CBLB (gene)

CBL-B is an E3 ubiquitin-protein ligase that in humans is encoded by the CBLB gene.^[5][6] CBLB is a member of the CBL gene family.

CBLB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2AK5, 2BZ8, 2DO6, 2J6F, 2JNH, 2LDR, 2OOA, 2OOB, 3PFV, 3VGO, 3ZNI
Identifiers
Aliases	CBLB, Cbl-b, RNF56, Nbla00127, Cbl proto-oncogene B
External IDs	OMIM: 604491; MGI: 2146430; HomoloGene: 15856; GeneCards: CBLB; OMA:CBLB - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q13.11 Start 105,655,461 bp[1] End 105,869,552 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 B5 Start 51,851,588 bp[2] End 52,028,411 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pericardium epithelium of colon Achilles tendon tail of epididymis saphenous vein gastric mucosa tibia decidua tibial nerve visceral pleura Top expressed in hand genital tubercle tail of embryo umbilical cord cumulus cell renal corpuscle lymph node blood left lung lobe mesenteric lymph nodes More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding phosphotyrosine residue binding metal ion binding protein binding ubiquitin-protein transferase activity transferase activity SH3 domain binding receptor tyrosine kinase binding ubiquitin protein ligase activity zinc ion binding Cellular component nucleoplasm cytoplasm cytosol plasma membrane membrane raft nucleus Biological process regulation of signaling cell surface receptor signaling pathway protein ubiquitination NLS-bearing protein import into nucleus signal transduction proteolysis epidermal growth factor receptor signaling pathway negative regulation of epidermal growth factor-activated receptor activity regulation of platelet-derived growth factor receptor-alpha signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 868 208650 Ensembl ENSG00000114423 ENSMUSG00000022637 UniProt Q13191 Q3TTA7 RefSeq (mRNA) NM_170662 NM_001321786 NM_001321788 NM_001321789 NM_001321790 NM_001321791 NM_001321793 NM_001321794 NM_001321795 NM_001321796 NM_001321797 NM_001321798 NM_001321799 NM_001321806 NM_001321807 NM_001321808 NM_001321811 NM_001321813 NM_001321816 NM_001321820 NM_001321822 NM_004351 NM_001033238 RefSeq (protein) NP_001308715 NP_001308717 NP_001308718 NP_001308719 NP_001308720 NP_001308722 NP_001308723 NP_001308724 NP_001308725 NP_001308726 NP_001308727 NP_001308728 NP_001308735 NP_001308736 NP_001308737 NP_001308740 NP_001308742 NP_001308745 NP_001308749 NP_001308751 NP_733762 NP_001028410 Location (UCSC) Chr 3: 105.66 – 105.87 Mb Chr 16: 51.85 – 52.03 Mb PubMed search [3] [4]
Wikidata
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Function

CBL-B functions as a negative regulator of T-cell activation.^[7] CBL-B expression in T cells causes ligand-induced T cell receptor down-modulation, controlling the activation degree of T cells during antigen presentation.^[8][9]

Clinical significance

Mutation of the CBLB gene has been associated with autoimmune conditions such as type 1 diabetes.^[10][11]

Interactions

CBLB has been shown to interact with:

• CRKL,^[12]
• Epidermal growth factor receptor,^[13][14]
• Grb2,^[12][15]
• NEDD4,^[16]
• PIK3R1,^[12][15] and
• SH3KBP1.^[17]