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 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: 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
109	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
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?

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.
C-Cbl regulates c-MPL receptor trafficking and its internalization.
Title: C-Cbl regulates c-MPL receptor trafficking and its internalization.
Evolution of an Amniote-Specific Mechanism for Modulating Ubiquitin Signaling via Phosphoregulation of the E2 Enzyme UBE2D3.
Title: Evolution of an Amniote-Specific Mechanism for Modulating Ubiquitin Signaling via Phosphoregulation of the E2 Enzyme UBE2D3.
Cbl and Cbl-b control the germinal center reaction by facilitating naive B cell antigen processing.
Title: Cbl and Cbl-b control the germinal center reaction by facilitating naive B cell antigen processing.
C-CBL is required for inhibition of angiogenesis through modulating JAK2/STAT3 activity in ROP development.
Title: C-CBL is required for inhibition of angiogenesis through modulating JAK2/STAT3 activity in ROP development.
Cbl-PI3K interaction regulates Cathepsin K secretion in osteoclasts.
Title: Cbl-PI3K interaction regulates Cathepsin K secretion in osteoclasts.
This study demonstrates that combined partial loss of c-Cbl and inactivation of APC significantly contribute to colorectal cancer (CRC) tumorigenesis.
Title: Haploinsufficiency of Casitas B-Lineage Lymphoma Augments the Progression of Colon Cancer in the Background of Adenomatous Polyposis Coli Inactivation.
Data suggest that cell-specific E3 ubiquitin ligase c-Cbl (c-Cbl) expression builds cell specificity into the LYN proto-oncogene Src family tyrosine kinase tyrosine-protein kinase (LynA) checkpoint
Title: Unique-region phosphorylation targets LynA for rapid degradation, tuning its expression and signaling in myeloid cells.

Submit: New GeneRIF Correction See all GeneRIFs (101)

Variation

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Alleles

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

Gene trapped (1)
Targeted (12) 1 citation
Endonuclease-mediated (3)

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

Homology

Homologs of the Cbl gene: The Cbl gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 487 organisms have orthologs with human gene Cbl
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor 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	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	PubMed
involved_in negative regulation of neuron death	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphatidylinositol 3-kinase signaling	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	ISO Inferred from Sequence Orthology 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 regulation of signaling	IEA Inferred from Electronic Annotation more info
involved_in response to antibiotic	ISO Inferred from Sequence Orthology more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor 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	PubMed
located_in membrane raft	ISO Inferred from Sequence Orthology 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	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, Q8CEA1

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: Mus musculus Annotation Release 109 details...

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

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

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

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

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