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    Rubcn RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein [ Mus musculus (house mouse) ]

    Gene ID: 100502698, updated on 27-Nov-2024

    Summary

    Official Symbol
    Rubcnprovided by MGI
    Official Full Name
    RUN domain and cysteine-rich domain containing, Beclin 1-interacting proteinprovided by MGI
    Primary source
    MGI:MGI:1915160
    See related
    Ensembl:ENSMUSG00000035629 AllianceGenome:MGI:1915160
    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
    Rubicon; mKIAA0226; 5330403K09; 1700021K19Rik
    Summary
    Predicted to enable phosphatidylinositol phosphate binding activity. Predicted to be involved in negative regulation of autophagosome maturation; negative regulation of endocytosis; and negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in early endosome and late endosome. Is expressed in central nervous system and retina. Used to study systemic lupus erythematosus. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 15. Orthologous to human RUBCN (rubicon autophagy regulator). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen adult (RPKM 22.1), testis adult (RPKM 17.2) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Rubcn in Genome Data Viewer
    Location:
    16 B3; 16 23.38 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (32642072..32698121, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (32821702..32877729, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene mucin 4 Neighboring gene STARR-seq mESC enhancer starr_40675 Neighboring gene mucin 20 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:32813070-32813253 Neighboring gene STARR-seq mESC enhancer starr_40677 Neighboring gene STARR-seq mESC enhancer starr_40678 Neighboring gene somatomedin B domain containing 1 Neighboring gene VISTA enhancer mm1352 Neighboring gene STARR-positive B cell enhancer mm9_chr16:32877901-32878201 Neighboring gene forty-two-three domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E9930 Neighboring gene STARR-positive B cell enhancer ABC_E8627 Neighboring gene STARR-positive B cell enhancer ABC_E4167 Neighboring gene leucine-rich repeats and calponin homology (CH) domain containing 3 Neighboring gene predicted gene 6611 Neighboring gene nuclear encoded rRNA 5S 33

    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 (4) 
    • Targeted (3)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0226, MGC76451, MGC79154

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables phosphatidylinositol 3-kinase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    run domain Beclin-1-interacting and cysteine-rich domain-containing protein
    Names
    run domain Beclin-1 interacting and cystein-rich containing protein
    run domain Beclin-1 interacting and cysteine-rich containing protein

    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_001200038.1NP_001186967.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform a

      See identical proteins and their annotated locations for NP_001186967.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC139244, BC060601, BC067390, BP758360
      Consensus CDS
      CCDS49832.1
      UniProtKB/Swiss-Prot
      Q3TAX3, Q3TD96, Q3TDF7, Q3TDU2, Q6NWW8, Q6P9T7, Q6PG18, Q80U62, Q8BMP7, Q8BY22
      Related
      ENSMUSP00000087114.4, ENSMUST00000089684.10
      Conserved Domains (2) summary
      smart00593
      Location:123183
      RUN; domain involved in Ras-like GTPase signaling
      pfam13901
      Location:721921
      zf-RING_9; Putative zinc-RING and/or ribbon
    2. NM_001374776.1NP_001361705.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform c

      Status: VALIDATED

      Source sequence(s)
      AC139244
      Consensus CDS
      CCDS88917.1
      UniProtKB/TrEMBL
      D3Z7B1
      Related
      ENSMUSP00000113087.2, ENSMUST00000119810.2
      Conserved Domains (3) summary
      smart00593
      Location:62122
      RUN; domain involved in Ras-like GTPase signaling
      pfam13901
      Location:646842
      zf-RING_9; Putative zinc-RING and/or ribbon
      pfam15728
      Location:120243
      DUF4679; Domain of unknown function (DUF4679)
    3. NM_172615.4NP_766203.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform b

      See identical proteins and their annotated locations for NP_766203.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AC139244, AK030368, BC067390, BP758360
      Consensus CDS
      CCDS28124.1
      UniProtKB/Swiss-Prot
      Q80U62
      Related
      ENSMUSP00000048811.9, ENSMUST00000040986.15
      Conserved Domains (2) summary
      smart00593
      Location:123183
      RUN; domain involved in Ras-like GTPase signaling
      pfam13901
      Location:706906
      zf-RING_9; Putative zinc-RING and/or ribbon

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      32642072..32698121 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030248897.2XP_030104757.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X8

      Conserved Domains (3) summary
      smart00593
      Location:62122
      RUN; domain involved in Ras-like GTPase signaling
      pfam13901
      Location:661857
      zf-RING_9; Putative zinc-RING and/or ribbon
      pfam15728
      Location:120243
      DUF4679; Domain of unknown function (DUF4679)
    2. XM_036159704.1XP_036015597.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X7

      Conserved Domains (3) summary
      smart00593
      Location:62122
      RUN; domain involved in Ras-like GTPase signaling
      pfam05109
      Location:137347
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13901
      Location:671867
      zf-RING_9; Putative zinc-RING and/or ribbon
    3. XM_006521655.5XP_006521718.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X6

      Conserved Domains (3) summary
      smart00593
      Location:62122
      RUN; domain involved in Ras-like GTPase signaling
      pfam13901
      Location:686882
      zf-RING_9; Putative zinc-RING and/or ribbon
      pfam15728
      Location:120243
      DUF4679; Domain of unknown function (DUF4679)
    4. XM_006521653.5XP_006521716.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X2

      Conserved Domains (3) summary
      smart00593
      Location:123183
      RUN; domain involved in Ras-like GTPase signaling
      pfam13901
      Location:732928
      zf-RING_9; Putative zinc-RING and/or ribbon
      pfam15728
      Location:181304
      DUF4679; Domain of unknown function (DUF4679)
    5. XM_006521652.5XP_006521715.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X1

      Conserved Domains (4) summary
      smart00593
      Location:123183
      RUN; domain involved in Ras-like GTPase signaling
      pfam05956
      Location:204426
      APC_basic; APC basic domain
      pfam13901
      Location:747943
      zf-RING_9; Putative zinc-RING and/or ribbon
      pfam15728
      Location:181304
      DUF4679; Domain of unknown function (DUF4679)
    6. XM_036159702.1XP_036015595.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X3

      Conserved Domains (3) summary
      smart00593
      Location:106166
      RUN; domain involved in Ras-like GTPase signaling
      pfam05109
      Location:181391
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13901
      Location:730926
      zf-RING_9; Putative zinc-RING and/or ribbon
    7. XM_036159703.1XP_036015596.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X4

      Conserved Domains (3) summary
      smart00593
      Location:106166
      RUN; domain involved in Ras-like GTPase signaling
      pfam05109
      Location:181391
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13901
      Location:715911
      zf-RING_9; Putative zinc-RING and/or ribbon
    8. XM_030248896.2XP_030104756.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X5

      Conserved Domains (3) summary
      smart00593
      Location:106166
      RUN; domain involved in Ras-like GTPase signaling
      pfam13901
      Location:690886
      zf-RING_9; Putative zinc-RING and/or ribbon
      pfam15728
      Location:164287
      DUF4679; Domain of unknown function (DUF4679)
    9. XM_036159705.1XP_036015598.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X9

      Conserved Domains (1) summary
      pfam13901
      Location:274470
      zf-RING_9; Putative zinc-RING and/or ribbon
    10. XM_036159706.1XP_036015599.1  run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X10

      Conserved Domains (2) summary
      smart00593
      Location:123183
      RUN; domain involved in Ras-like GTPase signaling
      pfam05109
      Location:198408
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    RNA

    1. XR_004939139.1 RNA Sequence