Sequence Browser (P84022-1)

UniProt (Ref Seq)
Displayed Structure
Experimental Tertiary/Complex (PDB:XRay/EM)
Experimental Tertiary/Complex (PDB:NMR)
Modelled Tertiary (Phyre)
If the whole structure is coloured grey in '3D Structure Viewer' panel, please click the icon - on the top left corner of the viewer.
(If nothing changes then 'Sequence ↔ Structure' mapping may be unavailable).
1
425
Isoform
Remark
Ref
No experimental confirmation available.
VSP_042900
No experimental confirmation available.
VSP_045348
P84022-1  
VSP_043793
Click on Isoform of interest to be redirected to the corresponding page
Type
Variation
Position
splice variant
Missing
1 - 195
splice variant
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIP → MSCLHPRQTWKGAALVHRKAWWMG
1 - 68
sequence variant
I → V
170
sequence variant
T → I
261
sequence variant
R → W
287
mutagenesis site
T → V
8
mutagenesis site
K → A
40
mutagenesis site
K → A
43
mutagenesis site
K → R
53
mutagenesis site
K → R
81
mutagenesis site
S → A
204
mutagenesis site
S → A
213
mutagenesis site
K → R
341
mutagenesis site
K → R
378
mutagenesis site
S → A
418
mutagenesis site
SSVS → AAVA
422 - 425
mutagenesis site
SSVS → RRVR
422 - 425
sequence conflict
F → L
360
splice variant
Missing
1 - 105
sequence variant
A → V
112
sequence variant
E → K
239
sequence variant
R → K
279
sequence variant
P → L
393
mutagenesis site
K → R
33
mutagenesis site
K → A
41
mutagenesis site
K → A
44
mutagenesis site
R → D
74
mutagenesis site
T → V
179
mutagenesis site
S → A
208
mutagenesis site
K → R
333
mutagenesis site
K → Q
378
mutagenesis site
K → R
409
mutagenesis site
S → D
418
mutagenesis site
SSVS → EEVE
422 - 425
sequence conflict
E → EVGTWAAQAGL
178

To analyse the structural impact of your missense variant:

  • Select the corresponding experimental/modelled structure from the "Available Structures" Panel.
  • Right-click on the target structure and download it.
  • Go to our web server Missense3D to analyse structural impact.

  • Go to Missense3D
Protein:
Other Names:
JV15-2, SMAD family member 3
Primary Accession:
Other Accessions:
A8K4B6, B7Z4Z5, B7Z6M9, B7Z9Q2, F5H383, O09064, O09144, O14510, O35273, Q92940, Q93002, Q9GKR4
Gene :
SMAD3*, synonyms (MADH3)
Organism :
Human
Entry Name :
Length :
425
Mass (Da) :
48,081
Last modified :
Jan 5, 2004
Version :
v1
Isoforms :
4 
Variants :
35 
Interactions :
40 
Structures :
Experimental 10 | Phyre prediction 5

Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.

With
Entry
IntAct
Exp
Itself
EBI-347161, EBI-347161
3
AES
Q08117
EBI-347161, EBI-717810
3
BLZF1
Q9H2G9
EBI-347161, EBI-2548012
8
CPSF7
Q8N684
EBI-347161, EBI-746909
3
CRX
O43186
EBI-347161, EBI-748171
3
DDX5
P17844
EBI-347161, EBI-351962
2
EPAS1
Q99814
EBI-347161, EBI-447470
2
FOXO3
O43524
EBI-347161, EBI-1644164
5
LHX3
Q9UBR4-2
EBI-347161, EBI-12039345
4
MTMR4
Q9NYA4
EBI-347161, EBI-1052346
2
PCK2
Q16822
EBI-347161, EBI-2825219
2
PHC2
Q8IXK0-5
EBI-347161, EBI-11527347
3
RNF31
Q96EP0
EBI-347161, EBI-948111
2
SKI
P12755
EBI-347161, EBI-347281
8
SMAD4
Q13485
EBI-347161, EBI-347263
24
SNW1
Q13573
EBI-347161, EBI-632715
5
TEKT4
Q8WW24
EBI-347161, EBI-750487
3
TSC22D4
Q9Y3Q8
EBI-347161, EBI-739485
2
WWP1
Q9H0M0
EBI-347161, EBI-742157
8
ZC3H12A
Q5D1E8
EBI-347161, EBI-747793
2
O92972
EBI-347161, EBI-9213553
6
AES
Q08117-2
EBI-347161, EBI-11741437
3
CHRD
Q9H2X0
EBI-347161, EBI-947551
2
CPSF7
Q8N684-3
EBI-347161, EBI-11523759
3
DAB2
P98082
EBI-347161, EBI-1171238
3
DOCK9
Q9BZ29
EBI-347161, EBI-2695893
3
FOXH1
O75593
EBI-347161, EBI-1759806
5
GLI2
P10070
EBI-347161, EBI-10821567
4
MEOX2
P50222
EBI-347161, EBI-748397
6
MYD88
Q99836
EBI-347161, EBI-447677
3
PHC2
Q8IXK0
EBI-347161, EBI-713786
3
PPP1R12C
Q9BZL4
EBI-347161, EBI-721802
2
SETD2
Q9BYW2
EBI-347161, EBI-945869
2
SMAD2
Q15796
EBI-347161, EBI-1040141
2
SMURF2
Q9HAU4
EBI-347161, EBI-396727
9
SQSTM1
Q13501
EBI-347161, EBI-307104
3
Tgfbr1
Q64729
EBI-347161, EBI-2899393
6
USP7
Q93009
EBI-347161, EBI-302474
2
WWP2
O00308
EBI-347161, EBI-743923
7
ZFYVE9
O95405
EBI-347161, EBI-296817
2