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Aliases for CBLB Gene

Aliases for CBLB Gene

  • Cbl Proto-Oncogene B, E3 Ubiquitin Protein Ligase 2 3
  • Cas-Br-M (Murine) Ecotropic Retroviral Transforming Sequence B 2 3
  • Cas-Br-M (Murine) Ectropic Retroviral Transforming Sequence B 2 3
  • Casitas B-Lineage Lymphoma Proto-Oncogene B 3 4
  • Signal Transduction Protein CBL-B 3 4
  • SH3-Binding Protein CBL-B 3 4
  • RING Finger Protein 56 3 4
  • RNF56 3 4
  • Cbl Proto-Oncogene, E3 Ubiquitin Protein Ligase B 3
  • E3 Ubiquitin-Protein Ligase CBL-B 3
  • EC 6.3.2.- 4
  • Nbla00127 3
  • EC 6.3.2 63
  • Cbl-B 3

External Ids for CBLB Gene

Previous GeneCards Identifiers for CBLB Gene

  • GC03M102013
  • GC03M104895
  • GC03M106658
  • GC03M106698
  • GC03M106859
  • GC03M105374
  • GC03M102751

Summaries for CBLB Gene

GeneCards Summary for CBLB Gene

CBLB (Cbl Proto-Oncogene B, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with CBLB include cannabis dependence. Among its related pathways are Proteoglycans in cancer and Downstream Signaling Events Of B Cell Receptor (BCR). GO annotations related to this gene include calcium ion binding and signal transducer activity. An important paralog of this gene is CBLC.

UniProtKB/Swiss-Prot for CBLB Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B-cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production. Also acts by promoting PIK3R1/p85 ubiquitination, which impairs its recruitment to the TCR and subsequent activation. In activated T-cells, inhibits PLCG1 activation and calcium mobilization upon restimulation and promotes anergy. In B-cells, acts by ubiquitinating SYK and promoting its proteasomal degradation. Slightly promotes SRC ubiquitination. May be involved in EGFR ubiquitination and internalization. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3.

Gene Wiki entry for CBLB Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBLB Gene

Genomics for CBLB Gene

Regulatory Elements for CBLB Gene

Genomic Location for CBLB Gene

Start:
105,655,461 bp from pter
End:
105,869,552 bp from pter
Size:
214,092 bases
Orientation:
Minus strand

Genomic View for CBLB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CBLB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBLB Gene

Proteins for CBLB Gene

  • Protein details for CBLB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13191-CBLB_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase CBL-B
    Protein Accession:
    Q13191
    Secondary Accessions:
    • A8K9S7
    • B7WNM4
    • Q13192
    • Q13193
    • Q3LIC0
    • Q63Z43
    • Q8IVC5

    Protein attributes for CBLB Gene

    Size:
    982 amino acids
    Molecular mass:
    109450 Da
    Quaternary structure:
    • Interacts with SH3 domain-containing proteins LCK, CRK and SORBS1. Interacts with LCP2 and ZAP70. May interact with CBL. Interacts with SH3 domain-containing proteins VAV1, FYN, FGR, PLCG1, GRB2, CRKL, PIK3R1 and SH3KBP1/CIN85. Identified in heterotrimeric complexes with SH3KBP1/CIN85, CD2AP and ARHGEF7, where one CBLB peptide binds two copies of the other protein. Interacts with poly-ubiquitinated proteins. Dimerization is required for the binding of poly-ubiquitin, but not for the binding of mono-ubiquitin. Interacts with EGFR (phosphorylated).
    Miscellaneous:
    • This protein has one functional calcium-binding site.
    SequenceCaution:
    • Sequence=BAE45748.1; Type=Erroneous termination; Positions=904; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=CAH56175.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CBLB Gene

    Alternative splice isoforms for CBLB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBLB Gene

Proteomics data for CBLB Gene at MOPED

Post-translational modifications for CBLB Gene

  • Auto-ubiquitinated upon EGF-mediated cell activation or upon T-cell costimulation by CD28; which promotes proteasomal degradation.
  • Phosphorylated on tyrosine and serine residues upon TCR or BCR activation, and upon various types of cell stimulation.
  • Ubiquitination at Lys97 and Lys516
  • Modification sites at PhosphoSitePlus

Other Protein References for CBLB Gene

Domains for CBLB Gene

Gene Families for CBLB Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

Graphical View of Domain Structure for InterPro Entry

Q13191

UniProtKB/Swiss-Prot:

CBLB_HUMAN :
  • Q13191
Domain:
  • The N-terminus is composed of the phosphotyrosine binding (PTB) domain, a short linker region and the RING-type zinc finger. The PTB domain, which is also called TKB (tyrosine kinase binding) domain, is composed of three different subdomains: a four-helix bundle (4H), a calcium-binding EF hand and a divergent SH2 domain
  • The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme
  • The UBA domain interacts with poly-ubiquitinated proteins
  • Contains 1 Cbl-PTB (Cbl-type phosphotyrosine-binding) domain.
  • Contains 1 UBA domain.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with CBLB: view

Function for CBLB Gene

Molecular function for CBLB Gene

GENATLAS Biochemistry: protein (109kDa),homolog to the proto-oncogene v-cbl,expressed in a variety of normal tissues,potentially interacting with signal transduction molecules,regulating in mouse,the CD28 dependence of T cell activation and putatively contributing to autoimmune diseases
UniProtKB/Swiss-Prot Function: E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B-cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production. Also acts by promoting PIK3R1/p85 ubiquitination, which impairs its recruitment to the TCR and subsequent activation. In activated T-cells, inhibits PLCG1 activation and calcium mobilization upon restimulation and promotes anergy. In B-cells, acts by ubiquitinating SYK and promoting its proteasomal degradation. Slightly promotes SRC ubiquitination. May be involved in EGFR ubiquitination and internalization. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3.

Enzyme Numbers (IUBMB) for CBLB Gene

Gene Ontology (GO) - Molecular Function for CBLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine binding IEA --
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0004871 signal transducer activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12177062
genes like me logo Genes that share ontologies with CBLB: view
genes like me logo Genes that share phenotypes with CBLB: view

Animal Models for CBLB Gene

MGI Knock Outs for CBLB:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for CBLB Gene

Localization for CBLB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBLB Gene

Cytoplasm. Note=Upon EGF stimulation, associates with endocytic vesicles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBLB Gene COMPARTMENTS Subcellular localization image for CBLB gene
Compartment Confidence
cytosol 4
nucleus 4
plasma membrane 4

Gene Ontology (GO) - Cellular Components for CBLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CBLB: view

Pathways for CBLB Gene

genes like me logo Genes that share pathways with CBLB: view

UniProtKB/Swiss-Prot Q13191-CBLB_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for CBLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002669 positive regulation of T cell anergy IEA --
GO:0006607 NLS-bearing protein import into nucleus TAS 7784085
GO:0006955 immune response IEA --
GO:0007165 signal transduction TAS 7784085
GO:0007166 cell surface receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with CBLB: view

Compounds for CBLB Gene

(5) HMDB Compounds for CBLB Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Calcium
  • Ca
7440-70-2
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(5) Novoseek inferred chemical compound relationships for CBLB Gene

Compound -log(P) Hits PubMed IDs
tyrosine 55.9 18
phosphatidylinositol 36.9 4
proline 26.5 1
leucine 22 1
lipid 0 4
genes like me logo Genes that share compounds with CBLB: view

Transcripts for CBLB Gene

Unigene Clusters for CBLB Gene

Cbl proto-oncogene, E3 ubiquitin protein ligase B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CBLB Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a ·
SP1: - -
SP2: - -
SP3: - -
SP4: - - - - - - - - - - - - - - - -
SP5: -
SP6: - -
SP7:
SP8: -
SP9: - - - - -
SP10:

ExUns: 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22
SP1: - -
SP2:
SP3:
SP4: - -
SP5: - - -
SP6:
SP7: - - -
SP8:
SP9:
SP10:

Relevant External Links for CBLB Gene

GeneLoc Exon Structure for
CBLB
ECgene alternative splicing isoforms for
CBLB

Expression for CBLB Gene

mRNA expression in normal human tissues for CBLB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CBLB Gene

SOURCE GeneReport for Unigene cluster for CBLB Gene Hs.430589

mRNA Expression by UniProt/SwissProt for CBLB Gene

Q13191-CBLB_HUMAN
Tissue specificity: Expressed in placenta, heart, lung, kidney, spleen, ovary and testis, as well as fetal brain and liver and hematopoietic cell lines, but not in adult brain, liver, pancreas, salivary gland, or skeletal muscle. Present in lymphocytes (at protein level).
genes like me logo Genes that share expressions with CBLB: view

No data available for mRNA differential expression in normal tissues for CBLB Gene

Orthologs for CBLB Gene

This gene was present in the common ancestor of animals.

Orthologs for CBLB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBLB 35
  • 99.56 (n)
  • 99.9 (a)
CBLB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CBLB 35
  • 91.92 (n)
  • 97.25 (a)
CBLB 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBLB 35
  • 91.48 (n)
  • 97.15 (a)
CBLB 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cblb 35
  • 87.62 (n)
  • 94.88 (a)
Cblb 16
Cblb 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CBLB 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBLB 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cblb 35
  • 87.76 (n)
  • 95.2 (a)
chicken
(Gallus gallus)
Aves CBLB 35
  • 79.87 (n)
  • 87.04 (a)
CBLB 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CBLB 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cblb 35
  • 73.77 (n)
  • 78.9 (a)
zebrafish
(Danio rerio)
Actinopterygii cblb 35
  • 65.17 (n)
  • 70.6 (a)
cblb 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cbl 36
  • 41 (a)
OneToMany
Cbl 37
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea sli-1 36
  • 42 (a)
OneToMany
sli-1 37
  • 56 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToMany
Species with no ortholog for CBLB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CBLB Gene

ENSEMBL:
Gene Tree for CBLB (if available)
TreeFam:
Gene Tree for CBLB (if available)

Paralogs for CBLB Gene

Paralogs for CBLB Gene

Selected SIMAP similar genes for CBLB Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CBLB: view

Variants for CBLB Gene

Sequence variations from dbSNP and Humsavar for CBLB Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs726443 -- 105,719,476(+) TCCTA(C/T)AAGAT intron-variant
rs726444 -- 105,719,694(+) actta(C/T)tatac intron-variant
rs769315 -- 105,802,181(+) TCTTC(A/G)TTACT intron-variant
rs769316 -- 105,802,190(+) CTCGG(C/T)CCCTG intron-variant
rs769317 -- 105,802,210(+) TCTTT(C/T)CTTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CBLB Gene

Variant ID Type Subtype PubMed ID
nsv525071 CNV Gain 19592680
nsv829651 CNV Loss 17160897
dgv5228n71 CNV Loss 21882294
nsv877309 CNV Loss 21882294
nsv877310 CNV Loss 21882294
nsv877311 CNV Loss 21882294
nsv511097 CNV Complex 20534489
nsv508234 CNV Loss 20534489
nsv877312 CNV Loss 21882294

Relevant External Links for CBLB Gene

HapMap Linkage Disequilibrium report
CBLB
Human Gene Mutation Database (HGMD)
CBLB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBLB Gene

Disorders for CBLB Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for CBLB Gene including...

Search for CBLB Gene in MalaCards »

(4) Novoseek inferred disease relationships for CBLB Gene

Disease -log(P) Hits PubMed IDs
autoimmunity 47.5 7
lymphoma 34.7 4
tumors 0 2
cancer 0 4

Relevant External Links for CBLB

Genetic Association Database (GAD)
CBLB
Human Genome Epidemiology (HuGE) Navigator
CBLB
genes like me logo Genes that share disorders with CBLB: view

No data available for UniProtKB/Swiss-Prot for CBLB Gene

Publications for CBLB Gene

  1. Cloning and characterization of cbl-b: a SH3 binding protein with homology to the c-cbl proto-oncogene. (PMID: 7784085) Keane M.M. … Lipkowitz S. (Oncogene 1995) 2 3 4 23
  2. Tyrosine phosphorylation and complex formation of Cbl-b upon T cell receptor stimulation. (PMID: 10022120) Elly C. … Liu Y.-C. (Oncogene 1999) 3 4 23
  3. cbl-b inhibits epidermal growth factor receptor signaling. (PMID: 10086340) Ettenberg S.A. … Lipkowitz S. (Oncogene 1999) 3 4 23
  4. Cbl-b, a RING-type E3 ubiquitin ligase, targets phosphatidylinositol 3-kinase for ubiquitination in T cells. (PMID: 11087752) Fang D. … Liu Y.-C. (J. Biol. Chem. 2001) 3 4 23
  5. Cbl-b-dependent coordinated degradation of the epidermal growth factor receptor signaling complex. (PMID: 11375397) Ettenberg S.A. … Lipkowitz S. (J. Biol. Chem. 2001) 3 4 23

Products for CBLB Gene

  • Addgene plasmids for CBLB

Sources for CBLB Gene

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