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

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, Nov 2024]
Expression: Broad expression in thymus adult (RPKM 39.9), testis adult (RPKM 11.0) and 23 other tissues See more
Orthologs: human all
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Genomic context

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BLNK negatively regulates innate antifungal immunity through inhibiting c-Cbl-mediated macrophage migration.
Title: BLNK negatively regulates innate antifungal immunity through inhibiting c-Cbl-mediated macrophage migration.
Deficiency of CBL and CBLB ubiquitin ligases leads to hyper T follicular helper cell responses and lupus by reducing BCL6 degradation.
Title: Deficiency of CBL and CBLB ubiquitin ligases leads to hyper T follicular helper cell responses and lupus by reducing BCL6 degradation.
c-Cbl induced podocin ubiquitination contributes to the podocytes injury in diabetic nephropathy.
Title: c-Cbl induced podocin ubiquitination contributes to the podocytes injury in diabetic nephropathy.
The ubiquitin ligases Cbl and Cbl-b regulate macrophage growth by controlling CSF-1R import into macropinosomes.
Title: The ubiquitin ligases Cbl and Cbl-b regulate macrophage growth by controlling CSF-1R import into macropinosomes.
PRL2 Phosphatase Promotes Oncogenic KIT Signaling in Leukemia Cells through Modulating CBL Phosphorylation.
Title: PRL2 Phosphatase Promotes Oncogenic KIT Signaling in Leukemia Cells through Modulating CBL Phosphorylation.
Mettl13 protects against cardiac contractile dysfunction by negatively regulating C-Cbl-mediated ubiquitination of SERCA2a in ischemic heart failure.
Title: Mettl13 protects against cardiac contractile dysfunction by negatively regulating C-Cbl-mediated ubiquitination of SERCA2a in ischemic heart failure.
c-Cbl Regulates Murine Subventricular Zone-Derived Neural Progenitor Cells in Dependence of the Epidermal Growth Factor Receptor.
Title: c-Cbl Regulates Murine Subventricular Zone-Derived Neural Progenitor Cells in Dependence of the Epidermal Growth Factor Receptor.
CBL/CAP Is Essential for Mitochondria Respiration Complex I Assembly and Bioenergetics Efficiency in Muscle Cells.
Title: CBL/CAP Is Essential for Mitochondria Respiration Complex I Assembly and Bioenergetics Efficiency in Muscle Cells.
E3 ligase c-Cbl regulates intestinal inflammation through suppressing fungi-induced noncanonical NF-kappaB activation.
Title: E3 ligase c-Cbl regulates intestinal inflammation through suppressing fungi-induced noncanonical NF-κB activation.
Ubiquitin Ligases CBL and CBL-B Maintain the Homeostasis and Immune Quiescence of Dendritic Cells.
Title: Ubiquitin Ligases CBL and CBL-B Maintain the Homeostasis and Immune Quiescence of Dendritic Cells.

Submit: New GeneRIF Correction See all GeneRIFs (108)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236108

Cbl (e-PCR), detects polymorphism
- UniSTS:506781

RH126978 (e-PCR)
- UniSTS:167609

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

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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

EC 2.3.2.27

XP_006510026.1

EC 2.3.2.27

XP_017168604.1

EC 2.3.2.27

XP_030099893.1

EC 2.3.2.27

XP_036010476.1

EC 2.3.2.27

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)

NM_007619.2 → NP_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:254 → 350

SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain

cd00162
Location:379 → 421

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:864 → 903

UBA_c-Cbl; UBA domain found in E3 ubiquitin-protein ligase Cbl and similar proteins

pfam02262
Location:52 → 173

Cbl_N; CBL proto-oncogene N-terminal domain 1

pfam02761
Location:177 → 260

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

44054273..44145556 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A0X1KG61, Q2M4H7

Related

ENSMUSP00000041902.8, ENSMUST00000037644.8

Conserved Domains (6) summary

cd09920
Location:254 → 350

SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain

PHA03247
Location:509 → 805

PHA03247; large tegument protein UL36; Provisional

cd14393
Location:820 → 859

UBA_c-Cbl; UBA domain found in E3 ubiquitin-protein ligase Cbl and similar proteins

cd16709
Location:360 → 425

RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

pfam02262
Location:52 → 170

Cbl_N; CBL proto-oncogene N-terminal domain 1

pfam02761
Location:177 → 260

Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
XM_036154583.1 → XP_036010476.1 E3 ubiquitin-protein ligase CBL isoform X2

UniProtKB/TrEMBL

Q2M4H7

Conserved Domains (6) summary

cd09920
Location:254 → 350

SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain

PHA03247
Location:478 → 802

PHA03247; large tegument protein UL36; Provisional

cd14393
Location:804 → 843

UBA_c-Cbl; UBA domain found in E3 ubiquitin-protein ligase Cbl and similar proteins

cd16709
Location:360 → 425

RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

pfam02262
Location:52 → 170

Cbl_N; CBL proto-oncogene N-terminal domain 1

pfam02761
Location:177 → 260

Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
XM_030244033.2 → XP_030099893.1 E3 ubiquitin-protein ligase CBL isoform X4

UniProtKB/TrEMBL

Q2M4H7

Conserved Domains (5) summary

cd09920
Location:96 → 192

SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain

PHA03247
Location:320 → 691

PHA03247; large tegument protein UL36; Provisional

cd14393
Location:706 → 745

UBA_c-Cbl; UBA domain found in E3 ubiquitin-protein ligase Cbl and similar proteins

cd16709
Location:202 → 267

RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

pfam02761
Location:19 → 102

Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
XM_017313115.3 → XP_017168604.1 E3 ubiquitin-protein ligase CBL isoform X3

UniProtKB/TrEMBL

Q2M4H7

Conserved Domains (6) summary

cd09920
Location:151 → 247

SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain

PHA03247
Location:375 → 746

PHA03247; large tegument protein UL36; Provisional

cd14393
Location:761 → 800

UBA_c-Cbl; UBA domain found in E3 ubiquitin-protein ligase Cbl and similar proteins

cd16709
Location:257 → 322

RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

pfam02262
Location:1 → 67

Cbl_N; CBL proto-oncogene N-terminal domain 1

pfam02761
Location:74 → 157

Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain