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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CBLB Gene

protein-coding   GIFtS: 67
GCID: GC03M105374

Cbl Proto-Oncogene B, E3 Ubiquitin Protein Ligase

(Previous names: Cas-Br-M (murine) ectropic retroviral transforming sequence...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cbl Proto-Oncogene B, E3 Ubiquitin Protein Ligase1 2     SH3-Binding Protein CBL-B2 3
Cas-Br-M (Murine) Ecotropic Retroviral Transforming Sequence B1 2     Cbl-b2
Cas-Br-M (Murine) Ectropic Retroviral Transforming Sequence B1 2     Cbl Proto-Oncogene, E3 Ubiquitin Protein Ligase B2
Casitas B-Lineage Lymphoma Proto-Oncogene B2 3     E3 Ubiquitin-Protein Ligase CBL-B2
Signal Transduction Protein CBL-B2 3     EC 6.3.2.-3
RNF562 3     EC 6.3.28
RING Finger Protein 562 3     

External Ids:    HGNC: 15421   Entrez Gene: 8682   Ensembl: ENSG000001144237   OMIM: 6044915   UniProtKB: Q131913   

Export aliases for CBLB gene to outside databases

Previous GC identifers: GC03M102013 GC03M104895 GC03M106658 GC03M106698 GC03M106859 GC03M102751


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CBLB Gene: 
CBLB (Cbl proto-oncogene B, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with CBLB include mmab-related methylmalonic acidemia, and methylmalonic acidemia, and among its related super-pathways are Antigen processing: Ubiquitination & Proteasome degradation and T cell receptor signaling pathway. GO annotations related to this gene include signal transducer activity and calcium ion binding. An important paralog of this gene is CBLC.

UniProtKB/Swiss-Prot: CBLB_HUMAN, Q13191
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. May also be involved in EGFR ubiquitination and internalization

Gene Wiki entry for CBLB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CBLB gene promoter:
         TBP   Pax-6   RelA   NF-kappaB   E4BP4   S8   deltaCREB   TFIID   STAT3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCBLB promoter sequence
   Search SABiosciences Chromatin IP Primers for CBLB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CBLB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q13.11   Ensembl cytogenetic band:  3q13.11   HGNC cytogenetic band: 3q

CBLB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBLB gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M105374:  view genomic region     (about GC identifiers)

Start:
105,374,305 bp from pter      End:
105,588,396 bp from pter
Size:
214,092 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CBLB_HUMAN, Q13191 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase CBL-B  
Size: 982 amino acids; 109450 Da
Subunit: Interacts with SH3 domain-containing proteins LCK, CRK and SORBS1. Interacts with LCP2 and ZAP70. May
interact with CBL (By similarity). 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
Subcellular location: Cytoplasm. Note=Upon EGF stimulation, associates with endocytic vesicles
Miscellaneous: This protein has one functional calcium-binding site (By similarity)
Sequence caution: Sequence=BAE45748.1; Type=Erroneous termination; Positions=904; Note=Translated as Arg;
Sequence=CAH56175.1; Type=Erroneous initiation;
6/10 PDB 3D structures from and Proteopedia for CBLB (see all 10):
2AK5 (3D)        2BZ8 (3D)        2DO6 (3D)        2J6F (3D)        2JNH (3D)        2LDR (3D)    
Secondary accessions: A8K9S7 B7WNM4 Q13192 Q13193 Q3LIC0 Q63Z43 Q8IVC5
Alternative splicing: 4 isoforms:  Q13191-1   Q13191-2   Q13191-3   Q13191-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CBLB: NX_Q13191

Explore proteomics data for CBLB at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on tyrosine and serine residues upon TCR or BCR activation, and upon various types of cell
    stimulation
  • UniProtKB: Auto-ubiquitinated upon EGF-mediated cell activation or upon T-cell costimulation by CD28; which promotes
    proteasomal degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13191

  • 4/17 DME Specific Peptides for CBLB (Q13191) (see all 17)
     PLQIPHL  LPDTYQHLR  QAPARPPKP  LKNSPPYILD 

    CBLB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CBLB Protein Expression
    REFSEQ proteins: NP_733762.2  
    ENSEMBL proteins: 
     ENSP00000377598   ENSP00000264122   ENSP00000384170   ENSP00000384816   ENSP00000384938  
     ENSP00000409750   ENSP00000400949   ENSP00000393906   ENSP00000377595   ENSP00000446116  
    Reactome Protein details: Q13191
    Human Recombinant Protein Products for CBLB: 
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    Novus Biologicals CBLB Proteins
    Novus Biologicals CBLB Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--

    CBLB for ontologies           About GeneDecksing



    CBLB Antibody Products: 
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    Assay Products for CBLB: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers

    5/12 InterPro protein domains (see all 12):
     IPR001841 Znf_RING
     IPR011992 EF-hand-like_dom
     IPR014742 Adaptor_Cbl_SH2-like
     IPR024162 Adaptor_Cbl
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q13191

    ProtoNet protein and cluster: Q13191

    4 Blocks protein domains:
    IPB000449 Ubiquitin-associated domain
    IPB000980 SH2 domain signature
    IPB001841 Zn-finger
    IPB003153 Adaptor protein Cbl


    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
    Domain: The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme
    Domain: The UBA domain interacts with poly-ubiquitinated proteins
    Similarity: Contains 1 Cbl-PTB (Cbl-type phosphotyrosine-binding) domain
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 UBA domain


    CBLB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CBLB_HUMAN, Q13191
    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. May also be involved in EGFR ubiquitination and internalization

         Genatlas biochemistry entry for CBLB:
    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

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001784phosphotyrosine binding IEA--
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0004871signal transducer activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12177062
         
    CBLB for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CBLB:
     Increased cilium length after  

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cblb):
     cardiovascular system  cellular  growth/size  hematopoietic system  immune system 
     integument  liver/biliary system  mortality/aging 

    CBLB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CBLB: Cblbtm1Hua Cblbtm1Pngr

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CBLB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CBLB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CBLB 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CBLB 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CBLB
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate CBLB (see all 23):
    hsa-miR-30c hsa-miR-181c hsa-miR-199b-3p hsa-miR-199a-3p hsa-miR-3129-5p hsa-miR-30d hsa-miR-944 hsa-miR-223
    SwitchGear 3'UTR luciferase reporter plasmidCBLB 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBLB


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CBLB About   (see all 26)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Ubiquitin mediated proteolysis0.36
    Class I MHC mediated antigen processing & presentation0.83
    2B cell receptor signaling pathway
    T cell receptor signaling pathway0.38
    TCR Signaling Pathway0.35
    3Immune System
    Immune System0.56
    Adaptive Immune System0.56
    4Signaling by the B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)0.81
    5ErbB signaling pathway
    ErbB signaling pathway0.52

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for CBLB
        Lymphocyte Signaling
    Tyrosine Kinases / Adaptors
    Protein Stability

    5/10 BioSystems Pathways for CBLB (see all 10)
        EGFR1 Signaling Pathway
    Insulin Signaling
    Kit Receptor Signaling Pathway
    IL-7 Signaling Pathway
    TCR Signaling Pathway


    5/6        Reactome Pathways for CBLB (see all 6)
        Antigen processing: Ubiquitination & Proteasome degradation
    Antigen Activates B Cell Receptor Leading to Generation of Second Messengers
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    5/11         Kegg Pathways  (Kegg details for CBLB) (see all 11):
        ErbB signaling pathway
    Ubiquitin mediated proteolysis
    Endocytosis
    Jak-STAT signaling pathway
    T cell receptor signaling pathway

    UniProtKB/Swiss-Prot: CBLB_HUMAN, Q13191
    Pathway: Protein modification; protein ubiquitination


    CBLB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CBLB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/160 Interacting proteins for CBLB (Q131911, 2, 3 ENSP000002641224) via UniProtKB, MINT, STRING, and/or I2D (see all 160)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3KBP1Q96B972, 3, ENSP000003809214MINT-6170285 MINT-60962 MINT-6170307 MINT-6170329 MINT-7218592 MINT-7218365 MINT-7218322 MINT-7218288 MINT-6170347 MINT-7218378 MINT-6170377 MINT-60960 MINT-60961 MINT-7218305 I2D: score=3 STRING: ENSP00000380921
    GRB2P629931, 2, 3, ENSP000003390074EBI-744027,EBI-401755 MINT-8256558 MINT-61549 I2D: score=7 STRING: ENSP00000339007
    CD2APQ9Y5K62, 3, ENSP000003522644MINT-7041409 MINT-7041451 MINT-7041464 MINT-7041365 I2D: score=1 STRING: ENSP00000352264
    ARHGEF7Q141552, 3, ENSP000003648934MINT-56632 MINT-56631 MINT-56630 I2D: score=3 STRING: ENSP00000364893
    CRKLP461092, 3, ENSP000003463004MINT-8028115 MINT-8030520 I2D: score=5 STRING: ENSP00000346300
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002669positive regulation of T cell anergy IEA--
    GO:0006607NLS-bearing substrate import into nucleus TAS7784085
    GO:0006955immune response IEA--
    GO:0007165signal transduction TAS7784085
    GO:0007166cell surface receptor signaling pathway IEA--

    CBLB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CBLB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CBLB

    5 HMDB Compounds for CBLB    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    5 Novoseek inferred chemical compound relationships for CBLB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 55.9 22 10022120 (5), 14604964 (2), 16503409 (2), 11375397 (1) (see all 12)
    phosphatidylinositol 36.9 4 11087752 (2), 18227156 (1), 12842890 (1)
    proline 26.5 1 10362357 (1)
    leucine 22 1 10362357 (1)
    lipid 0 4 14604964 (2), 18164258 (2)

    Search CenterWatch for drugs/clinical trials and news about CBLB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for CBLB gene: 
    NM_170662.3  

    Unigene Cluster for CBLB:

    Cbl proto-oncogene, E3 ubiquitin protein ligase B
    Hs.430589  [show with all ESTs]
    Unigene Representative Sequence: BX537484
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394030 ENST00000264122(uc003dwc.3 uc011bhi.2) ENST00000476370
    ENST00000407712(uc003dwa.3) ENST00000403724(uc003dwe.2) ENST00000405772(uc003dwd.2)
    ENST00000438603 ENST00000447441 ENST00000443752 ENST00000394027 ENST00000545639(uc011bhj.1)

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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CBLB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CBLB
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    Additional mRNA sequence: 

    AB075490.1 AK094184.1 AK123147.1 AK130668.1 AK292792.1 AK302533.1 AK302892.1 AK316276.1 
    BC032851.2 BC065915.1 BX537484.1 BX649066.1 CR749655.1 DQ349203.1 DQ349204.1 U26710.1 
    U26711.1 U26712.1 

    12 DOTS entries:

    DT.444439  DT.92053067  DT.434061  DT.100772721  DT.91719515  DT.101982100  DT.95162760  DT.100705648 
    DT.100778492  DT.120927257  DT.40131732  DT.100756329 

    24/160 AceView cDNA sequences (see all 160):

    AA862717 AK094184 BF448140 AI221219 CR622009 AA330838 BE043961 AA383817 
    AW338641 BF514278 BQ222488 BX115572 R67007 AI094520 BQ007649 AV701750 
    AI923831 CA428612 CA868238 BM931334 W72107 AI499586 AA883076 BG939368 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CBLB (see all 10)    About this scheme

    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:                                                                                                                                                        -   

    ExUns: 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22
    SP1:              -           -               
    SP2:                                          
    SP3:                                          
    SP4:              -           -               
    SP5:        -     -           -               


    ECgene alternative splicing isoforms for CBLB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CBLB expression in normal human tissues (normalized intensities)      CBLB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTGCCCAG
    CBLB Expression
    About this image


    CBLB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Blood (Hematopoietic System)
             nk cells   
     
     Brain (Nervous System)
             Cerebral Cortex

    See CBLB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CBLB

    SOURCE GeneReport for Unigene cluster: Hs.430589

    UniProtKB/Swiss-Prot: CBLB_HUMAN, Q13191
    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)

        SABiosciences Expression via Pathway-Focused PCR Arrays including CBLB: 
              EGF / PDGF Signaling Pathway in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              T-Cell Anergy & Immune Tolerance in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CBLB gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cblb1 , 5 Casitas B-lineage lymphoma b1, 5 88.22(n)1
    95.73(a)1
      16 (32.88 cM)5
    2086501  NM_001033238.11  NP_001028410.11 
     520315495 
    chicken
    (Gallus gallus)
    Aves CBLB1 Cas-Br-M (murine) ecotropic retroviral transforming more 79.82(n)
    87.4(a)
      418406  XM_416621.3  XP_416621.2 
    lizard
    (Anolis carolinensis)
    Reptilia CBLB6
    Cbl proto-oncogene, E3 ubiquitin protein ligase B
    83(a)
    1 ↔ 1
    3(170645491-170775331)
    zebrafish
    (Danio rerio)
    Actinopterygii cblb1 Cas-Br-M (murine) ecotropic retroviral transforming more 65.66(n)
    71.08(a)
      556277  XM_001921926.3  XP_001921961.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cbl3 dorsal/ventral axis determination,
    follicular more
    72(a)   3 66C12   --
    worm
    (Caenorhabditis elegans)
    Secernentea sli-13 adaptor-like E3 ubiquitin ligase 56(a)   X(756037-761201)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CBLB gene
    CBLC2  CBL2  
    3 SIMAP similar genes for CBLB using alignment to 7 protein entries:     CBLB_HUMAN (see all proteins):
    DKFZp779A0729    CBLC    CBL

    CBLB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4229 SNPs in CBLB are shown (see all 4229)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1417659371,2
    Cuntested1105421265(+) GCTGGG/AAGTGG 2 /L syn11Minor allele frequency- A:0.00NA 4550
    rs1820009991,2
    --105376721(+) TGCAAC/TGAAGA 1 -- ds50010--------
    rs1850397851,2
    --105376831(+) AGGTAC/TGTTAT 1 -- ds50010--------
    rs1506919861,2
    C--105376918(+) CAGGCA/GTAAGT 1 -- ds50010--------
    rs64376091,2
    C,H--105376942(+) GTTATT/ATAACT 1 -- ds500116Minor allele frequency- A:0.00NS EA NA WA CSA 666
    rs96579101,2
    C,F,H--105376995(-) AGCTAC/TTACAG 1 -- ds500117Minor allele frequency- T:0.04NS EA NA 1698
    rs1882403151,2
    --105377180(+) TTTTCA/CCATCT 1 -- ut310--------
    rs1810557571,2
    --105377181(+) TTTCCC/GATCTC 1 -- ut310--------
    rs1399366011,2
    --105377191(+) CTCAAC/TAGTGA 1 -- ut310--------
    rs353124271,2
    C--105377237(+) CATAC-/TTTTTT 1 -- ut311Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for CBLB (105374305 - 105588396 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CBLB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv877309CNV Loss21882294
    nsv877310CNV Loss21882294
    nsv829651CNV Loss17160897
    nsv877311CNV Loss21882294
    nsv877312CNV Loss21882294
    nsv508234CNV Loss20534489
    dgv5228n71CNV Loss21882294
    nsv525071CNV Gain19592680
    nsv511097CNV Complex20534489


    Human Gene Mutation Database (HGMD): CBLB
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CBLB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604491    OMIM disorders: --

    20/25 diseases for CBLB (see all 25):    About MalaCards
    mmab-related methylmalonic acidemia    methylmalonic acidemia    juvenile myelomonocytic leukemia    cblc
    leprosy    graves' disease    measles    type 1 diabetes mellitus
    myeloid leukemia    chronic myeloid leukemia    type 1 diabetes    multiple sclerosis
    acute myeloid leukemia    hepatitis    leukemia    systemic lupus erythematosus
    lupus erythematosus    hepatitis c    diabetes mellitus    neuroblastoma


    CBLB for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for CBLB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmunity 47.5 10 17391982 (2), 18565657 (1), 19801520 (1), 20395198 (1) (see all 6)
    lymphoma 34.7 4 11591765 (1), 18227156 (1), 17391982 (1), 20038312 (1)
    tumors 0 2 17403934 (2)
    cancer 0 4 17403934 (2), 17391982 (1), 20395198 (1)

    Genetic Association Database (GAD): CBLB
    Human Genome Epidemiology (HuGE) Navigator: CBLB (7 documents)

    Export disorders for CBLB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CBLB gene, integrated from 9 sources (see all 139):
    (articles sorted by number of sources associating them with CBLB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of cbl-b: a SH3 binding protein with homology to the c-cbl proto-oncogene. (PubMed id 7784085)1, 2, 3, 9 Keane M.M....Lipkowitz S. (1995)
    2. cbl-b inhibits epidermal growth factor receptor signaling. (PubMed id 10086340)1, 2, 9 Ettenberg S.A.... Lipkowitz S. (1999)
    3. Tyrosine phosphorylation and complex formation of Cbl-b upon T cell receptor stimulation. (PubMed id 10022120)1, 2, 9 Elly C....Liu Y.-C. (1999)
    4. Cbl-b interacts with ubiquitinated proteins; differential functions of the UBA domains of c-Cbl and Cbl-b. (PubMed id 15273720)1, 2, 9 Davies G.C.... Lipkowitz S. (2004)
    5. Cbl-b, a RING-type E3 ubiquitin ligase, targets phosphatidylinositol 3-kinase for ubiquitination in T cells. (PubMed id 11087752)1, 2, 9 Fang D.... Liu Y.-C. (2001)
    6. CIN85 participates in Cbl-b-mediated down-regulation of receptor tyrosine kinases. (PubMed id 12177062)1, 2, 9 Szymkiewicz I....Dikic I. (2002)
    7. Cbl-b-dependent coordinated degradation of the epidermal growth factor receptor signaling complex. (PubMed id 11375397)1, 2, 9 Ettenberg S.A.... Lipkowitz S. (2001)
    8. CBLB variants in type 1 diabetes and their genetic interaction with CTLA4. (PubMed id 15629882)1, 4, 9 Bergholdt R....Pociot F. (2005)
    9. Proteolysis-independent regulation of PI3K by Cbl-b-mediated ubiquitination in T cells. (PubMed id 11526404)1, 2, 9 Fang D. and Liu Y.-C. (2001)
    10. Cbl promotes clustering of endocytic adaptor proteins. (PubMed id 16228008)1, 2, 9 Jozic D.... Bravo J. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 868 HGNC: 1542 AceView: CBLB Ensembl:ENSG00000114423 euGenes: HUgn868
    ECgene: CBLB Kegg: 868 H-InvDB: CBLB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CBLB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CBLB Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CBLB gene:
    Search GeneIP for patents involving CBLB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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