regulator 1 isoform X1

      See identical proteins and their annotated locations for XP_006501477.1

      UniProtKB/Swiss-Prot
      A2AFS2, A2AFS3, Q3UTM2, Q69ZL9, Q7TS96, Q8R215
      Conserved Domains (2) summary
      pfam07562
      Location:279315
      NCD3G; Nine Cysteines Domain of family 3 GPCR
      cl22855
      Location:163295
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    RNA

    1. XR_004941314.1 RNA Sequence