TGFBR1 G52R

Stable Identifier
R-HSA-3656368
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
TGFBR1 Gly52Arg
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
21358634 Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

Goudie, DR, D'Alessandro, M, Merriman, B, Lee, H, Szeverényi, I, Avery, S, O'Connor, BD, Nelson, SF, Coats, SE, Stewart, A, Christie, L, Pichert, G, Friedel, J, Hayes, I, Burrows, N, Whittaker, S, Gerdes, AM, Broesby-Olsen, S, Ferguson-Smith, MA, Verma, C, Lunny, DP, Reversade, B, Lane, EB

Nat. Genet. 2011
External Reference Information
External Reference
Gene Names
TGFBR1, ALK5, SKR4
Chain
signal peptide:1-33, chain:34-503
Other Identifiers
0000870154
11739462_a_at
11746441_a_at
11758014_s_at
17087480
1957_s_at
1B6C
1IAS
1PY5
1RW8
1TBI
1VJY
206943_at
224793_s_at
2441
2L5S
2PJY
2WOT
2WOU
2X7O
31481
3181729
3181730
3181747
3181748
3181752
3181754
3181756
3181758
3181760
3181762
3181763
3181764
3181765
3181766
3181767
3181768
3181769
32903_at
3FAA
3GXL
3HMM
3KCF
3KFD
3TZM
44127_at
49222_at
4X0M
4X2F
4X2G
4X2J
4X2K
4X2N
52307_at
52539_at
56473
5E8S
5E8T
5E8U
5E8W
5E8X
5E8Z
5E90
5FRI
5USQ
6B8Y
7046
8156826
A_14_P111822
A_23_P123943
A_33_P3331451
AAA16073
AAC08998
AAD02042
AAH71181
AAR32097
ABD46753
ACZ58375
AF035662
AF035663
AF035664
AF035665
AF035666
AF035667
AF035668
AF035669
AF035670
AF054590
AF054591
AF054592
AF054593
AF054594
AF054595
AF054596
AF054597
AF054598
AH015633
AJ619019
AJ619020
AL162427
AY497473
B4DY26
BC071181
CAB002441
CAB031481
CAF02096
CAF02097
CCDS47998
CCDS6738
CCDS78413
CH471105
DQ383416
DQ383417
DQ383418
DQ383419
DQ383421
DQ383422
DQ383424
EAW58905
EAW58906
ENSG00000106799
ENSP00000364129
ENSP00000364133
ENSP00000447297
ENST00000374990
ENST00000374994
ENST00000552516
EntrezGene:7046
F8VRH6
F8VVC4
F8VXZ5
F8W0K6
F8W1R9
g4759225_3p_at
GE80220
GO:0000003
GO:0000166
GO:0000186
GO:0001501
GO:0001525
GO:0001701
GO:0001822
GO:0001824
GO:0001837
GO:0001937
GO:0001938
GO:0002088
GO:0002376
GO:0003222
GO:0003223
GO:0003674
GO:0004672
GO:0004674
GO:0004675
GO:0004871
GO:0005024
GO:0005025
GO:0005102
GO:0005114
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005768
GO:0005886
GO:0005923
GO:0006355
GO:0006464
GO:0006468
GO:0006605
GO:0006810
GO:0006913
GO:0006915
GO:0006950
GO:0007010
GO:0007049
GO:0007050
GO:0007165
GO:0007178
GO:0007179
GO:0007507
GO:0008150
GO:0008219
GO:0008283
GO:0008284
GO:0008354
GO:0008584
GO:0009058
GO:0009790
GO:0009791
GO:0009952
GO:0009986
GO:0010468
GO:0010628
GO:0010717
GO:0010718
GO:0010862
GO:0016020
GO:0016021
GO:0016301
GO:0016310
GO:0016579
GO:0016740
GO:0018105
GO:0018107
GO:0019838
GO:0022607
GO:0030054
GO:0030154
GO:0030198
GO:0030199
GO:0030307
GO:0030335
GO:0030512
GO:0031396
GO:0031410
GO:0032331
GO:0032924
GO:0032991
GO:0034330
GO:0034641
GO:0035556
GO:0040007
GO:0040008
GO:0040011
GO:0042060
GO:0042118
GO:0043062
GO:0043065
GO:0043066
GO:0043167
GO:0043226
GO:0043231
GO:0043235
GO:0043393
GO:0043542
GO:0045121
GO:0045893
GO:0046332
GO:0046872
GO:0048538
GO:0048646
GO:0048663
GO:0048701
GO:0048705
GO:0048762
GO:0048844
GO:0048856
GO:0048870
GO:0050431
GO:0051272
GO:0051491
GO:0051496
GO:0051897
GO:0060017
GO:0060021
GO:0060037
GO:0060043
GO:0060317
GO:0060389
GO:0060391
GO:0060412
GO:0060978
GO:0060982
GO:0070022
GO:0070411
GO:0070723
GO:0071560
GO:1905007
GO:1905075
GO:1905223
GO:2001235
GO:2001237
GU143401
H0YHS4
HGNC:11772
HPA056473
Hs.28005.0.S1_3p_a_at
ILMN_1745927
ILMN_1797611
IPR000333
IPR000472
IPR000719
IPR003605
IPR008271
IPR011009
IPR017441
L11695
L11695_at
MIM:132800
MIM:190181
NM_001130916
NM_001306210
NM_004612
NP_001124388
NP_001293139
NP_004603
PF00069
PF01064
PF08515
PH_hs_0022072
Q5T7S2
SM00220
SM00467
TC09000500.hg
TGFBR1
TGFBR1-201
TGFBR1-202
TGFBR1-209
uc004azc.4
uc004azd.4
uc004aze.4
UPI000011D62A
UPI00003782E5
UPI00020B16FD
Participant Of
Other forms of this molecule
Modified Residues
Name
glycine 52 replaced with L-arginine
Coordinate
52
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to an L-arginine.
A protein modification that effectively removes or replaces an glycine.
Disease
Name Identifier Synonyms
Ferguson-Smith tumor 5585 Multiple self-healing epithelioma of Ferguson-Smith (disorder)
cancer 162 malignant tumor, malignant neoplasm, primary cancer
Cross References
ZINC - World Drugs
ZINC - FDA approved
GeneCards
ZINC - Substances
ZINC target
PRO
BRENDA (Homo sapiens)
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Interactors (2)