• Gene id: 23624

Gene Summary

• Gene Symbol: CBLC   Gene   UCSC   Ensembl
• Aliases: CBL-3, CBL-SL, RNF57
• Gene name: Cbl proto-oncogene C
• Alternate names: E3 ubiquitin-protein ligase CBL-C, Cas-Br-M (murine) ecotropic retroviral transforming sequence c, Cas-Br-M (murine) ectropic retroviral transforming sequence c, Cbl proto-oncogene C, E3 ubiquitin protein ligase, Cbl proto-oncogene, E3 ubiquitin protein ligas,
• Gene location: 19q13.32 (44777854: 44800651)     Exons: 13     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial

Protein Summary

• Protein general information: Q9ULV8  
  • Name: E3 ubiquitin protein ligase CBL C (EC 2.3.2.27) (RING finger protein 57) (RING type E3 ubiquitin transferase CBL C) (SH3 binding protein CBL 3) (SH3 binding protein CBL C) (Signal transduction protein CBL C)
  • Length: 474  
  • Mass: 52456
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MALAVAPWGRQWEEARALGRAVRMLQRLEEQCVDPRLSVSPPSLRDLLPRTAQLLREVAHSRRAAGGGGPGGPGG
  SGDFLLIYLANLEAKSRQVAALLPPRGRRSANDELFRAGSRLRRQLAKLAIIFSHMHAELHALFPGGKYCGHMYQ
  LTKAPAHTFWRESCGARCVLPWAEFESLLGTCHPVEPGCTALALRTTIDLTCSGHVSIFEFDVFTRLFQPWPTLL
  KNWQLLAVNHPGYMAFLTYDEVQERLQACRDKPGSYIFRPSCTRLGQWAIGYVSSDGSILQTIPANKPLSQVLLE
  GQKDGFYLYPDGKTHNPDLTELGQAEPQQRIHVSEEQLQLYWAMDSTFELCKICAESNKDVKIEPCGHLLCSCCL
  AAWQHSDSQTCPFCRCEIKGWEAVSIYQFHGQATAEDSGNSSDQEGRELELGQVPLSAPPLPPRPDLPPRKPRNA
  QPKVRLLKGNSPPAALGPQDPAPA

• Structural information:
  • Protein Domains: (7..32-)
    (/note="Cbl-PTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00839"-)
  • Interpro: IPR024162  IPR014741  IPR036537  IPR003153  IPR014742   IPR024159  IPR011992  IPR036860  IPR001841  IPR013083  IPR017907  
  • Prosite: PS51506 PS00518 PS50089
  • CDD: cd09920
  • PDB: 3OP0 3VRN 3VRO 3VRP 3VRQ 3VRR
  • PDBsum: 3OP0 3VRN 3VRO 3VRP 3VRQ 3VRR
  • STRING: ENSP00000270279
• Other Databases: GeneCards:  CBLC  Malacards:  CBLC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0045121	membrane raft	IBA	cellular component
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0007175	negative regulation of epidermal growth factor-activated receptor activity	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0030971	receptor tyrosine kinase binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
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:0017124	SH3 domain binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0005154	epidermal growth factor receptor binding	IDA	molecular function
GO:0017124	SH3 domain binding	IDA	molecular function
GO:0001784	phosphotyrosine residue binding	IDA	molecular function
GO:0007175	negative regulation of epidermal growth factor-activated receptor activity	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	IDA	biological process
GO:0043407	negative regulation of MAP kinase activity	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq