Reactome | SMAD3 E246* [cytosol]

SMAD3 E246* [cytosol]

Stable Identifier

R-HSA-9668776

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

SMAD3 E246TER, SMAD3 Glu246*, SMAD3 Glu246TER

Icon

Locations in the PathwayBrowser

Expand all

Disease (Homo sapiens)

- Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
  - Signaling by TGF-beta Receptor Complex in Cancer (Homo sapiens)
    - Loss of Function of SMAD2/3 in Cancer (Homo sapiens)
      - SMAD2/3 Phosphorylation Motif Mutants in Cancer (Homo sapiens)
        
        Activated TGFBR1 cannot phosphorylate SMAD2 and SMAD3 Phosphorylation Motif Mutants (Homo sapiens)
        
        TGFB1:p-TGFBR:ZFYVE9:SMAD2/3 Phosphorylation Motif Mutants [early endosome membrane] (Homo sapiens)
        
        SMAD2/3 Phosphorylation Motif Mutants [cytosol] (Homo sapiens)
        
        SMAD3 Phosphorylation Motif Mutants [cytosol] (Homo sapiens)
        
        SMAD3 E246* [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:P84022 SMAD3

Gene Names

SMAD3, MADH3

Chain

initiator methionine:1, chain:2-425

Reference Genes

BioGPS Gene:4088 SMAD3

COSMIC (genes):SMAD3 SMAD3

CTD Gene:4088 SMAD3

dbSNP Gene:4088 SMAD3

ENSEMBL:ENSG00000166949 SMAD3

HGNC:6769 SMAD3

KEGG Gene (Homo sapiens):4088 SMAD3

Monarch:4088 SMAD3

NCBI Gene:4088 SMAD3

OMIM:603109 SMAD3

UCSC:P84022 SMAD3

Reference Transcript

Other Identifiers

0000380136

0005860086

11718265_a_at

11718266_s_at

11726549_a_at

11751185_a_at

11754091_s_at

1433_g_at

1454_at

1950_s_at

1MHD

1MJS

1MK2

1OZJ

1U7F

205396_at

205397_x_at

205398_s_at

218284_at

2LAJ

2LB2

3598960

3598961

3598977

3598984

3598992

3598993

3598994

3598995

3598997

3598999

3599014

3599016

3599023

3599028

3599029

3599030

3599031

3599032

3599033

3599034

3599035

3599036

3599037

3599038

3599039

3599040

3599041

3599042

38944_at

4088

44841_at

44986_s_at

46386

51059_at

58763_at

5OD6

5ODG

5XOC

65983_at

67203

69409

7984364

8094

A0A024R5Z3

A_14_P107358

A_23_P48936

AAB18967

AAB80960

AAH50743

AAL68976

AB004930

AC012568

AC087482

AF025293

AF025294

AF025295

AF025296

AF025297

AF025298

AF025299

AF025300

AK290881

AK298139

AK300614

AK316017

BAA22032

BAF83570

BAH12731

BAH13315

BAH14388

BC050743

CAB008094

CAB069409

CCDS10222

CCDS45288

CCDS53950

CCDS53951

CH471082

EAW77788

EAW77789

EAW77790

ENSG00000166949

ENSP00000332973

ENSP00000401133

ENSP00000437757

ENSP00000445348

ENST00000327367

ENST00000327367.8

ENST00000439724

ENST00000439724.7

ENST00000537194

ENST00000537194.6

ENST00000540846

ENST00000540846.6

EntrezGene:4088

EntrezGene:SMAD3

g1673576_3p_s_at

g5174512_3p_s_at

g7661691_3p_at

GE56446

GE79350

GO:0000122

GO:0000228

GO:0000278

GO:0000790

GO:0000977

GO:0000978

GO:0000981

GO:0000987

GO:0001102

GO:0001223

GO:0001228

GO:0001501

GO:0001649

GO:0001657

GO:0001666

GO:0001701

GO:0001707

GO:0001756

GO:0001889

GO:0001947

GO:0002076

GO:0002376

GO:0002520

GO:0003013

GO:0003674

GO:0003677

GO:0003682

GO:0003690

GO:0003700

GO:0003712

GO:0003723

GO:0005160

GO:0005515

GO:0005518

GO:0005575

GO:0005622

GO:0005623

GO:0005634

GO:0005635

GO:0005637

GO:0005654

GO:0005667

GO:0005694

GO:0005737

GO:0005829

GO:0005886

GO:0006355

GO:0006357

GO:0006464

GO:0006810

GO:0006913

GO:0006919

GO:0006950

GO:0006955

GO:0007010

GO:0007049

GO:0007050

GO:0007155

GO:0007165

GO:0007179

GO:0007183

GO:0007267

GO:0007369

GO:0007492

GO:0008013

GO:0008134

GO:0008150

GO:0008219

GO:0008270

GO:0008283

GO:0008285

GO:0009056

GO:0009058

GO:0009790

GO:0009880

GO:0010628

GO:0010694

GO:0010718

GO:0015031

GO:0016202

GO:0016579

GO:0017015

GO:0017151

GO:0019049

GO:0019899

GO:0019901

GO:0019902

GO:0022607

GO:0023019

GO:0030154

GO:0030198

GO:0030308

GO:0030325

GO:0030335

GO:0030501

GO:0030512

GO:0030618

GO:0030878

GO:0031053

GO:0031490

GO:0031625

GO:0031962

GO:0032182

GO:0032332

GO:0032731

GO:0032909

GO:0032916

GO:0032924

GO:0032991

GO:0033689

GO:0034330

GO:0034641

GO:0035259

GO:0035326

GO:0038092

GO:0040007

GO:0040011

GO:0042060

GO:0042110

GO:0042177

GO:0042307

GO:0042592

GO:0042802

GO:0042803

GO:0043066

GO:0043130

GO:0043167

GO:0043226

GO:0043235

GO:0043425

GO:0043565

GO:0044212

GO:0044403

GO:0045216

GO:0045429

GO:0045599

GO:0045668

GO:0045893

GO:0045930

GO:0045944

GO:0046332

GO:0046872

GO:0048340

GO:0048589

GO:0048617

GO:0048646

GO:0048701

GO:0048856

GO:0048870

GO:0050678

GO:0050728

GO:0050776

GO:0050821

GO:0050927

GO:0051091

GO:0051098

GO:0051481

GO:0051496

GO:0051894

GO:0060039

GO:0060290

GO:0060395

GO:0061045

GO:0061767

GO:0065003

GO:0070306

GO:0070410

GO:0070412

GO:0070878

GO:0071141

GO:0071144

GO:0071345

GO:0071560

GO:0090263

GO:0097191

GO:0097296

GO:1901203

GO:1902895

GO:1903243

H0YKE2

H0YL71

H0YMP2

H0YMY0

H0YNV1

H3BP09

H3BVD1

HGNC:6769

HPA046386

HPA067203

Hs.211578.0.S3_3p_at

ILMN_1682738

IPR001132

IPR003619

IPR008984

IPR013019

IPR013790

IPR017855

IPR036578

MIM:603109

MIM:613795

NM_001145102

NM_001145103

NM_001145104

NM_005902

NP_001138574

NP_001138575

NP_001138576

NP_005893

PF03165

PF03166

PH_hs_0032513

PH_hs_0039929

SM00523

SM00524

SMAD3

SMAD3-201

SMAD3-202

SMAD3-203

SMAD3-204

TC15000622.hg

TC15002251.hg

U68019

U68019_at

U76622

UPI0000023A91

UPI000047B413

UPI0001915047

UPI000192B90A

XM_011521559

XM_011521560

XP_011519861

XP_011519862

Participant Of

hasCandidate

SMAD3 Phosphorylation Motif Mutants [cytosol]

Other forms of this molecule

Ub-SMAD3 [cytosol]

p-S423,S425-SMAD3 D258N [cytosol]

p-S423,S425-SMAD3 R268C [cytosol]

p-S423,S425-SMAD3 R268H [cytosol]

SMAD3 Q316* [cytosol]

SMAD3 Y384* [cytosol]

SMAD3 W326* [cytosol]

SMAD3 Q358* [cytosol]

SMAD3 Q322* [cytosol]

SMAD3 S425F [cytosol]

SMAD3 E383* [cytosol]

SMAD3 R368* [cytosol]

SMAD3 Y298* [cytosol]

SMAD3 S425C [cytosol]

2xADPRib-p-S423,S425-SMAD3 [nucleoplasm]

SMAD3 [nucleoplasm]

p-T179,S423,S425-SMAD3 [nucleoplasm]

SMAD3 [cytosol]

p-S423,S425-SMAD3 [nucleoplasm]

p-S423,S425-SMAD3 [cytosol]

Modified Residues

Name

L-glutamic acid 246 replaced with unknown

Coordinate

246

PsiMod

L-glutamic acid removal [MOD:01636]

A protein modification that effectively removes or replaces an L-glutamic acid.

Disease

Name	Identifier	Synonyms
large intestine cancer	5672	malignant Colorectal tumor, malignant neoplasm of large intestine, NOS, malignant tumor of large intestine (disorder), malignant neoplasm of colon with rectum, malignant neoplasm of large intestine NOS
cancer	162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

NP_001138574.1, NP_001138575.1, NP_001138576.1, NP_005893.1

COSMIC

COSM6023580

OpenTargets

ENSG00000166949

GeneCards

P84022

HPA

ENSG00000166949-SMAD3

Ensembl

ENSP00000445348, ENST00000327367, ENSG00000166949, ENSP00000401133, ENST00000537194, ENSP00000332973, ENSP00000437757, ENST00000439724, ENST00000540846

PRO

P84022

Orphanet

19833

PDB

5ODG, 1MHD, 5OD6, 1MJS, 5XOC, 1U7F, 2LAJ, 1MK2, 2LB2, 1OZJ

Interactors (56)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q13485 SMAD4	18	SMAD4 K428T [cytosol] (R-HSA-3311004) SMAD4 P356R [cytosol] (R-HSA-3310988) SMAD4 D351del [cytosol] (R-HSA-3310974) SMAD4 R361H [cytosol] (R-HSA-3310984) SMAD4 P356L [cytosol] (R-HSA-3310987) SMAD4 A406T [cytosol] (R-HSA-3311003) SMAD4 D351Y [cytosol] (R-HSA-3310970) SMAD4 D351H [cytosol] (R-HSA-3310965) SMAD4 R361C [cytosol] (R-HSA-3310983) SMAD4 D351G [cytosol] (R-HSA-3310967) SMAD4 R515T [cytosol] (R-HSA-3311008) SMAD4 [nucleoplasm] (R-HSA-177103) SMAD4 [cytosol] (R-HSA-170862) RibC-SMAD4 [nucleoplasm] (R-HSA-2187323) SMAD4 R361S [cytosol] (R-HSA-3310994) SMAD4 R361G [cytosol] (R-HSA-3310993) SMAD4 R515* [cytosol] (R-HSA-3311012) SMAD4 K428R [cytosol] (R-HSA-3311001)	0.979	33
UniProt:P12755 SKI	1	SKI [nucleoplasm] (R-HSA-173473)	0.842	11
UniProt:Q9H2G9 BLZF1	1	BLZF1 [Golgi membrane] (R-HSA-2422372)	0.805	9
UniProt:Q9H0M0 WWP1	1	WWP1 [cytosol] (R-HSA-976037)	0.805	9
UniProt:Q9HAU4 SMURF2	2	SMURF2 [cytosol] (R-HSA-173537) SMURF2 [nucleoplasm] (R-HSA-178202)	0.799	8
UniProt:O00308 WWP2	1	WWP2 [cytosol] (R-HSA-6807279)	0.779	7
UniProt:O95405 ZFYVE9			0.764	5
UniProt:P50222 MEOX2			0.718	6
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.69	5
UniProt:O75593 FOXH1	1	FOXH1 [nucleoplasm] (R-HSA-1225914)	0.675	4
UniProt:O43524 FOXO3	9	p-S215 FOXO3 [cytosol] (R-HSA-5687014) p-S215 FOXO3 [nucleoplasm] (R-HSA-5687010) FOXO3 [cytosol] (R-HSA-5687032) p-S43,S173,S294,S325-FOXO3 [nucleoplasm] (R-HSA-8870627) p-S43,S173,S294,S325-FOXO3 [cytosol] (R-HSA-8870560) Ac-K242,K259,K271,K290,K569-FOXO3 [nucleoplasm] (R-HSA-9620514) FOXO3 [nucleoplasm] (R-HSA-199305) p-T32,S253,S315-FOXO3 [nucleoplasm] (R-HSA-199289) p-T32,S253,S315-FOXO3 [cytosol] (R-HSA-9614413)	0.667	5
UniProt:Q08117 TLE5	1	AES [nucleoplasm] (R-HSA-4648963)	0.666	4
UniProt:P84022 SMAD3	21	p-S423,S425-SMAD3 D258N [cytosol] (R-HSA-3315470) Ub-SMAD3 [cytosol] (R-HSA-6782830) p-S423,S425-SMAD3 R268C [cytosol] (R-HSA-3315075) p-S423,S425-SMAD3 R268H [cytosol] (R-HSA-3315080) SMAD3 Q316* [cytosol] (R-HSA-9668765) SMAD3 Y384* [cytosol] (R-HSA-9668782) SMAD3 W326* [cytosol] (R-HSA-9668766) SMAD3 E246* [cytosol] (R-HSA-9668776) SMAD3 Q358* [cytosol] (R-HSA-9668772) SMAD3 Q322* [cytosol] (R-HSA-9668773) SMAD3 S425F [cytosol] (R-HSA-8944158) SMAD3 E383* [cytosol] (R-HSA-9668775) SMAD3 R368* [cytosol] (R-HSA-9668768) SMAD3 Y298* [cytosol] (R-HSA-9668769) SMAD3 S425C [cytosol] (R-HSA-3308499) 2xADPRib-p-S423,S425-SMAD3 [nucleoplasm] (R-HSA-2187326) SMAD3 [nucleoplasm] (R-HSA-206150) p-T179,S423,S425-SMAD3 [nucleoplasm] (R-HSA-2176471) SMAD3 [cytosol] (R-HSA-170855) p-S423,S425-SMAD3 [nucleoplasm] (R-HSA-177104) p-S423,S425-SMAD3 [cytosol] (R-HSA-171184)	0.656	3
UniProt:Q64729	3	Tgfbr1 [plasma membrane] (R-MMU-170839) Tgfbr1 [plasma membrane] (R-MMU-8869461) phospho-Tgfbr1 [plasma membrane] (R-MMU-170849)	0.576	6
UniProt:Q9BZ29 DOCK9	1	DOCK9 [cytosol] (R-HSA-1012981)	0.576	3
UniProt:Q15796 SMAD2	27	p-S465,S467-SMAD2 P305L [cytosol] (R-HSA-3315471) Ub-SMAD2 [cytosol] (R-HSA-6782774) p-S465,S467-SMAD2 D300A [cytosol] (R-HSA-3315064) p-S465,S467-SMAD2 D300N [cytosol] (R-HSA-3315066) p-S465,S467-SMAD2 A354T [cytosol] (R-HSA-3315474) p-S465,S467-SMAD2 P305Q [cytosol] (R-HSA-3315070) p-S465,S467-SMAD2 D300V [cytosol] (R-HSA-3315067) SMAD2 S464* [cytosol] (R-HSA-3304362) SMAD2 W422* [cytosol] (R-HSA-9668736) SMAD2 S308* [cytosol] (R-HSA-9668732) SMAD2 R427* [cytosol] (R-HSA-9668733) SMAD2 W448* [cytosol] (R-HSA-9668734) SMAD2 S464L [cytosol] (R-HSA-3304383) SMAD2 C463* [cytosol] (R-HSA-9668735) SMAD2 R321* [cytosol] (R-HSA-9668728) SMAD2 S296* [cytosol] (R-HSA-9668729) SMAD2 S306* [cytosol] (R-HSA-9668730) SMAD2 Q455* [cytosol] (R-HSA-9668731) SMAD2 E439* [cytosol] (R-HSA-9668724) SMAD2 L315* [cytosol] (R-HSA-9668725) SMAD2 S467P [cytosol] (R-HSA-3304375) SMAD2 Q429* [cytosol] (R-HSA-9668727) SMAD2 [nucleoplasm] (R-HSA-3006352) p-T220,S465,S467-SMAD2 [nucleoplasm] (R-HSA-3009189) SMAD2 [cytosol] (R-HSA-3006353) p-S465,S467-SMAD2 [cytosol] (R-HSA-3009186) p-S465,S467-SMAD2 [nucleoplasm] (R-HSA-3009185)	0.573	2
UniProt:Q99814 EPAS1	5	2xHP-EPAS1 [nucleoplasm] (R-HSA-1234151) HN-EPAS1 [cytosol] (R-HSA-1234112) 2xHP-EPAS1 [cytosol] (R-HSA-1234149) EPAS1 [cytosol] (R-HSA-1234119) EPAS1 [nucleoplasm] (R-HSA-452560)	0.573	2
UniProt:Q93009 USP7	2	USP7 [nucleoplasm] (R-HSA-3215278) USP7 [cytosol] (R-HSA-8853511)	0.573	2
UniProt:Q9Y2U8 LEMD3	1	LEMD3 [nuclear envelope] (R-HSA-2993886)	0.564	2
UniProt:P10070 GLI2	11	p4S-GLI2 [ciliary base] (R-HSA-5610487) ub-2p-GLI2 [nucleoplasm] (R-HSA-5635059) p8S-GLI2 [ciliary base] (R-HSA-5610494) p11S-GLI2 [ciliary base] (R-HSA-5610471) GLI2 [ciliary tip] (R-HSA-5610363) GLI2 [ciliary base] (R-HSA-5610361) 2p-GLI2 [nucleoplasm] (R-HSA-5635055) p-GLI2 [nucleoplasm] (R-HSA-5635047) p-GLI2 [ciliary tip] (R-HSA-5635044) GLI2 [cytosol] (R-HSA-445451) ub-p11S-GLI2 [ciliary base] (R-HSA-5610501)	0.558	4
UniProt:P46934-3 NEDD4			0.556	3
UniProt:Q86YD7 F90A1			0.556	3
UniProt:P20618 PSMB1	5	PSMB1 [extracellular region] (R-HSA-6806477) PSMB1 [secretory granule lumen] (R-HSA-6803287) PSMB1 [ficolin-1-rich granule lumen] (R-HSA-6803340) PSMB1 [nucleoplasm] (R-HSA-174347) PSMB1 [cytosol] (R-HSA-68738)	0.556	3
UniProt:Q8N684-3 CPSF7			0.556	3
UniProt:P0C264 SBK3			0.556	3
UniProt:E9PSE9 E9PSE9			0.556	3
UniProt:Q8IXK0-5 PHC2			0.556	3
IntAct:EBI-16439879 CCSB ORF ID			0.556	3
UniProt:Q08117-2 TLE5			0.556	3
UniProt:O43186 CRX			0.556	3
IntAct:EBI-11522976 CCDC33			0.556	3
UniProt:Q8WW24 TEKT4			0.556	3
UniProt:Q8N684 CPSF7	1	CPSF7 [nucleoplasm] (R-HSA-72012)	0.556	3
UniProt:Q8IXK0 PHC2	1	PHC2 [nucleoplasm] (R-HSA-389112)	0.556	3
IntAct:EBI-10171584 80125			0.556	3
UniProt:Q6NX45 ZNF774	1	ZNF774 [nucleoplasm] (R-HSA-3110232)	0.556	3
UniProt:P15822 ZEP1			0.553	2
UniProt:O15397 IPO8	2	IPO8 [cytosol] (R-HSA-5578740) IPO8 [nucleoplasm] (R-HSA-5578747)	0.544	2
UniProt:Q99836 MYD88	9	MyD88 E52del [cytosol] (R-HSA-5602451) MyD88 R196C [cytosol] (R-HSA-5602329) MyD88 L93P [cytosol] (R-HSA-5602612) MyD88 S34Y [cytosol] (R-HSA-5602521) MyD88 E65del [cytosol] (R-HSA-5602598) MYD88 [cytosol] (R-HSA-193946) MYD88 [plasma membrane] (R-HSA-937017) MYD88 [cytosol] (R-HSA-166059) MYD88 [endosome membrane] (R-HSA-975123)	0.543	3
UniProt:Q13501 SQSTM1	2	SQSTM1 [cytosol] (R-HSA-193937) SQSTM1 [nucleoplasm] (R-HSA-210961)	0.543	3
UniProt:P51141 Dvl1	4	Dvl1 [cytosol] (R-MMU-1504179) Dvl1 [cytosol] (R-MMU-4641157) phospho-Dvl1 [cytosol] (R-MMU-201700) phospho-Dvl1 [cytosol] (R-MMU-3772396)	0.527	2
UniProt:P98082 DAB2	3	DAB2 [lysosomal membrane] (R-HSA-2980807) DAB2 [cytosol] (R-HSA-8862456) DAB2 [plasma membrane] (R-HSA-2980808)	0.524	3
UniProt:Q9NYA4 MTMR4	2	MTMR4 [cytosol] (R-HSA-1604658) MTMR4 [early endosome membrane] (R-HSA-2187404)	0.524	2
UniProt:Q9H2X0 CHRD			0.508	2
UniProt:Q9BZL4 PP12C			0.508	2
UniProt:Q96EP0 RNF31	1	RNF31 [cytosol] (R-HSA-5212660)	0.508	2
UniProt:Q9Y3Q8 T22D4			0.508	2
UniProt:Q5D1E8 ZC12A			0.508	2
UniProt:Q16822 PCK2	1	PCK2 [mitochondrial matrix] (R-HSA-372815)	0.508	2
UniProt:Q9BYW2 SETD2	1	SETD2 [nucleoplasm] (R-HSA-1183220)	0.508	2
UniProt:P17844 DDX5	3	SUMO2-K53-DDX5 [nucleoplasm] (R-HSA-3900186) DDX5 [nucleoplasm] (R-HSA-3900136) SUMO1-K53-DDX5 [nucleoplasm] (R-HSA-3900041)	0.499	2
UniProt:Q05066 SRY	1	SRY [nucleoplasm] (R-HSA-5627706)	0.499	3
UniProt:P23142 FBLN1	1	FBLN1 [extracellular region] (R-HSA-2161389)	0.488	2
UniProt:Q93062-3 RBPMS			0.488	2
UniProt:Q16665 HIF1A	7	2xHP-HIF1A [nucleoplasm] (R-HSA-1234105) HN-HIF1A [cytosol] (R-HSA-1234110) 2xHP-HIF1A [cytosol] (R-HSA-1234131) p-Y565,S797-HIF1A [cytosol] (R-HSA-9634700) p-Y565-HIF1A [cytosol] (R-HSA-8857584) HIF1A [cytosol] (R-HSA-1234102) HIF1A [nucleoplasm] (R-HSA-1234135)	0.463	6
UniProt:Q9NZH6 IL37	6	IL37(?-218) [cytosol] (R-HSA-9008584) IL37 [extracellular region] (R-HSA-8848334) IL37(1-?) [cytosol] (R-HSA-9008602) IL37 [cytosol] (R-HSA-9008596) IL37(?-218) [nucleoplasm] (R-HSA-9008702) IL37(?-218) [extracellular region] (R-HSA-9008607)	0.463	2

Cite Us!