Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23624
Gene name Gene Name - the full gene name approved by the HGNC.	Cbl proto-oncogene C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CBLC
Synonyms (NCBI Gene) Gene synonyms aliases	CBL-3, CBL-SL, RNF57
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.32
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029439	hsa-miR-26b-5p	Microarray	19088304

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001784	Function	Phosphotyrosine residue binding	IDA	14661060
GO:0001784	Function	Phosphotyrosine residue binding	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005154	Function	Epidermal growth factor receptor binding	IDA	10362357
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	14661060
GO:0007165	Process	Signal transduction	IBA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	10362357
GO:0016567	Process	Protein ubiquitination	IDA	14661060
GO:0016740	Function	Transferase activity	IEA
GO:0017124	Function	SH3 domain binding	IDA	10362357
GO:0017124	Function	SH3 domain binding	IEA
GO:0023051	Process	Regulation of signaling	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IBA
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	IBA
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	IDA	10362357
GO:0043409	Process	Negative regulation of MAPK cascade	IDA	10362357
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045121	Component	Membrane raft	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	14661060
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:1990790	Process	Response to glial cell derived neurotrophic factor	IEA

MIM	HGNC	e!Ensembl
608453	15961	ENSG00000142273

Protein

UniProt ID

Q9ULV8

Protein 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)

Protein 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

PDB

3OP0 , 3VRN , 3VRO , 3VRP , 3VRQ , 3VRR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02262	Cbl_N	13 → 145	CBL proto-oncogene N-terminal domain 1	Domain
PF02761	Cbl_N2	149 → 232	CBL proto-oncogene N-terminus, EF hand-like domain	Domain
PF02762	Cbl_N3	234 → 319	CBL proto-oncogene N-terminus, SH2-like domain	Domain
PF14447	Prok-RING_4	351 → 398		Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10362357}.

Sequence

MALAVAPWGRQWEEARALGRAVRMLQRLEEQCVDPRLSVSPPSLRDLLPRTAQLLREVAH
SRRAAGGGGPGGPGGSGDFLLIYLANLEAKSRQVAALLPPRGRRSANDELFRAGSRLRRQ
LAKLAIIFSHMHAELHALFPGGKYCGHMYQLTKAPAHTFWRESCGARCVLPWAEFESLLG
TCHPVEPGCTALALRTTIDLTCSGHVSIFEFDVFTRLFQPWPTLLKNWQLLAVNHPGYMA
FLTYDEVQERLQACRDKPGSYIFRPSCTRLGQWAIGYVSSDGSILQTIPANKPLSQVLLE
GQKDGFYLYPDGKTHNPDLTELGQAEPQQRIHVSEEQLQLYWAMDSTFELCKICAESNKD
VKIEPCGHLLCSCCLAAWQHSDSQTCPFCRCEIKGWEAVSIYQFHGQATAEDSGNSSDQE
GRELELGQVPLSAPPLPPRPDLPPRKPRNAQPKVRLLKGNSPPAALGPQDPAPA

Sequence length

474

Interactions

View interactions

	KEGG
	Ubiquitin mediated proteolysis Endocytosis

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Crohn Disease	Crohn's disease (time to progression)	N/A	N/A	GWAS

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Kidney Injury	Associate	38178022
Alzheimer Disease	Associate	37386009
Anemia Megaloblastic	Associate	21497120
Aortic Dissection	Associate	38178022
Breast Neoplasms	Associate	24466333, 25883215, 36043996
Carcinogenesis	Associate	29377892
Carcinoma Renal Cell	Associate	36385010
Cardiomyopathies	Associate	38168585
Cardiovascular Diseases	Associate	21497120, 32068834
Cognition Disorders	Associate	21497120
Cyanosis	Associate	32443968
Death	Associate	34655177
Dyspnea	Associate	32443968
Heart Failure	Associate	32443968
Homocystinuria	Associate	15292234, 20696242, 32457044
Hyperhomocysteinemia	Associate	21497120
Hypertension Pulmonary	Associate	32443968, 38168585
Melanoma	Associate	29377892
Methylcobalamin Deficiency CblG Type	Associate	32068834, 38168585
Methylmalonic acidemia	Associate	15292234, 20696242, 32457044, 33797888, 33982424
Methylmalonic acidemia	Stimulate	21497120
Methylmalonic acidemia	Inhibit	32443968
Methylmalonic acidemia with homocystinuria	Associate	25809485, 34655177
Methylmalonic acidemia with homocystinuria	Inhibit	32443968
Methylmalonic Aciduria and Homocystinuria CblF Type	Inhibit	21497120
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	32068834, 33797888
Muscular Dystrophies	Associate	21497120
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	21497120
Neoplasm Metastasis	Inhibit	36043996
Neoplasms	Associate	29377892
Neoplasms	Inhibit	36043996
Neurologic Manifestations	Associate	21497120, 32068834, 38178022
Parkinson Disease	Associate	21497120
Peripheral Nervous System Diseases	Associate	38168585
Vitamin B 12 Deficiency	Associate	29302025

CBLC (Cbl proto-oncogene C)