• Gene id: 868

Gene Summary

• Gene Symbol: CBLB   Gene   UCSC   Ensembl
• Aliases: Cbl-b, Nbla00127, RNF56
• Gene name: Cbl proto-oncogene B
• Alternate names: E3 ubiquitin-protein ligase CBL-B, Cas-Br-M (murine) ecotropic retroviral transforming sequence b, Cbl proto-oncogene B, E3 ubiquitin protein ligase, Cbl proto-oncogene, E3 ubiquitin protein ligase B, RING finger protein 56, RING-type E3 ubiquitin transferase ,
• Gene location: 3q13.11 (105869551: 105655460)     Exons: 31     NC_000003.12
• Gene summary(Entrez): This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response

Protein Summary

• Protein general information: Q13191  
  • Name: E3 ubiquitin protein ligase CBL B (EC 2.3.2.27) (Casitas B lineage lymphoma proto oncogene b) (RING finger protein 56) (RING type E3 ubiquitin transferase CBL B) (SH3 binding protein CBL B) (Signal transduction protein CBL B)
  • Length: 982  
  • Mass: 109450
  • 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 (a
• Sequence:

  MANSMNGRNPGGRGGNPRKGRILGIIDAIQDAVGPPKQAAADRRTVEKTWKLMDKVVRLCQNPKLQLKNSPPYIL
  DILPDTYQHLRLILSKYDDNQKLAQLSENEYFKIYIDSLMKKSKRAIRLFKEGKERMYEEQSQDRRNLTKLSLIF
  SHMLAEIKAIFPNGQFQGDNFRITKADAAEFWRKFFGDKTIVPWKVFRQCLHEVHQISSGLEAMALKSTIDLTCN
  DYISVFEFDIFTRLFQPWGSILRNWNFLAVTHPGYMAFLTYDEVKARLQKYSTKPGSYIFRLSCTRLGQWAIGYV
  TGDGNILQTIPHNKPLFQALIDGSREGFYLYPDGRSYNPDLTGLCEPTPHDHIKVTQEQYELYCEMGSTFQLCKI
  CAENDKDVKIEPCGHLMCTSCLTAWQESDGQGCPFCRCEIKGTEPIIVDPFDPRDEGSRCCSIIDPFGMPMLDLD
  DDDDREESLMMNRLANVRKCTDRQNSPVTSPGSSPLAQRRKPQPDPLQIPHLSLPPVPPRLDLIQKGIVRSPCGS
  PTGSPKSSPCMVRKQDKPLPAPPPPLRDPPPPPPERPPPIPPDNRLSRHIHHVESVPSRDPPMPLEAWCPRDVFG
  TNQLVGCRLLGEGSPKPGITASSNVNGRHSRVGSDPVLMRKHRRHDLPLEGAKVFSNGHLGSEEYDVPPRLSPPP
  PVTTLLPSIKCTGPLANSLSEKTRDPVEEDDDEYKIPSSHPVSLNSQPSHCHNVKPPVRSCDNGHCMLNGTHGPS
  SEKKSNIPDLSIYLKGDVFDSASDPVPLPPARPPTRDNPKHGSSLNRTPSDYDLLIPPLGEDAFDALPPSLPPPP
  PPARHSLIEHSKPPGSSSRPSSGQDLFLLPSDPFVDLASGQVPLPPARRLPGENVKTNRTSQDYDQLPSCSDGSQ
  APARPPKPRPRRTAPEIHHRKPHGPEAALENVDAKIAKLMGEGYAFEEVKRALEIAQNNVEVARSILREFAFPPP
  VSPRLNL

• Structural information:
  • Protein Domains: (35..34-)
    (/note="Cbl-PTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00839-)
    (931..97-)
    (/note="UBA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00212"-)
  • Interpro: IPR024162  IPR014741  IPR036537  IPR003153  IPR014742   IPR039520  IPR024159  IPR011992  IPR036860  IPR015940  IPR001841  IPR013083  IPR017907  
  • Prosite: PS51506 PS50030 PS00518 PS50089
  • CDD: cd16709 cd09920
  • PDB: 2AK5 2BZ8 2DO6 2J6F 2JNH 2LDR 2OOA 2OOB 3PFV 3VGO 3ZNI
  • PDBsum: 2AK5 2BZ8 2DO6 2J6F 2JNH 2LDR 2OOA 2OOB 3PFV 3VGO 3ZNI
  • DIP: 33091
  • STRING: ENSP00000264122
• Other Databases: GeneCards:  CBLB  Malacards:  CBLB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IBA	biological process
GO:0007175	negative regulation of epidermal growth factor-activated receptor activity	IBA	biological process
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0045121	membrane raft	IBA	cellular component
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0030971	receptor tyrosine kinase binding	IBA	molecular function
GO:2000583	regulation of platelet-derived growth factor receptor-alpha signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0023051	regulation of signaling	IEA	biological process
GO:0001784	phosphotyrosine residue binding	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008270	zinc ion binding	TAS	molecular function
GO:0006607	NLS-bearing protein import into nucleus	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04120	Ubiquitin mediated proteolysis
hsa04910	Insulin signaling pathway
hsa05162	Measles
hsa04625	C-type lectin receptor signaling pathway
hsa04660	T cell receptor signaling pathway
hsa04012	ErbB signaling pathway

Diseases

Associated diseases	References
type 1 diabetes mellitus	PMID:18201552
type 1 diabetes mellitus	PMID:15629882
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881