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Aliases for CBLC Gene

Aliases for CBLC Gene

  • Cbl Proto-Oncogene C, E3 Ubiquitin Protein Ligase 2 3
  • Cas-Br-M (Murine) Ecotropic Retroviral Transforming Sequence C 2 3
  • Cas-Br-M (Murine) Ectropic Retroviral Transforming Sequence C 2 3
  • Signal Transduction Protein CBL-C 3 4
  • SH3-Binding Protein CBL-3 3 4
  • SH3-Binding Protein CBL-C 3 4
  • RING Finger Protein 57 3 4
  • RNF57 3 4
  • Cbl Proto-Oncogene, E3 Ubiquitin Protein Ligase C 3
  • E3 Ubiquitin-Protein Ligase CBL-C 3
  • EC 6.3.2.- 4
  • CBL-SL 3
  • CBL-3 3
  • CBL3 4

External Ids for CBLC Gene

Previous GeneCards Identifiers for CBLC Gene

  • GC19P045925
  • GC19P045672
  • GC19P049957
  • GC19P049972
  • GC19P045281
  • GC19P041713

Summaries for CBLC Gene

Entrez Gene Summary for CBLC Gene

  • 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 cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for CBLC Gene

CBLC (Cbl Proto-Oncogene C, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Among its related pathways are Proteoglycans in cancer and Pathways in cancer. GO annotations related to this gene include calcium ion binding and signal transducer activity. An important paralog of this gene is CBLB.

UniProtKB/Swiss-Prot for CBLC Gene

  • Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at Tyr-419. In collaboration with CD2AP may act as regulatory checkpoint for Ret signaling by modulating the rate of RET degradation after ligand activation; CD2AP converts it from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival.

Gene Wiki entry for CBLC Gene

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

Genomics for CBLC Gene

Regulatory Elements for CBLC Gene

Genomic Location for CBLC Gene

Start:
44,777,869 bp from pter
End:
44,800,646 bp from pter
Size:
22,778 bases
Orientation:
Plus strand

Genomic View for CBLC Gene

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

RefSeq DNA sequence for CBLC Gene

Proteins for CBLC Gene

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

    Protein Symbol:
    Q9ULV8-CBLC_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase CBL-C
    Protein Accession:
    Q9ULV8
    Secondary Accessions:
    • Q8N1E5
    • Q9Y5Z2
    • Q9Y5Z3

    Protein attributes for CBLC Gene

    Size:
    474 amino acids
    Molecular mass:
    52456 Da
    Quaternary structure:
    • Interacts with ubiquitin-conjugating enzyme E2 UBE2D2 and UBE2D3. Isoform 1 interacts with EGFR (tyrosine phosphorylated). Interacts with the SH3 domain proteins LYN and CRK. Interacts (via RING-type zinc finger) with TGFB1I1 (via LIM zinc-binding domain 2); the interaction is direct and enhances the E3 activity. Interacts directly with RET (inactive) and CD2AP; dissociates from RET upon RET activation by GDNF which also increases the interaction with CD2AP suggesting dissociation as CBLC:CD2AP complex. Interacts with SRC; the interaction is enhanced when SRC is phosphorylated at Tyr-419.
    Miscellaneous:
    • This protein has one functional calcium-binding site

    Three dimensional structures from OCA and Proteopedia for CBLC Gene

    Alternative splice isoforms for CBLC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBLC Gene

Proteomics data for CBLC Gene at MOPED

Post-translational modifications for CBLC Gene

  • Autoubiquitinated when phosphorylated at Tyr-341, enhanced by SRC; suggesting proteasomal degradation.
  • Phosphorylated on multiple tyrosine residues by SRC. Isoform 1, but not isoform 2, is phosphorylated on tyrosines by EGFR
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CBLC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CBLC Gene

Domains for CBLC Gene

Gene Families for CBLC Gene

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

Suggested Antigen Peptide Sequences for CBLC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULV8

UniProtKB/Swiss-Prot:

CBLC_HUMAN :
  • Q9ULV8
Domain:
  • EF-hand-like and Sh2-like domains are required for N-terminal inhibition of E3 activity.
  • 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.
  • Contains 1 Cbl-PTB (Cbl-type phosphotyrosine-binding) domain.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with CBLC: view

Function for CBLC Gene

Molecular function for CBLC Gene

UniProtKB/Swiss-Prot EnzymeRegulation: Phosphorylation at Tyr-341 is necessary and sufficient for the activation of E3 activity.
UniProtKB/Swiss-Prot Function: Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at Tyr-419. In collaboration with CD2AP may act as regulatory checkpoint for Ret signaling by modulating the rate of RET degradation after ligand activation; CD2AP converts it from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival.

Enzyme Numbers (IUBMB) for CBLC Gene

Gene Ontology (GO) - Molecular Function for CBLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine binding IDA 14661060
GO:0004842 ubiquitin-protein transferase activity --
GO:0004871 signal transducer activity IEA --
GO:0005154 epidermal growth factor receptor binding IDA 10362357
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with CBLC: view

Phenotypes for CBLC Gene

MGI mutant phenotypes for CBLC:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with CBLC: view

miRNA for CBLC Gene

miRTarBase miRNAs that target CBLC

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for CBLC Gene

Localization for CBLC Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBLC Gene COMPARTMENTS Subcellular localization image for CBLC gene
Compartment Confidence
nucleus 3
cytosol 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CBLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CBLC: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CBLC Gene

Pathways for CBLC Gene

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

Gene Ontology (GO) - Biological Process for CBLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007175 negative regulation of epidermal growth factor-activated receptor activity IDA 10362357
GO:0016567 protein ubiquitination IDA 14661060
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway IDA 10362357
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA 14661060
genes like me logo Genes that share ontologies with CBLC: view

Compounds for CBLC Gene

(5) HMDB Compounds for CBLC 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

(1) Novoseek inferred chemical compound relationships for CBLC Gene

Compound -log(P) Hits PubMed IDs
tyrosine 43.4 1
genes like me logo Genes that share compounds with CBLC: view

Transcripts for CBLC Gene

Unigene Clusters for CBLC Gene

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

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -

Relevant External Links for CBLC Gene

GeneLoc Exon Structure for
CBLC
ECgene alternative splicing isoforms for
CBLC

Expression for CBLC Gene

mRNA expression in normal human tissues for CBLC Gene

mRNA differential expression in normal tissues according to GTEx for CBLC Gene

This gene is overexpressed in Esophagus - Mucosa (6.7), Skin - Not Sun Exposed (Suprapubic) (6.5), Colon - Transverse (6.3), and Skin - Sun Exposed (Lower leg) (5.9).

SOURCE GeneReport for Unigene cluster for CBLC Gene Hs.466907

mRNA Expression by UniProt/SwissProt for CBLC Gene

Q9ULV8-CBLC_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with CBLC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression for CBLC Gene

Orthologs for CBLC Gene

This gene was present in the common ancestor of animals.

Orthologs for CBLC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBLC 35
  • 90.19 (n)
  • 88.61 (a)
CBLC 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CBLC 35
  • 86.21 (n)
  • 83.64 (a)
CBLC 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBLC 35
  • 83.57 (n)
  • 79.58 (a)
CBLC 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cblc 35
  • 80.02 (n)
  • 75.69 (a)
Cblc 16
Cblc 36
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CBLC 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBLC 36
  • 31 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cblc 35
  • 80.22 (n)
  • 77.14 (a)
lizard
(Anolis carolinensis)
Reptilia CBLC 36
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CBLC 36
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cbl 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sli-1 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToMany
Species with no ortholog for CBLC:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CBLC Gene

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

Paralogs for CBLC Gene

Paralogs for CBLC Gene

Selected SIMAP similar genes for CBLC Gene using alignment to 1 proteins:

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

Variants for CBLC Gene

Sequence variations from dbSNP and Humsavar for CBLC Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs748913 -- 44,800,321(-) TCTGC(C/G)CCTCT intron-variant
rs899087 -- 44,791,300(-) gggac(A/G)gagcc intron-variant
rs1079419 -- 44,778,981(-) GGGTG(C/T)CCAAG intron-variant
rs1382090 -- 44,784,417(-) CCTAC(C/G)AGAAT intron-variant, nc-transcript-variant
rs1809335 -- 44,780,734(-) gcact(C/T)tggga intron-variant

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

Variant ID Type Subtype PubMed ID
nsv912116 CNV Loss 21882294
nsv833841 CNV Loss 17160897
nsv2506 CNV Loss 18451855
dgv3945n71 CNV Gain 21882294

Relevant External Links for CBLC Gene

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

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

Disorders for CBLC Gene

No disorders were found for CBLC Gene.

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

Publications for CBLC Gene

  1. cbl-3: a new mammalian cbl family protein. (PMID: 10362357) Keane M.M. … Lipkowitz S. (Oncogene 1999) 2 3 4 23
  2. CD2AP and Cbl-3/Cbl-c constitute a critical checkpoint in the regulation of ret signal transduction. (PMID: 18753381) Tsui C.C. … Pierchala B.A. (J. Neurosci. 2008) 3 4 23
  3. Molecular cloning and characterization of a novel cbl-family gene, cbl-c. (PMID: 10571044) Kim M. … Yamamoto T. (Gene 1999) 2 3 4
  4. CIN85 participates in Cbl-b-mediated down-regulation of receptor tyrosine kinases. (PMID: 12177062) Szymkiewicz I. … Dikic I. (J. Biol. Chem. 2002) 3 23
  5. Cbl-c suppresses v-Src-induced transformation through ubiquitin-dependent protein degradation. (PMID: 14661060) Kim M. … Yamamoto T. (Oncogene 2004) 3 4

Products for CBLC Gene

Sources for CBLC Gene

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