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SMAD4 Q245* [cytosol]
Stable Identifier
R-HSA-9675175
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
SMAD4 Gln245*, SMAD4 Q245TER, SMAD4 Gln245TER
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 SMAD4 in Cancer (Homo sapiens)
SMAD4 MH2 Domain Mutants in Cancer (Homo sapiens)
SMAD4 MH2 Domain Mutants do not bind phosphorylated SMAD2 and SMAD3 (Homo sapiens)
SMAD4 MH2 domain mutants [cytosol] (Homo sapiens)
SMAD4 Q245* [cytosol] (Homo sapiens)
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 Q256* [cytosol]
SMAD4 Q239* [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 245
Coordinate
245
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name
Identifier
Synonyms
invasive bladder transitional cell carcinoma
DOID:6477
Invasive bladder Urothelial carcinoma
lung adenocarcinoma
DOID:3910
nonsmall cell adenocarcinoma
colon adenocarcinoma
DOID:234
adenocarcinoma of the colon, adenocarcinoma of colon, Colonic adenocarcinoma
oral squamous cell carcinoma
DOID:0050866
mouth squamous cell carcinoma
nasopharynx carcinoma
DOID:9261
malignant neoplasm of nasopharynx, malignant neoplasm of anterior wall of nasopharynx, malignant neoplasm of lateral wall of nasopharynx, malignant tumor of lateral wall of nasopharynx, Nasopharyngeal carcinoma, carcinoma of nasopharynx, malignant tumor of posterior wall of nasopharynx, malignant Nasopharyngeal tumor, malignant neoplasm of posterior wall of nasopharynx, malignant neoplasm of nasopharyngeal wall, malignant neoplasm of other specified sites of nasopharynx, primary malignant neoplasm of anterior wall of nasopharynx, malignant tumor of anterior wall of nasopharynx, malignant neoplasm of roof of nasopharynx, malignant neoplasm of superior wall of nasopharynx, nasopharynx cancer
cancer
DOID:162
malignant tumor, malignant neoplasm, primary cancer
breast cancer
DOID:1612
malignant tumor of the breast, mammary cancer, malignant neoplasm of breast, mammary tumor, primary breast cancer, breast cancer, Ca breast - NOS, breast tumor
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
esophagus adenocarcinoma
DOID:4914
Oesophageal adenocarcinoma, adenocarcinoma of esophagus
Cross References
RefSeq
NP_005350.1
COSMIC
COSV61684971
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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