Reactome | CBL G375fs*16 [cytosol]

CBL G375fs*16 [cytosol]

Stable Identifier

R-HSA-9706211

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

CBL E3 ubiquitin protein ligase , Signal transduction protein CBL, Proto-oncogene c-CBL, Casitas B-lineage lymphoma proto-oncogene

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Literature References

PubMed ID	Title	Journal	Year
17475912	Novel c-CBL and CBL-b ubiquitin ligase mutations in human acute myeloid leukemia Caligiuri, MA, Perrotti, D, Wei, M, Arnoczky, KJ, Wen, J, Whitman, SP, Bloomfield, CD, Wang, L, Marburger, TB, Yu, J, Briesewitz, R	Blood	2007

External Reference Information

External Reference

UniProt:P22681 CBL

Gene Names

CBL, CBL2, RNF55

Chain

chain:1-906

Reference Genes

BioGPS Gene:867 CBL

COSMIC (genes):CBL CBL

CTD Gene:867 CBL

dbSNP Gene:867 CBL

ENSEMBL:ENSG00000110395.7 CBL

HGNC:1541 CBL

KEGG Gene (Homo sapiens):867 CBL

Monarch:867 CBL

NCBI Gene:867 CBL

OMIM:165360 CBL

UCSC:P22681 CBL

Reference Transcript

RefSeq:NM_005188.3 CBL

Other Identifiers

0001230102

11724807_at

11724808_at

11724809_at

11724810_at

1568191_PM_at

1568191_at

16732296

206607_PM_at

206607_at

225231_PM_at

225231_at

225234_PM_at

225234_at

229010_PM_at

229010_at

243475_PM_at

243475_at

3352072

3352073

3352074

3352075

3352079

3352087

3352088

3352089

3352091

3352092

3352093

3352094

3352095

3352097

3352098

3352102

3352104

3352105

3352106

3352108

3352109

3352110

3352111

3352112

3352113

3352114

3352115

3352116

3352117

3352118

3352129

34416_at

47569_at

51017_at

55605_at

68600_at

7944493

867

A_14_P115221

A_14_P135012

A_14_P135711

A_14_P200324

A_23_P339191

A_23_P53226

A_33_P3256033

GE59823

GE87401

GE88439

GO:0000209

GO:0001784

GO:0002376

GO:0004842

GO:0005509

GO:0005515

GO:0005622

GO:0005737

GO:0005794

GO:0005829

GO:0005886

GO:0005925

GO:0005929

GO:0006511

GO:0006513

GO:0006974

GO:0007165

GO:0007166

GO:0007173

GO:0007175

GO:0008584

GO:0010332

GO:0012501

GO:0014068

GO:0014823

GO:0016020

GO:0016192

GO:0016567

GO:0016600

GO:0016740

GO:0017124

GO:0019221

GO:0019901

GO:0022414

GO:0023051

GO:0023052

GO:0030163

GO:0030424

GO:0030426

GO:0030971

GO:0032487

GO:0032991

GO:0033574

GO:0035635

GO:0036120

GO:0036211

GO:0036312

GO:0042059

GO:0042594

GO:0042995

GO:0043066

GO:0043226

GO:0043303

GO:0045121

GO:0045296

GO:0045471

GO:0045742

GO:0046677

GO:0046872

GO:0046875

GO:0048260

GO:0048471

GO:0048856

GO:0051865

GO:0061630

GO:0070997

GO:0090650

GO:0140096

GO:1901215

GO:1990090

GO:1990782

GO:2000583

HMNXSV003013983

Hs.196521.0.A1_3p_at

Hs.41324.0.A1_3p_at

Hs.90960.0.A1_3p_at

Hs.90960.0.A2_3p_at

Hs2.423675.1.A1_3p_at

ILMN_1716080

ILMN_2181968

PH_hs_0022112

PH_hs_0031180

TC11001089.hg

TC11002905.hg

X57110_s_at

g4885116_3p_at

Participates

as a candidate of

CBL mutants [cytosol] (Homo sapiens)

Other forms of this molecule

PolyUb,p-Y-CBL [cytosol]

CBL R420G [cytosol]

CBL R420Q [cytosol]

CBL Y371H [cytosol]

CBL H398Y [cytosol]

CBL P417A [cytosol]

CBL S376F [cytosol]

CBL del366-409 [cytosol]

CBL del366-477 [cytosol]

CBL R499L [cytosol]

CBL L380P [cytosol]

CBL L287R [cytosol]

CBL L380R [cytosol]

CBL G375P [cytosol]

CBL P417L [cytosol]

CBL H398Q [cytosol]

CBL P417R [cytosol]

CBL R499* [cytosol]

CBL H398R [cytosol]

CBL H398P [cytosol]

CBL R420* [cytosol]

CBL H398D [cytosol]

CBL Y371C [cytosol]

CBL G375S [cytosol]

CBL Y371D [cytosol]

CBL Y371S [cytosol]

CBL P417S [cytosol]

CBL H398N [cytosol]

CBL R420P [cytosol]

CBL Y371N [cytosol]

CBL R499Q [cytosol]

CBL R420L [cytosol]

CBL P417H [cytosol]

p-Y-CBL [cytosol]

PolyUb,p-Y700,Y731,Y774-CBL [cytosol]

p-Y700,Y731,Y774-CBL [cytosol]

p-Y371-CBL [plasma membrane]

p-Y371-CBL [cytosol]

CBL [cytosol]

Modified Residues

Name

Replacement of residues 376 to 392 by APHSNYVKYVLKMIRM

Disease

Name	Identifier	Synonyms
acute myeloid leukemia	DOID:9119	Leukemia, Myelocytic, acute, acute myeloblastic leukemia, acute myelogenous leukemia, AML - acute Myeloid Leukemia

Cross References

RefSeq

NP_005179.2

OpenTargets

ENSG00000110395

IntEnz

2.3.2.27

HPA

ENSG00000110395-CBL

GeneCards

P22681

Ensembl

ENST00000264033, ENSP00000264033, ENSG00000110395

PRO

P22681

Pharos - Targets

P22681

Orphanet

19464

HMDB Protein

HMDBP07558

PDB

3OB2, 2Y1M, 2K4D, 2JUJ, 5O76, 4GPL, 4A4B, 3BUO, 2OO9, 2Y1N, 6XAR, 4A4C, 3PLF, 3BUW, 6O03, 5HKW, 6O02, 3BUX, 2CBL, 5J3X, 1B47, 5HKY, 5HKX, 5HL0, 3BUN, 1YVH, 4A49, 3BUM, 5HKZ, 1FBV, 3OB1

Interactors (54)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q96B97 SH3KBP1	3	SH3KBP1 [plasma membrane] (R-HSA-182955) SH3KBP1 [cytosol] (R-HSA-182957) Ub-SH3KBP1 [cytosol] (R-HSA-182926)	0.973	27
UniProt:P00533 EGFR	20	p-6Y-EGFR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869138) p-5Y-EGFRvIII [plasma membrane] (R-HSA-1248649) EGFRvIII [plasma membrane] (R-HSA-1214162) p-6Y-EGFR E746_A750del;T790M [plasma membrane] (R-HSA-1182985) p-6Y-EGFR L858R;T790M [plasma membrane] (R-HSA-1182984) p-6Y-EGFR M766_A767insASV [plasma membrane] (R-HSA-1996343) p-6Y-EGFR D770_N771insNPH [plasma membrane] (R-HSA-1996342) p-6Y-EGFR V738_K739insKIPVAI [plasma membrane] (R-HSA-1996346) p-6Y-EGFR D770_N771insNPG [plasma membrane] (R-HSA-1996335) p-6Y-EGFR E746_A750del [plasma membrane] (R-HSA-1181214) p-6Y-EGFR L858R [plasma membrane] (R-HSA-1173211) p-6Y-EGFR G719S [plasma membrane] (R-HSA-1169417) p-6Y-EGFR L747_P753delinsS [plasma membrane] (R-HSA-1228038) p-6Y-EGFR L747_A750delinsP [plasma membrane] (R-HSA-1228044) p-6Y-EGFR L747_T751del [plasma membrane] (R-HSA-1228041) p-6Y-EGFR L747_S752del [plasma membrane] (R-HSA-1228040) p-6Y-EGFR L747_T751delinsP [plasma membrane] (R-HSA-1228042) p-6Y-EGFR E746_T751delinsA [plasma membrane] (R-HSA-1228037) p-6Y-EGFR E746_S752delinsV [plasma membrane] (R-HSA-1228039) p-6Y-EGFR L861Q [plasma membrane] (R-HSA-1177541)	0.964	26
UniProt:P62993 GRB2	1	GRB2 [cytosol] (R-HSA-8983328)	0.961	18
UniProt:P27986 PIK3R1	16	p-Y-PIK3R1 [cytosol] (R-HSA-9680647) PIK3R1 G376R [plasma membrane] (R-HSA-2399717) PIK3R1 K379E [plasma membrane] (R-HSA-8944148) PIK3R1 Y463_L466del [plasma membrane] (R-HSA-2399546) PIK3R1 H450_E451del [plasma membrane] (R-HSA-2399545) PIK3R1 R574_T576del [plasma membrane] (R-HSA-2399544) PIK3R1 D560Y [plasma membrane] (R-HSA-2399421) PIK3R1 N564D [plasma membrane] (R-HSA-2399427) PIK3R1 K459del [plasma membrane] (R-HSA-2399554) PIK3R1 N564K [plasma membrane] (R-HSA-2399431) PIK3R1 D560H [plasma membrane] (R-HSA-2399432) PIK3R1 R574I [plasma membrane] (R-HSA-2399536) PIK3R1 R574T [plasma membrane] (R-HSA-2399540) K63polyUb-PIK3R1 [cytosol] (R-HSA-3080572) PIK3R1 [cytosol] (R-HSA-74789) PIK3R1 [plasma membrane] (R-HSA-198365)	0.94	16
UniProt:P46108 CRK	1	CRK [cytosol] (R-HSA-2980677)	0.91	12
UniProt:P08581 MET	7	p-Y1349,Y1356-MET [plasma membrane] (R-HSA-6807032) p-Y1234,Y1235,Y1356-MET [plasma membrane] (R-HSA-6807014) MonoUb-K,p-Y1234,Y1235,Y1349,Y1356-MET [plasma membrane] (R-HSA-8875181) MonoUb-K,p-Y1003,4Y-MET [plasma membrane] (R-HSA-8875180) p-Y1003,4Y-MET [plasma membrane] (R-HSA-8874689) MET [plasma membrane] (R-HSA-419603) p-Y1234,Y1235,Y1349,Y1356-MET [plasma membrane] (R-HSA-6806973)	0.863	17
UniProt:O43597 SPRY2	8	p-Y55,Y227-SPRY2 [plasma membrane] (R-HSA-1295629) p-S111,S120-SPRY2 [cytosol] (R-HSA-1295590) SPRY2 [plasma membrane] (R-HSA-182924) SPRY2 [cytosol] (R-HSA-182949) p-Y55-SPRY2 [cytosol] (R-HSA-182950) p-S112,S115-SPRY2 [cytosol] (R-HSA-1295619) p-Y55,Y227-SPRY2 [plasma membrane] (R-HSA-934555) p-S112,S121-SPRY2 [plasma membrane] (R-HSA-934595)	0.856	17
UniProt:P12931 SRC	6	SRC [cytosol] (R-HSA-9628701) p-Y416-SRC [cytosol] (R-HSA-8964276) p-Y419-SRC [nucleoplasm] (R-HSA-8937690) MyrG-SRC [plasma membrane] (R-HSA-8876922) MyrG,p-Y530-SRC [plasma membrane] (R-HSA-377598) MyrG-p-Y419-SRC [plasma membrane] (R-HSA-1810408)	0.845	8
UniProt:P46109 CRKL	2	CRKL [cytosol] (R-HSA-354384) p-CRKL [cytosol] (R-HSA-9024730)	0.826	8
UniProt:P06241 FYN	6	p-S21,Y420-FYN [cytosol] (R-HSA-5218745) p-Y531-FYN [cytosol] (R-HSA-391819) MyrG2-PalmC3,6-FYN [plasma membrane] (R-HSA-9606873) p-Y420-FYN [cytosol] (R-HSA-391821) MyrG-p-Y420-FYN [plasma membrane] (R-HSA-1810410) FYN [cytosol] (R-HSA-200917)	0.798	6
UniProt:Q9Y5K6 CD2AP	1	CD2AP [cytosol] (R-HSA-373620)	0.796	7
UniProt:P62994 Grb2	3	Grb2 [cytosol] (R-RNO-55929) Grb2 [plasma membrane] (R-RNO-202993) Grb2 [cytosol] (R-RNO-74686)	0.78	5
UniProt:P29353 SHC1	5	SHC1 [cytosol] (R-HSA-74680) p-Y427-SHC1 [cytosol] (R-HSA-74684) p-Y349,Y350-SHC1 [cytosol] (R-HSA-180276) p-Y-SHC1 [cytosol] (R-HSA-162568) p-Y349,Y350,Y427-SHC1 [cytosol] (R-HSA-912321)	0.77	5
UniProt:P27348 YWHAQ	1	YWHAQ [cytosol] (R-HSA-1445116)	0.758	6
UniProt:P06239 LCK	4	p-Y394-LCK [plasma membrane] (R-HSA-8857940) p-Y505-LCK [plasma membrane] (R-HSA-202159) p-Y394-LCK [cytosol] (R-HSA-202308) LCK [cytosol] (R-HSA-167609)	0.75	4
UniProt:P43405 SYK	6	p-Y-SYK [cytosol] (R-HSA-9705732) p-Y-SYK [plasma membrane] (R-HSA-429432) SYK [plasma membrane] (R-HSA-139844) p-6Y-SYK [cytosol] (R-HSA-1861712) p-Y348-SYK [cytosol] (R-HSA-437953) SYK [cytosol] (R-HSA-58268)	0.743	7
UniProt:Q15811 ITSN1	1	ITSN1 [cytosol] (R-HSA-3006481)	0.729	12
UniProt:P07949 RET	2	RET [plasma membrane] (R-HSA-8853797) p-5Y-RET [plasma membrane] (R-HSA-8854162)	0.697	8
UniProt:O14492 SH2B2	2	SH2B2 [cytosol] (R-HSA-112195) p-Y629-SH2B2 [cytosol] (R-HSA-112184)	0.656	7
UniProt:Q04917 YWHAH	1	YWHAH [cytosol] (R-HSA-1445107)	0.643	3
UniProt:P31946 YWHAB	1	YWHAB [cytosol] (R-HSA-48888)	0.643	3
UniProt:O00459 PIK3R2	2	K63polyUb-PIK3R2 [cytosol] (R-HSA-3080554) PIK3R2 [cytosol] (R-HSA-74791)	0.621	4
UniProt:Q9C004 SPY4			0.611	9
UniProt:P62837 UBE2D2	4	Ub-C85-UBE2D2 [nucleoplasm] (R-HSA-8864153) Ub-C85-UBE2D2 [cytosol] (R-HSA-8864214) UBE2D2 [nucleoplasm] (R-HSA-8852067) UBE2D2 [cytosol] (R-HSA-934628)	0.611	4
UniProt:P43403 ZAP70	3	ZAP70 [cytosol] (R-HSA-202397) p-Y493-ZAP70 [cytosol] (R-HSA-202368) p-Y315,Y493-ZAP70 [cytosol] (R-HSA-202252)	0.611	3
UniProt:P16333 NCK1	2	NCK1 [plasma membrane] (R-HSA-202992) NCK1 [cytosol] (R-HSA-197954)	0.611	3
UniProt:P39688 Fyn	6	Fyn [cytosol] (R-MMU-420333) phospho-MyrG-p-Y420-FYN-1 [plasma membrane] (R-MMU-9032530) pFyn (420) [cytosol] (R-MMU-420335) pFyn(Y531) [cytosol] (R-MMU-420350) phospho-p-S21,Y420-FYN [cytosol] (R-MMU-5218745) MyrG,p-Y420-Fyn [plasma membrane] (R-MMU-9037733)	0.591	3
UniProt:Q14155 ARHGEF7	1	ARHGEF7 [cytosol] (R-HSA-430346)	0.591	9
UniProt:Q92569 PIK3R3	2	PIK3R3 [cytosol] (R-HSA-205223) K63polyUb-PIK3R3 [cytosol] (R-HSA-3080574)	0.57	4
UniProt:P07948 LYN	7	MyrG2-PalmC3-LYN [lysosomal membrane] (R-HSA-9707903) MyrG2-PalmC3-LYN [endocytic vesicle membrane] (R-HSA-9705728) LYN [plasma membrane] (R-HSA-197943) p-Y397-LYN [cytosol] (R-HSA-8942608) p-Y396-LYN [plasma membrane] (R-HSA-2454229) LYN [cytosol] (R-HSA-354251) MyrG2-PalmC3-LYN [plasma membrane] (R-HSA-9606875)	0.564	2
UniProt:P55085 F2RL1	1	F2RL1(37-397) [plasma membrane] (R-HSA-389418)	0.556	3
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	18
UniProt:P54253 ATX1			0.556	3
IntAct:EBI-25865403 EHD27213144			0.556	3
UniProt:Q13196 Q13196			0.544	2
UniProt:P63104 YWHAZ	2	YWHAZ [nucleoplasm] (R-HSA-450469) YWHAZ [cytosol] (R-HSA-206099)	0.527	2
UniProt:P61981 YWHAG	1	YWHAG [cytosol] (R-HSA-380312)	0.527	2
UniProt:P62258 YWHAE	1	YWHAE [cytosol] (R-HSA-194368)	0.527	2
UniProt:Q8IZP0-2 ABI1			0.524	3
UniProt:P08631-2 HCK			0.524	2
UniProt:F1SDV6	5	phospho-PLCG1 [plasma membrane] (R-SSC-1169084) phospho-PLCG1 [cytosol] (R-SSC-202357) PLCG1 [cytosol] (R-SSC-202320) PLCG1 [plasma membrane] (R-SSC-167682) phospho-PLCG1 [plasma membrane] (R-SSC-167679)	0.524	2
UniProt:P06240 Lck	5	phospho-p-Y394-LCK [plasma membrane] (R-MMU-8857940) Lck [cytosol] (R-MMU-539041) phospho-p-Y505-LCK [plasma membrane] (R-MMU-202159) phospho-p-Y394-LCK [cytosol] (R-MMU-202308) LCK [cytosol] (R-MMU-167609)	0.524	2
UniProt:Q96JA1 LRIG1	2	Ub-LRIG1 [plasma membrane] (R-HSA-8875434) LRIG1 [plasma membrane] (R-HSA-197745)	0.524	2
UniProt:P08487 PLCG1			0.518	3
UniProt:A0A0H3L6J6 A0A0H3L6J6			0.499	3
UniProt:Q99962 SH3GL2	4	SH3GL2 [cytosol] (R-HSA-182958) SH3GL2 [plasma membrane] (R-HSA-177495) SH3GL2 [clathrin-coated endocytic vesicle membrane] (R-HSA-2130629) SH3GL2 [Golgi membrane] (R-HSA-351189)	0.499	2
UniProt:Q12929 EPS8	1	EPS8 [cytosol] (R-HSA-9662382)	0.488	2
UniProt:P42229 STAT5A	6	STAT5A [cytosol] (R-HSA-380747) p-Y694-STAT5A [cytosol] (R-HSA-507936) p-Y694-STAT5A [nucleoplasm] (R-HSA-507995) p-Y649-STAT5A [cytosol] (R-HSA-8980151) p-STAT5A [nucleoplasm] (R-HSA-8982836) STAT5A [nucleoplasm] (R-HSA-9701901)	0.488	2
UniProt:Q9UKG1 APPL1	1	APPL1 [endosome membrane] (R-HSA-373630)	0.488	2
UniProt:P46108-2 CRK			0.488	2
UniProt:P27986-2 PIK3R1			0.488	2
UniProt:P40763 STAT3	12	Unfolded STAT3 [cytosol] (R-HSA-6813811) p-STAT3 [nucleoplasm] (R-HSA-8983188) p-STAT3 [cytosol] (R-HSA-8982823) AcK685- p-Y705,S727-STAT3 [nucleoplasm] (R-HSA-9701435) p-Y705,S727-STAT3 [nucleoplasm] (R-HSA-9701429) p-S727-STAT3 [cytosol] (R-HSA-198705) p-Y705-STAT3 [nucleoplasm] (R-HSA-9027589) p-Y705-STAT3 [cytosol] (R-HSA-8983130) p-Y705,S727-STAT3 [cytosol] (R-HSA-539048) STAT3 [cytosol] (R-HSA-539044) p-Y705-STAT3 [cytosol] (R-HSA-914048) p-Y705-STAT3 [nucleoplasm] (R-HSA-1112554)	0.488	2
UniProt:A9UF07 A9UF07			0.462	4
UniProt:P26450 Pik3r1	5	p-Y-Pik3r1 [cytosol] (R-MMU-9680631) Pik3r1 [cytosol] (R-MMU-3080572) Pi3k-p85 alpha [cytosol] (R-MMU-1295777) Pik3r1 [cytosol] (R-MMU-74789) Pik3r1 [plasma membrane] (R-MMU-198365)	0.462	2

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