CBL - Cbl proto-oncogene Gene
Also Known as CBL2; NSLL; C-CBL; RNF55; FRA11B
Species: Homo sapiens
About CBL
This gene has 6 transcripts (splice variants), 264 orthologues, 2 paralogues and is associated with 119 phenotypes. Broad expression in testis (RPKM 12.3), lymph node (RPKM 6.0) and 23 other tissues.
Summary
This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin Ligase. The encoded protein is one of the Enzymes required for targeting substrates for degradation by the Proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating Enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for Proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]
CBL Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_005188.4 | NP_005179.2 | E3 ubiquitin-protein ligase CBL |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables SH3 domain binding |
IPI
IPI: Inferred from physical interaction
|
9447983 | GOA |
| enables ephrin receptor binding |
IPI
IPI: Inferred from physical interaction
|
18034775 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
5668240 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of apoptotic process |
IMP
IMP: Inferred from mutant phenotype
|
18070883 | GOA |
| involved in negative regulation of epidermal growth factor receptor signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
25178484 | GOA |
| involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction |
IMP
IMP: Inferred from mutant phenotype
|
17003487 | GOA |
| involved in positive regulation of receptor-mediated endocytosis |
IMP
IMP: Inferred from mutant phenotype
|
15465819 | GOA |
| involved in protein ubiquitination |
IDA
IDA: Inferred from direct assay
|
17974561 | GOA |
| involved in protein ubiquitination |
IMP
IMP: Inferred from mutant phenotype
|
17094949 | GOA |
| involved in ubiquitin-dependent protein catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
25178484 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
29237719 | GOA |
| located in cilium |
IDA
IDA: Inferred from direct assay
|
29237719 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15465819 | GOA |
CBL Protein Structure
Cbl_N: CBL proto-oncogene N-terminal domain 1 (48 - 176)
Cbl_N2: CBL proto-oncogene N-terminus, EF hand-like domain (178 - 262)
Cbl_N3: CBL proto-oncogene N-terminus, SH2-like domain (264 - 349)
zf-C3HC4_3: Zinc finger, C3HC4 type (RING finger) (380 - 424)
UBA: UBA/TS-N domain (861 - 892)
- 0
- 200
- 400
- 600
- 800
- 906 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
E3 ubiquitin-protein ligase CBL |
|
CBL Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CBL | P22681 | NTRK1 | Homo sapiens | P04629 | 21570973 | |
|
Intra
|
CBL | P22681 | MET | Homo sapiens | P08581 | 11894096 | |
|
Intra
|
CBL | P22681 | MET | Homo sapiens | P08581 | 25241761 | |
|
Intra
|
CBL | P22681 | MET | Homo sapiens | P08581 | 18273061 | |
|
Intra
|
CBL | P22681 | MET | Homo sapiens | P08581 | 21163258 | |
|
Intra
|
CBL | P22681 | MET | Homo sapiens | P08581 | 18273061 | |
|
Intra
|
CBL | P22681 | MET | Homo sapiens | P08581 | 21163258 | |
|
Intra
|
CBL | P22681 | ZAP70 | Homo sapiens | P43403 | 22266821 | |
|
Intra
|
CBL | P22681 | ZAP70 | Homo sapiens | P43403 | 22266821 | |
|
Intra
|
CBL | P22681 | MAPK8 | Homo sapiens | P45983 | 16982329 | |
|
Intra
|
CBL | P22681 | EGFR | Homo sapiens | P00533 | 23799367 | |
|
Intra
|
CBL | P22681 | EGFR | Homo sapiens | P00533 | 16914641 | |
|
Intra
|
CBL | P22681 | EGFR | Homo sapiens | P00533 | 18273061 | |
|
Intra
|
CBL | P22681 | EGFR | Homo sapiens | P00533 | 15962011 | |
|
Intra
|
CBL | P22681 | EGFR | Homo sapiens | P00533 | 18273061 | |
|
Intra
|
CBL | P22681 | EGFR | Homo sapiens | P00533 | 7657591 | |
|
Intra
|
CBL | P22681 | EGFR | Homo sapiens | P00533 | 23799367 | |
|
Intra
|
CBL | P22681 | EGFR | Homo sapiens | P00533 | 20562913 | |
|
Intra
|
CBL | P22681 | EGFR | Homo sapiens | P00533 | 8662998 | |
|
Intra
|
CBL | P22681 | CD2AP | Homo sapiens | Q9Y5K6 | 17020880 | |
|
Intra
|
CBL | P22681 | CD2AP | Homo sapiens | Q9Y5K6 | 11067845 | |
|
Intra
|
CBL | P22681 | CD2AP | Homo sapiens | Q9Y5K6 | 11067845 | |
|
Intra
|
CBL | P22681 | CD2AP | Homo sapiens | Q9Y5K6 | 17020880 | |
|
Intra
|
CBL | P22681 | CD2AP | Homo sapiens | Q9Y5K6 | 25036637 | |
|
Intra
|
CBL | P22681 | YWHAH | Homo sapiens | Q04917 | 25036637 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 10679202 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 16407834 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 11894095 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 10679202 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 12177062 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 11894095 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 19268472 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 10679202 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 11894095 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 15962011 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 14596919 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 11894095 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 25036637 | |
|
Intra
|
CBL | P22681 | SH3KBP1 | Homo sapiens | Q96B97 | 20711168 | |
|
Intra
|
CBL | P22681 | PIK3R2 | Homo sapiens | O00459 | 19380743 | |
|
Intra
|
CBL | P22681 | YWHAZ | Homo sapiens | P63104 | 11697890 | |
|
Intra
|
CBL | P22681 | UBE2D2 | Homo sapiens | P62837 | 22266821 | |
|
Intra
|
CBL | P22681 | UBE2D2 | Homo sapiens | P62837 | 22266821 | |
|
Intra
|
CBL | P22681 | SPRY4 | Homo sapiens | Q9C004 | 18273061 | |
|
Intra
|
CBL | P22681 | SPRY4 | Homo sapiens | Q9C004 | 18273061 | |
|
Intra
|
CBL | P22681 | SPRY4 | Homo sapiens | Q9C004 | 18273061 | |
|
Intra
|
CBL | P22681 | YWHAE | Homo sapiens | P62258 | 25036637 | |
|
Intra
|
CBL | P22681 | YWHAE | Homo sapiens | P62258 | 36931259 | |
|
Intra
|
CBL | P22681 | YWHAE | Homo sapiens | P62258 | 11697890 | |
|
Intra
|
CBL | P22681 | YWHAB | Homo sapiens | P31946 | 11157475 | |
|
Intra
|
CBL | P22681 | YWHAG | Homo sapiens | P61981 | 11697890 | |
|
Intra
|
CBL | P22681 | YWHAQ | Homo sapiens | P27348 | 15094368 | |
|
Intra
|
CBL | P22681 | YWHAQ | Homo sapiens | P27348 | 9092538 | |
|
Intra
|
CBL | P22681 | GRB2 | Homo sapiens | P62993 | 23799367 | |
|
Intra
|
CBL | P22681 | GRB2 | Homo sapiens | P62993 | 25036637 | |
|
Intra
|
CBL | P22681 | GRB2 | Homo sapiens | P62993 | 25814554 | |
|
Intra
|
CBL | P22681 | GRB2 | Homo sapiens | P62993 | 19380743 | |
|
Intra
|
CBL | P22681 | GRB2 | Homo sapiens | P62993 | 15677445 | |
|
Intra
|
CBL | P22681 | F2RL1 | Homo sapiens | P55085 | 15708858 | |
|
Intra
|
CBL | P22681 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
CBL | P22681 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
CBL | P22681 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
CBL | P22681 | SFN | Homo sapiens | P31947 | 11697890 | |
|
Intra
|
CBL | P22681 | ITSN1 | Homo sapiens | Q15811 | 16914641 | |
|
Intra
|
CBL | P22681 | ITSN1 | Homo sapiens | Q15811 | 16914641 | |
|
Intra
|
CBL | P22681 | ITSN1 | Homo sapiens | Q15811 | 16914641 | |
|
Intra
|
CBL | P22681 | ITSN1 | Homo sapiens | Q15811 | 16914641 | |
|
Intra
|
CBL | P22681 | SRC | Homo sapiens | P12931 | 16636290 | |
|
Intra
|
CBL | P22681 | SRC | Homo sapiens | P12931 | 17094785 | |
|
Intra
|
CBL | P22681 | SRC | Homo sapiens | P12931 | 17094785 | |
|
Intra
|
CBL | P22681 | ARHGEF7 | Homo sapiens | Q14155 | 16407834 | |
|
Intra
|
CBL | P22681 | SPRY2 | Homo sapiens | O43597 | 18273061 | |
|
Intra
|
CBL | P22681 | SPRY2 | Homo sapiens | O43597 | 18273061 | |
|
Intra
|
CBL | P22681 | SPRY2 | Homo sapiens | O43597 | 16893902 | |
|
Intra
|
CBL | P22681 | SPRY2 | Homo sapiens | O43597 | 12815057 | |
|
Intra
|
CBL | P22681 | SPRY2 | Homo sapiens | O43597 | 15962011 | |
|
Intra
|
CBL | P22681 | SH2B2 | Homo sapiens | O14492 | 15737992 | |
|
Intra
|
CBL | P22681 | SH2B2 | Homo sapiens | O14492 | 18273061 | |
|
Intra
|
CBL | P22681 | SYK | Homo sapiens | P43405 | 18273061 | |
|
Intra
|
CBL | P22681 | SYK | Homo sapiens | P43405 | 15556646 | |
|
Intra
|
CBL | P22681 | SYK | Homo sapiens | P43405 | 8621719 | |
|
Intra
|
CBL | P22681 | SYK | Homo sapiens | P43405 | 18273061 | |
|
Intra
|
CBL | P22681 | PIK3R1 | Homo sapiens | P27986 | 16219545 | |
|
Intra
|
CBL | P22681 | PIK3R1 | Homo sapiens | P27986 | 19380743 | |
|
Intra
|
CBL | P22681 | PIK3R1 | Homo sapiens | P27986 | 16982329 | |
|
Intra
|
CBL | P22681 | PIK3R1 | Homo sapiens | P27986 | 9890970 | |
|
Intra
|
CBL | P22681 | PIK3R1 | Homo sapiens | P27986 | 15556646 | |
|
Intra
|
CBL | P22681 | PIK3R1 | Homo sapiens | P27986 | 7642581 | |
|
Intra
|
CBL | P22681 | PIK3R1 | Homo sapiens | P27986 | 9160881 | |
|
Intra
|
CBL | P22681 | PIK3R1 | Homo sapiens | P27986 | 8621719 | |
|
Intra
|
CBL | P22681 | PIK3R3 | Homo sapiens | Q92569 | 25814554 | |
|
Intra
|
CBL | P22681 | CRK | Homo sapiens | P46108 | 19380743 | |
|
Intra
|
CBL | P22681 | CRK | Homo sapiens | P46108 | 25814554 | |
|
Intra
|
CBL | P22681 | CRK | Homo sapiens | P46108 | 8524328 | |
|
Intra
|
CBL | P22681 | CRKL | Homo sapiens | P46109 | 15556646 | |
|
Intra
|
CBL | P22681 | CRKL | Homo sapiens | P46109 | 15556646 | |
|
Intra
|
CBL | P22681 | CRKL | Homo sapiens | P46109 | 8626543 | |
|
Intra
|
CBL | P22681 | ATXN1 | Homo sapiens | P54253 | 32814053 | |
|
Intra
|
CBL | P22681 | ATXN1 | Homo sapiens | P54253 | 32814053 | |
|
Intra
|
CBL | P22681 | ATXN1 | Homo sapiens | P54253 | 32814053 | |
|
Intra
|
CBL | P22681 | HCK | Homo sapiens | P08631-2 | 10092522 | |
|
Cross
|
CBL | P22681 | PLCG1 | Sus scrofa | F1SDV6 | 17372230 | |
|
Cross
|
CBL | P22681 | lpqN | Mycobacterium tuberculosis | A0A0H3L6J6 | 30118682 |
CBL Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81294 | Phospho-CBL (Tyr774) Antibody (YA1014) | WB, IP | Human, Rat |
| HY-P81294A | Phospho-CBL (Ser669) Antibody (YA1015) | WB | Human |
| HY-P81294AA | Phospho-CBL (Ser669) Antibody (YA1015)(PBS only) | WB | Human |
| HY-P82647 | CBL Antibody (YA2392) | WB, ICC/IF, IP | Human |
| HY-P82647A | CBL Antibody (YA2392)(PBS only) | WB, ICC/IF, IP | Human |
| HY-P84192 | CBL Antibody (YA3889) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Monkey, Rabbit |
| HY-P84192A | CBL Antibody (YA3889)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Monkey, Rabbit |
| HY-P85077 | Cbl Antibody (YA4769) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Fragile Site 11b |
|
|
| Pseudo-Turner Syndrome |
|
|
| Noonan Syndrome And Noonan-Related Syndrome |
|
|
| Noonan Syndrome 1 |
|
|
| Rhabdomyosarcoma |
|
|
| Rasopathy |
|
|
| Aggressive Systemic Mastocytosis |
|
|
| Ovarian Germ Cell Cancer |
|
|
| Jacobsen Syndrome |
|
|
| Hematologic Cancer |
|
|
| Thanatophoric Dysplasia, Type I |
|
|
| Saethre-Chotzen Syndrome |
|
|
| Systemic Mastocytosis |
|
|
| Lymphoma |
|
|
| Wiskott-Aldrich Syndrome |
|
|
| Vitamin B12 Deficiency |
|
|
| Vitamin Metabolic Disorder |
|
|
| Brill-Zinsser Disease |
|
|
| Pernicious Anemia |
|
|
| Megaloblastic Anemia |
|
|
| Methylmalonic Acidemia |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Glioblastoma |
|
|
| Myelodysplastic Syndrome |
|
|
| Craniosynostosis |
|
|
| Myelodysplastic/Myeloproliferative Neoplasm |
|
|
| Ptosis |
|
|
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
|
| Deficiency Anemia |
|
|
| Breast Cancer |
|
|
| T-Cell Acute Lymphoblastic Leukemia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | CBL | MGD | MGI:88279 |
| Macaca mulatta | CBL | VGNC | VGNC:70554 |
| Rattus norvegicus | CBL | RGD | RGD:1561386 |
| Canis familiaris | CBL | VGNC | VGNC:38758 |
| Felis catus | CBL | VGNC | VGNC:108361 |
| Bos taurus | CBL | VGNC | VGNC:26808 |
| Others | CBL | NCBI |