| Tag | Content |
|---|---|
| UniProt Accession | CBL_HUMAN; P22681; |
| Entrez ID | 867 |
| GenBank Protein ID | |
| GenBank Nucleotide ID | |
| Protein Name | E3 ubiquitin-protein ligase CBL (EC 2.3.2.27) (Casitas B-lineage lymphoma proto-oncogene) (Proto-oncogene c-Cbl) (RING finger protein 55) (RING-type E3 ubiquitin transferase CBL) (Signal transduction protein CBL) |
| Gene Name | CBL; CBL2; RNF55 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Adapter protein that functions as a negative regulator of many signaling pathways that are triggered by activation of cell surface receptors. 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. Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, EGFR, CSF1R, EPHA8 and KDR and terminates signaling. Recognizes membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation. Participates in signal transduction in hematopoietic cells. Plays an important role in the regulation of osteoblast differentiation and apoptosis. Essential for osteoclastic bone resorption. The 'Tyr-731' phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3. |
| Sequence (Fasta) | MAGNVKKSSG AGGGSGSGGS GSGGLIGLMK DAFQPHHHHH HHLSPHPPGT VDKKMVEKCW 60 KLMDKVVRLC QNPKLALKNS PPYILDLLPD TYQHLRTILS RYEGKMETLG ENEYFRVFME 120 NLMKKTKQTI SLFKEGKERM YEENSQPRRN LTKLSLIFSH MLAELKGIFP SGLFQGDTFR 180 ITKADAAEFW RKAFGEKTIV PWKSFRQALH EVHPISSGLE AMALKSTIDL TCNDYISVFE 240 FDIFTRLFQP WSSLLRNWNS LAVTHPGYMA FLTYDEVKAR LQKFIHKPGS YIFRLSCTRL 300 GQWAIGYVTA DGNILQTIPH NKPLFQALID GFREGFYLFP DGRNQNPDLT GLCEPTPQDH 360 IKVTQEQYEL YCEMGSTFQL CKICAENDKD VKIEPCGHLM CTSCLTSWQE SEGQGCPFCR 420 CEIKGTEPIV VDPFDPRGSG SLLRQGAEGA PSPNYDDDDD ERADDTLFMM KELAGAKVER 480 PPSPFSMAPQ ASLPPVPPRL DLLPQRVCVP SSASALGTAS KAASGSLHKD KPLPVPPTLR 540 DLPPPPPPDR PYSVGAESRP QRRPLPCTPG DCPSRDKLPP VPSSRLGDSW LPRPIPKVPV 600 SAPSSSDPWT GRELTNRHSL PFSLPSQMEP RPDVPRLGST FSLDTSMSMN SSPLVGPECD 660 HPKIKPSSSA NAIYSLAARP LPVPKLPPGE QCEGEEDTEY MTPSSRPLRP LDTSQSSRAC 720 DCDQQIDSCT YEAMYNIQSQ APSITESSTF GEGNLAAAHA NTGPEESENE DDGYDVPKPP 780 VPAVLARRTL SDISNASSSF GWLSLDGDPT TNVTEGSQVP ERPPKPFPRR INSERKAGSC 840 QQGSGPAASA ATASPQLSSE IENLMSQGYS YQDIQKALVI AQNNIEMAKN ILREFVSISS 900 PAHVAT 907 |
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| Database | Annotation |
|---|---|
| Cancer Gene Census | AML, JMML, MDS |
| CTD (Curated) (count: 7) (view all) | MESH:D003456
; Cryptorchidism MESH:D002658 ; Developmental Disabilities MESH:D006130 ; Growth Disorders MESH:D007248 ; Infertility, Male MESH:D054429 ; Leukemia, Myelomonocytic, Juvenile OMIM:613563 ; NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA |
| HGMD (count: 1) | CE952434; Jacobsen syndrome; Repeat variations
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| GWASdb (count: 7) (view all) | rs4938638; Multiple complex diseases; Null
rs4938638; Personality dimensions; personality disorder rs12786104; Urinary metabolites; kidney disease rs4938642; Platelet counts; hematopoietic system disease|Human immunodeficiency virus infectious disease|coronary artery disease rs7113047; Personality dimensions; personality disorder rs2276083; Urinary metabolites; kidney disease |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 66) (view all) | 126 MENLMKKTKQTISLF dbPAF
141 KEGKERMYEENSQPR dbPAF 15 SSGAGGGSGSGGSGS dbPAF 17 GAGGGSGSGGSGSGG dbPAF 20 GGSGSGGSGSGGLIG dbPAF 22 SGSGGSGSGGLIGLM dbPAF |
| Acetylation (count: 7) (view all) | 134 KQTISLFKEGKERMY PLMD
197 WRKAFGEKTIVPWKS PLMD 203 EKTIVPWKSFRQALH PLMD 389 KICAENDKDVKIEPC PLMD 61 KMVEKCWKLMDKVVR PLMD 65 KCWKLMDKVVRLCQN PLMD |
| Ubiquitination (count: 6) | 105 ILSRYEGKMETLGEN PLMD
203 EKTIVPWKSFRQALH PLMD 424 PFCRCEIKGTEPIVV PLMD 521 SALGTASKAASGSLH PLMD 7 *MAGNVKKSSGAGGG PLMD 74 VRLCQNPKLALKNSP PLMD |