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    Cbl Casitas B-lineage lymphoma [ Mus musculus (house mouse) ]

    Gene ID: 12402, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cblprovided by MGI
    Official Full Name
    Casitas B-lineage lymphomaprovided by MGI
    Primary source
    MGI:MGI:88279
    See related
    Ensembl:ENSMUSG00000034342 AllianceGenome:MGI:88279
    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
    cbl; Cbl-2; c-Cbl; 4732447J05Rik
    Summary
    Enables SH3 domain binding activity; ephrin receptor binding activity; and ubiquitin protein ligase activity. Involved in several processes, including regulation of signal transduction; ubiquitin-dependent endocytosis; and ubiquitin-dependent protein catabolic process. Acts upstream of or within regulation of Rap protein signal transduction. Located in Golgi apparatus and cilium. Part of flotillin complex. Is active in plasma membrane. Is expressed in central nervous system; male reproductive system; and urinary system. Human ortholog(s) of this gene implicated in acute myeloid leukemia; congestive heart failure; juvenile myelomonocytic leukemia; lung non-small cell carcinoma; and myeloid neoplasm. Orthologous to human CBL (Cbl proto-oncogene). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in thymus adult (RPKM 39.9), testis adult (RPKM 11.0) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cbl in Genome Data Viewer
    Location:
    9 A5.1- A5.2; 9 24.72 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (44054273..44145556, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (44142976..44234259, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_23955 Neighboring gene predicted gene 10687 Neighboring gene STARR-seq mESC enhancer starr_23959 Neighboring gene melanoma cell adhesion molecule Neighboring gene STARR-positive B cell enhancer ABC_E5062 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:44046702-44046855 Neighboring gene coiled-coil domain containing 153 Neighboring gene NHERF family PDZ scaffold protein 4

    Genomic regions, transcripts, and products

    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 (5) 
    • Gene trapped (1) 
    • Targeted (12)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ephrin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ephrin receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol 3-kinase regulatory subunit binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol 3-kinase regulatory subunit binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphotyrosine residue binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein tyrosine kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein tyrosine kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables receptor tyrosine kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ubiquitin protein ligase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin protein ligase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone resorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell surface receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to nerve growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to platelet-derived growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of epidermal growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of epidermal growth factor receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of epidermal growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of epidermal growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of receptor-mediated endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of receptor-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein autoubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein autoubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein monoubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein monoubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein polyubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of Rap protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of platelet-derived growth factor receptor-alpha signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ubiquitin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent endocytosis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of flotillin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase CBL
    Names
    RING-type E3 ubiquitin transferase CBL
    casitas B-lineage lymphoma proto-oncogene
    proto-oncogene c-CBL
    signal transduction protein CBL
    NP_031645.2
    XP_006510026.1
    XP_017168604.1
    XP_030099893.1
    XP_036010476.1

    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_007619.2NP_031645.2  E3 ubiquitin-protein ligase CBL

      See identical proteins and their annotated locations for NP_031645.2

      Status: VALIDATED

      Source sequence(s)
      AC148328, AK029826, AK085140
      Consensus CDS
      CCDS40598.1
      UniProtKB/Swiss-Prot
      P22682, Q3U527, Q8CEA1
      UniProtKB/TrEMBL
      Q2M4H7
      Related
      ENSMUSP00000146244.2, ENSMUST00000206720.2
      Conserved Domains (5) summary
      cd09920
      Location:254350
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:379421
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14393
      Location:864903
      UBA_c-Cbl; UBA domain found in E3 ubiquitin-protein ligase Cbl and similar proteins
      pfam02262
      Location:52173
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:177260
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      44054273..44145556 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509963.4XP_006510026.1  E3 ubiquitin-protein ligase CBL isoform X1

      UniProtKB/TrEMBL
      A0A0X1KG61, Q2M4H7
      Related
      ENSMUSP00000041902.8, ENSMUST00000037644.8
      Conserved Domains (6) summary
      cd09920
      Location:254350
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      PHA03247
      Location:509805
      PHA03247; large tegument protein UL36; Provisional
      cd14393
      Location:820859
      UBA_c-Cbl; UBA domain found in E3 ubiquitin-protein ligase Cbl and similar proteins
      cd16709
      Location:360425
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:52170
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:177260
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
    2. XM_036154583.1XP_036010476.1  E3 ubiquitin-protein ligase CBL isoform X2

      UniProtKB/TrEMBL
      Q2M4H7
      Conserved Domains (6) summary
      cd09920
      Location:254350
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      PHA03247
      Location:478802
      PHA03247; large tegument protein UL36; Provisional
      cd14393
      Location:804843
      UBA_c-Cbl; UBA domain found in E3 ubiquitin-protein ligase Cbl and similar proteins
      cd16709
      Location:360425
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:52170
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:177260
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
    3. XM_030244033.2XP_030099893.1  E3 ubiquitin-protein ligase CBL isoform X4

      UniProtKB/TrEMBL
      Q2M4H7
      Conserved Domains (5) summary
      cd09920
      Location:96192
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      PHA03247
      Location:320691
      PHA03247; large tegument protein UL36; Provisional
      cd14393
      Location:706745
      UBA_c-Cbl; UBA domain found in E3 ubiquitin-protein ligase Cbl and similar proteins
      cd16709
      Location:202267
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02761
      Location:19102
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
    4. XM_017313115.3XP_017168604.1  E3 ubiquitin-protein ligase CBL isoform X3

      UniProtKB/TrEMBL
      Q2M4H7
      Conserved Domains (6) summary
      cd09920
      Location:151247
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      PHA03247
      Location:375746
      PHA03247; large tegument protein UL36; Provisional
      cd14393
      Location:761800
      UBA_c-Cbl; UBA domain found in E3 ubiquitin-protein ligase Cbl and similar proteins
      cd16709
      Location:257322
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:167
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:74157
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain