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

Summary

Official Symbol: Cblcprovided by MGI
Official Full Name: Casitas B-lineage lymphoma cprovided by MGI
Primary source: MGI:MGI:1931457
See related: Ensembl:ENSMUSG00000040525 AllianceGenome:MGI:1931457
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: Cbl3; 2310076I21Rik; 2310079L19Rik
Summary: Predicted to enable several functions, including SH3 domain binding activity; phosphotyrosine residue binding activity; and signaling receptor binding activity. Predicted to be involved in cellular protein metabolic process; negative regulation of protein kinase activity; and signal transduction. Predicted to be part of ubiquitin ligase complex. Predicted to be active in membrane raft and plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; lung; and sensory organ. Orthologous to human CBLC (Cbl proto-oncogene C). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in colon adult (RPKM 57.9), duodenum adult (RPKM 51.4) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 9.94 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (19513643..19530734, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (19779718..19796809, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

We identified a novel cDNA that was isolated from a mouse mammary cancer from the C3(1) Large T Antigen transgenic model. This mutant cDNA encodes a protein that has a deletion in the RF domain of Cbl-c, thereby resembling known Cbl family mutations associated with myeoloid neoplasias.
Title: Loss of function Cbl-c mutations in solid tumors.
only the SH3 domains of CD2AP are necessary to enhance the E3 ligase activity of Cbl-3/c toward Ret51
Title: CD2-associated protein (CD2AP) enhances casitas B lineage lymphoma-3/c (Cbl-3/c)-mediated Ret isoform-specific ubiquitination and degradation via its amino-terminal Src homology 3 domains.
MMTV-CBLC transgenic mice show abnormal mammary gland development
Title: Abnormal mammary gland development in MMTV-CBLC transgenic mouse.
c-Cbl deficiency did not affect Fc epsilon RI-induced histamine release or total cellular protein phosphorylation. Its absence increased ERK phosphorylation after receptor stimulation, but resulted in reduced p38 phosphorylation & Ca(2+) response.
Title: Inactivation of c-Cbl or Cbl-b differentially affects signaling from the high affinity IgE receptor.
Accumulation of c-Cbl and rapid termination of colony-stimulating factor 1 receptor signaling in interferon consensus sequence binding protein-deficient bone marrow-derived macrophages
Title: Accumulation of c-Cbl and rapid termination of colony-stimulating factor 1 receptor signaling in interferon consensus sequence binding protein-deficient bone marrow-derived macrophages.
Results describe the detailed expression pattern of murine Cbl-3 and report the generation and characterization of Cbl-3-deficient mice.
Title: Cbl-3-deficient mice exhibit normal epithelial development.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables epidermal growth factor receptor binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphotyrosine residue binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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	ISO Inferred from Sequence Orthology more info	PubMed
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 MAP kinase activity	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
involved_in negative regulation of epidermal growth factor-activated receptor activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in regulation of signaling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to glial cell derived neurotrophic factor	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in membrane raft	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase CBL-C

Names: CBL-3; RING-type E3 ubiquitin transferase CBL-C; SH3-binding protein CBL-3; SH3-binding protein CBL-C; signal transduction protein CBL-C

NP_001155316.1

EC 2.3.2.27

NP_075713.3

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_001161844.1 → NP_001155316.1 E3 ubiquitin-protein ligase CBL-C isoform 2

See identical proteins and their annotated locations for NP_001155316.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AC149282

Consensus CDS

CCDS52064.1

UniProtKB/TrEMBL

G3X9U0, Q2TA94

Related

ENSMUSP00000104088.3, ENSMUST00000108449.9

Conserved Domains (3) summary

cd09920
Location:225 → 321

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

pfam02262
Location:16 → 144

Cbl_N; CBL proto-oncogene N-terminal domain 1

pfam02761
Location:148 → 231

Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain
NM_023224.5 → NP_075713.3 E3 ubiquitin-protein ligase CBL-C isoform 1

See identical proteins and their annotated locations for NP_075713.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK010228, BE198430, BQ031029

Consensus CDS

CCDS39804.1

UniProtKB/Swiss-Prot

Q80XL1, Q99PB6, Q9D6L2, Q9D7A9

UniProtKB/TrEMBL

Q2TA94

Related

ENSMUSP00000039955.8, ENSMUST00000043822.8

Conserved Domains (4) summary

cd09920
Location:225 → 321

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

cd00162
Location:350 → 392

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 ...

pfam02262
Location:16 → 144

Cbl_N; CBL proto-oncogene N-terminal domain 1

pfam02761
Location:148 → 231

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