Reactome | SMAD4 Q256* [cytosol]

SMAD4 Q256* [cytosol]

Stable Identifier

R-HSA-9675173

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

SMAD4 Gln256*, SMAD4 Q256TER, SMAD4 Gln256TER

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External Reference Information

External Reference

UniProt:Q13485 SMAD4

Gene Names

SMAD4, DPC4, MADH4

Chain

chain:1-552

Reference Genes

BioGPS Gene:4089 SMAD4

COSMIC (genes):SMAD4 SMAD4

CTD Gene:4089 SMAD4

dbSNP Gene:4089 SMAD4

ENSEMBL:ENSG00000141646 SMAD4

ENSEMBL_homo_sapiens_GENE:ENSG00000141646.16 SMAD4

HGNC:6770 SMAD4

KEGG Gene (Homo sapiens):4089 SMAD4

Monarch:4089 SMAD4

NCBI Gene:4089 SMAD4

OMIM:600993 SMAD4

UCSC:Q13485 SMAD4

Reference Transcript

RefSeq:NM_005359.5 SMAD4

Other Identifiers

11725360_a_at

11725361_s_at

11725362_x_at

11725363_s_at

11744679_a_at

11750827_a_at

11753117_a_at

16852354

202526_PM_at

202526_at

202527_PM_s_at

202527_s_at

235725_PM_at

235725_at

36953_at

3788304

3788305

3788306

3788307

3788308

3788315

3788316

3788318

3788320

3788324

3788327

3788328

3788330

3788335

3788337

3788344

3788346

3788347

3788348

3788349

3788350

3788351

3788353

3788355

3788357

3788358

3788359

4089

46885_at

509_at

510_g_at

57902_at

58962_at

74813_at

8021228

A_14_P134632

A_19_P00323665

A_19_P00804817

A_19_P00812250

A_23_P27346

GE887174

GO:0000122

GO:0000785

GO:0000976

GO:0000977

GO:0000978

GO:0000981

GO:0001222

GO:0001223

GO:0001228

GO:0001541

GO:0001649

GO:0001658

GO:0001666

GO:0001701

GO:0001702

GO:0001822

GO:0001837

GO:0003012

GO:0003148

GO:0003161

GO:0003190

GO:0003198

GO:0003220

GO:0003251

GO:0003279

GO:0003360

GO:0003677

GO:0003682

GO:0003700

GO:0005515

GO:0005518

GO:0005634

GO:0005654

GO:0005667

GO:0005694

GO:0005737

GO:0005813

GO:0005815

GO:0005829

GO:0005856

GO:0006351

GO:0006355

GO:0006357

GO:0006366

GO:0006879

GO:0007010

GO:0007179

GO:0007283

GO:0007338

GO:0007369

GO:0007411

GO:0007492

GO:0007498

GO:0008092

GO:0008283

GO:0008285

GO:0008584

GO:0008585

GO:0009653

GO:0009952

GO:0010614

GO:0010628

GO:0010631

GO:0010666

GO:0010718

GO:0012501

GO:0014033

GO:0014898

GO:0017015

GO:0022414

GO:0023052

GO:0030154

GO:0030163

GO:0030198

GO:0030308

GO:0030325

GO:0030509

GO:0030511

GO:0031005

GO:0032444

GO:0032525

GO:0032909

GO:0032924

GO:0032991

GO:0033686

GO:0035556

GO:0036302

GO:0042118

GO:0042127

GO:0042177

GO:0042733

GO:0042802

GO:0042803

GO:0043199

GO:0043226

GO:0043565

GO:0044877

GO:0045892

GO:0045893

GO:0045944

GO:0046332

GO:0046872

GO:0046881

GO:0048382

GO:0048589

GO:0048663

GO:0048665

GO:0048729

GO:0048733

GO:0048856

GO:0048859

GO:0048870

GO:0050886

GO:0051797

GO:0055065

GO:0060065

GO:0060391

GO:0060395

GO:0060412

GO:0060956

GO:0061040

GO:0061629

GO:0062009

GO:0070102

GO:0070371

GO:0070373

GO:0070411

GO:0070412

GO:0071141

GO:0071144

GO:0071333

GO:0071559

GO:0071560

GO:0071773

GO:0072133

GO:0072134

GO:0072520

GO:0090090

GO:0090575

GO:0097191

GO:0140110

GO:1901203

GO:1902895

GO:1905305

HMNXSV003050274

Hs.50438.0.A1_3p_at

Hs.75862.0.S2_3p_at

ILMN_1741477

ILMN_1842785

PH_hs_0004380

TC18000998.hg

U44378_at

g4885456_3p_a_at

Participates

as a candidate of

SMAD4 MH2 domain mutants [cytosol] (Homo sapiens)

Other forms of this molecule

SMAD4 P356R [cytosol]

SMAD4 K428T [cytosol]

SMAD4 D351del [cytosol]

SMAD4 R361H [cytosol]

SMAD4 P356L [cytosol]

SMAD4 A406T [cytosol]

SMAD4 D351Y [cytosol]

SMAD4 D351H [cytosol]

SMAD4 R361C [cytosol]

SMAD4 D351G [cytosol]

SMAD4 R515T [cytosol]

SMAD4 G352* [cytosol]

SMAD4 S178* [cytosol]

SMAD4 G477* [cytosol]

SMAD4 G473* [cytosol]

SMAD4 S144* [cytosol]

SMAD4 E538* [cytosol]

SMAD4 E390* [cytosol]

SMAD4 S154* [cytosol]

SMAD4 E330* [cytosol]

SMAD4 E417* [cytosol]

SMAD4 Y195* [cytosol]

SMAD4 E108* [cytosol]

SMAD4 S343* [cytosol]

SMAD4 E520* [cytosol]

SMAD4 G510* [cytosol]

SMAD4 G358* [cytosol]

SMAD4 E175* [cytosol]

SMAD4 E307* [cytosol]

SMAD4 E53* [cytosol]

SMAD4 S171* [cytosol]

SMAD4 G30* [cytosol]

SMAD4 G168* [cytosol]

SMAD4 Q366* [cytosol]

SMAD4 R135* [cytosol]

SMAD4 L146* [cytosol]

SMAD4 L440* [cytosol]

SMAD4 Q183* [cytosol]

SMAD4 Q289* [cytosol]

SMAD4 Q248* [cytosol]

SMAD4 Q249* [cytosol]

SMAD4 Q239* [cytosol]

SMAD4 Q245* [cytosol]

SMAD4 Q224* [cytosol]

SMAD4 W509* [cytosol]

SMAD4 Q311* [cytosol]

SMAD4 W398* [cytosol]

SMAD4 Q250* [cytosol]

SMAD4 Q410* [cytosol]

SMAD4 Q534* [cytosol]

SMAD4 Q83* [cytosol]

SMAD4 Q448* [cytosol]

SMAD4 K428R [cytosol]

SMAD4 Q455* [cytosol]

SMAD4 R445* [cytosol]

SMAD4 Q442* [cytosol]

SMAD4 Q516* [cytosol]

SMAD4 C443* [cytosol]

SMAD4 Q334* [cytosol]

SMAD4 R361G [cytosol]

SMAD4 L172* [cytosol]

SMAD4 K122* [cytosol]

SMAD4 R361S [cytosol]

SMAD4 Y430* [cytosol]

SMAD4 Y260* [cytosol]

SMAD4 Y95* [cytosol]

SMAD4 Y322* [cytosol]

SMAD4 E321* [cytosol]

SMAD4 Y412* [cytosol]

SMAD4 R515* [cytosol]

SMAD4 Y328* [cytosol]

SMAD4 E33* [cytosol]

SMAD4 Y513* [cytosol]

SMAD4 E526* [cytosol]

SMAD4 S138* [cytosol]

SMAD4 Y276* [cytosol]

SMAD4 E205* [cytosol]

SMAD4 E49* [cytosol]

SMAD4 W101* [cytosol]

SMAD4 W268* [cytosol]

SMAD4 Q116* [cytosol]

SMAD4 S242* [cytosol]

SMAD4 W302* [cytosol]

SMAD4 W524* [cytosol]

SMAD4 [nucleoplasm]

SMAD4 [cytosol]

Ub-SMAD4 [cytosol]

Ub-SMAD4 [nucleoplasm]

RibC-SMAD4 [nucleoplasm]

Modified Residues

Name

Nonsense mutation at L-glutamine 256

Coordinate

256

PsiMod

L-glutamine removal [MOD:01637]

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

Disease

Name	Identifier	Synonyms
lung adenocarcinoma	DOID:3910	nonsmall cell adenocarcinoma
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
pancreatic cancer	DOID:1793	malignant neoplasm of tail of pancreas, pancreatic tumor, Ca body of pancreas, pancreas neoplasm, malignant neoplasm of body of pancreas, pancreatic neoplasm, malignant tumor of body of pancreas (disorder), Ca tail of pancreas (disorder), malignant neoplasm of head of pancreas, Ca tail of pancreas, malignant tumor of tail of pancreas (disorder), neoplasm of pancreas (disorder), Ca head of pancreas, Ca body of pancreas (disorder)
head and neck squamous cell carcinoma	DOID:5520	carcinoma of the head and neck, squamous cell carcinoma of the head and neck
pancreatic ductal adenocarcinoma	DOID:3498	ductal adenocarcinoma of the pancreas
large intestine cancer	DOID: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

Cross References

RefSeq

NP_005350.1

COSMIC

COSM6024538, COSV61686540

OpenTargets

ENSG00000141646

GeneCards

Q13485

HPA

ENSG00000141646-SMAD4

Ensembl

ENST00000398417, ENSP00000381452, ENSG00000141646, ENST00000342988, ENSP00000341551

PRO

Q13485

Pharos - Targets

Q13485

Orphanet

15524

HMDB Protein

HMDBP14469

PDB

1U7V, 1MR1, 5C4V, 1U7F, 1DD1, 5MEY, 5UWU, 5MF0, 1YGS, 1G88, 5MEZ, 6YIC

Interactors (37)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P84022 SMAD3	20	Ub-SMAD3 [cytosol] (R-HSA-6782830) p-S423,S425-SMAD3 D258N [cytosol] (R-HSA-3315470) 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) p-S208-SMAD3 [cytosol] (R-HSA-9731114) SMAD3 [nucleoplasm] (R-HSA-206150) 2xADPRib-p-S423,S425-SMAD3 [nucleoplasm] (R-HSA-2187326) Ub,p-T179,S423,S425-SMAD3 [nucleoplasm] (R-HSA-9773841) p-T179,S423,S425-SMAD3 [nucleoplasm] (R-HSA-2176471)	0.98	35
UniProt:Q15796 SMAD2	20	Ub-SMAD2 [cytosol] (R-HSA-6782774) p-S465,S467-SMAD2 P305L [cytosol] (R-HSA-3315471) 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)	0.965	24
UniProt:Q15797 SMAD1	4	Ub-SMAD1 [cytosol] (R-HSA-6782768) SMAD1 [cytosol] (R-HSA-201468) p-S463,S465-SMAD1 [cytosol] (R-HSA-201464) p-S463,S465-SMAD1 [nucleoplasm] (R-HSA-201483)	0.946	12
UniProt:P12755 SKI	1	SKI [nucleoplasm] (R-HSA-173473)	0.937	15
UniProt:P63279 UBE2I	9	monoSUMO1-K14-UBE2I [nucleoplasm] (R-HSA-4085358) UBE2I [nuclear envelope] (R-HSA-4655408) SUMO2-C93-UBE2I [cytosol] (R-HSA-4656944) SUMO3-C93-UBE2I [nucleoplasm] (R-HSA-3730629) UBE2I [cytosol] (R-HSA-4655342) SUMO1-C93-UBE2I [cytosol] (R-HSA-4656909) SUMO2-C93-UBE2I [nucleoplasm] (R-HSA-3730619) SUMO1-C93-UBE2I [nucleoplasm] (R-HSA-3730617) UBE2I [nucleoplasm] (R-HSA-912481)	0.835	6
UniProt:P61968 LMO4			0.83	8
UniProt:Q9NPI6 DCP1A	1	DCP1A [cytosol] (R-HSA-430043)	0.779	5
UniProt:Q9UPN9 TRIM33	1	TRIM33 [nucleoplasm] (R-HSA-870522)	0.748	6
UniProt:O15198 SMAD9	3	SMAD9 [cytosol] (R-HSA-201478) p-S465,S467-SMAD9 [nucleoplasm] (R-HSA-201474) p-S465,S467-SMAD9 [cytosol] (R-HSA-201441)	0.748	4
UniProt:O43524 FOXO3	11	p-S215 FOXO3 [nucleoplasm] (R-HSA-5687010) p-S215 FOXO3 [cytosol] (R-HSA-5687014) 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) FOXO3(?-673) [mitochondrial matrix] (R-HSA-9841824) Ac-K271,K290-FOXO3(?-673) [mitochondrial matrix] (R-HSA-9841849) Ac-K242,K259,K271,K290,K569-FOXO3 [nucleoplasm] (R-HSA-9620514) p-T32,S253,S315-FOXO3 [cytosol] (R-HSA-9614413) p-T32,S253,S315-FOXO3 [nucleoplasm] (R-HSA-199289) FOXO3 [nucleoplasm] (R-HSA-199305)	0.743	9
UniProt:Q8WWW0 RASF5			0.742	5
UniProt:Q9UBE8 NLK	3	NLK [cytosol] (R-HSA-4411330) p-T298-NLK [cytosol] (R-HSA-4411398) p-T298-NLK [nucleoplasm] (R-HSA-4411376)	0.719	6
UniProt:P23769 GATA2	1	GATA2 [nucleoplasm] (R-HSA-996735)	0.683	5
UniProt:Q01844 EWS			0.668	3
UniProt:P12757 SKIL	1	SKIL [nucleoplasm] (R-HSA-2186596)	0.659	5
UniProt:P17676 CEBPB	3	p-T235, S321-CEBPB [nucleoplasm] (R-HSA-3857339) p-T235-CEBPB [nucleoplasm] (R-HSA-3857343) CEBPB [nucleoplasm] (R-HSA-381378)	0.609	2
UniProt:Q92988 DLX4			0.602	5
UniProt:P70398	1	USP9X [cytosol] (R-MMU-870499)	0.602	4
UniProt:P24468 NR2F2	1	NR2F2 [nucleoplasm] (R-HSA-1183002)	0.591	4
UniProt:Q15915 ZIC1	1	ZIC1 [nucleoplasm] (R-HSA-9731648)	0.556	3
UniProt:O15198-2 SMAD9			0.556	3
UniProt:P43268-3 ETV4			0.556	3
UniProt:Q8NI38 IKBD			0.556	3
UniProt:P05067 APP	20	APP(18-770) [trans-Golgi network membrane] (R-HSA-5229136) APP-C99 [cytosol] (R-HSA-9617603) APP(18-770) [extracellular region] (R-HSA-49335) APP(18-770) [platelet alpha granule lumen] (R-HSA-139835) APP(18-687) [extracellular region] (R-HSA-9010033) APP(688-770) [plasma membrane] (R-HSA-9010028) APP(18-770) [Golgi lumen] (R-HSA-8871509) APP(18-770) [plasma membrane] (R-HSA-9010038) APP(18-671) [endosome lumen] (R-HSA-5693003) APP(714-770) [endosome lumen] (R-HSA-6783325) APP(712-770) [endosome lumen] (R-HSA-6783331) APP(672-770) [endosome lumen] (R-HSA-9010082) APP(672-713) [endosome lumen] (R-HSA-5692993) APP(672-711) [endosome lumen] (R-HSA-6783333) APP(18-770) [endosome lumen] (R-HSA-5229077) p-APP [endoplasmic reticulum lumen] (R-HSA-8957012) APP [endoplasmic reticulum lumen] (R-HSA-8956696) APP(672-711) [extracellular region] (R-HSA-976740) APP(672-711) [cytosol] (R-HSA-877188) APP(672-713) [extracellular region] (R-HSA-879340)	0.556	3
UniProt:Q08117-2 TLE5			0.556	3
UniProt:O75925 PIAS1	1	PIAS1 [nucleoplasm] (R-HSA-877307)	0.553	2
UniProt:Q6VMQ6 ATF7IP	2	me3-K16-ATF7IP [nucleoplasm] (R-HSA-9844104) ATF7IP [nucleoplasm] (R-HSA-3301918)	0.553	2
UniProt:Q13485 SMAD4	20	SMAD4 P356R [cytosol] (R-HSA-3310988) SMAD4 K428T [cytosol] (R-HSA-3311004) 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 G352* [cytosol] (R-HSA-9678445) SMAD4 S178* [cytosol] (R-HSA-9675630) SMAD4 G477* [cytosol] (R-HSA-9678447) SMAD4 G473* [cytosol] (R-HSA-9678440) SMAD4 S144* [cytosol] (R-HSA-9675625) SMAD4 E538* [cytosol] (R-HSA-9675626) SMAD4 E390* [cytosol] (R-HSA-9675620) SMAD4 S154* [cytosol] (R-HSA-9675621) SMAD4 E330* [cytosol] (R-HSA-9675622)	0.547	3
UniProt:SMAD7 ENSG00000101665			0.527	3
UniProt:Q969G2 LHX4	1	LHX4 [nucleoplasm] (R-HSA-9010585)	0.527	3
UniProt:Q9UI36 DACH1			0.524	3
UniProt:P98177 FOXO4	8	FOXO4 [nucleoplasm] (R-HSA-5690183) p-T32,S197,S262-FOXO4 [nucleoplasm] (R-HSA-199314) p-T32,S197,S262-FOXO4 [cytosol] (R-HSA-9614415) SOH-C481-FOXO4 [nucleoplasm] (R-HSA-9617655) CREBBP-S-S-FOXO4 [nucleoplasm] (R-HSA-9617679) EP300-S-S-FOXO4 [nucleoplasm] (R-HSA-9617681) Ac-K-FOXO4 [nucleoplasm] (R-HSA-9617761) PolyUb-FOXO4 [nucleoplasm] (R-HSA-6782501)	0.524	2
UniProt:Q9Y297 BTRC	2	BTRC [cytosol] (R-HSA-174237) BTRC [nucleoplasm] (R-HSA-3361753)	0.524	2
IntAct:EBI-11165649 P21			0.499	2
UniProt:P70056 FOXH1			0.499	2
UniProt:P03126 VE6			0.488	2
UniProt:Q96F07 CYFIP2	1	CYFIP2 [cytosol] (R-HSA-1671642)	0.488	2

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