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

Gene ID: 12402, updated on 5-Mar-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 and ephrin receptor binding activity. Involved in regulation of platelet-derived growth factor receptor-alpha signaling pathway. Acts upstream of or within regulation of Rap protein signal transduction. Located in Golgi apparatus and cilium. Part of flotillin complex. Is expressed in male reproductive system and urinary system. Human ortholog(s) of this gene implicated in acute myeloid leukemia; juvenile myelomonocytic leukemia; lung non-small cell carcinoma; and myeloid neoplasm. Orthologous to human CBL (Cbl proto-oncogene). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thymus adult (RPKM 39.9), testis adult (RPKM 11.0) and 23 other tissues See more
Orthologs
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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

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)
  • Gene trapped (1) 
  • Targeted (12)  1 citation
  • Endonuclease-mediated (5) 

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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 metal ion 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 ISO
Inferred from Sequence Orthology
more info
 
enables receptor tyrosine kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
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
 
enables ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cell surface receptor signaling pathway 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 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-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
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 protein autoubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in protein monoubiquitination ISO
Inferred from Sequence Orthology
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 
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 regulation of signaling 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
 
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 cell projection IEA
Inferred from Electronic Annotation
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 cytoplasm IEA
Inferred from Electronic Annotation
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 
colocalizes_with focal adhesion ISO
Inferred from Sequence Orthology
more info
 
located_in growth cone ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane raft IBA
Inferred from Biological aspect of Ancestor
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)

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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_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