p-4S,T185,T186-TGFBR1 D269_Q324del [plasma membrane]

Stable Identifier
R-HSA-3656509
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Icon
p-4S,T185,T186-TGFBR1 D269_Q324del [plasma membrane] icon
p-4S,T185,T186-TGFBR1 D269_Q324del [plasma membrane] icon
Locations in the PathwayBrowser
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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
UniProt:P36897 TGFBR1
Gene Names
TGFBR1, ALK5, SKR4
Chain
signal peptide:1-33, chain:34-503
Reference Genes
BioGPS Gene:7046 TGFBR1
COSMIC (genes):TGFBR1 TGFBR1
CTD Gene:7046 TGFBR1
dbSNP Gene:7046 TGFBR1
ENSEMBL:ENSG00000106799 TGFBR1
HGNC:11772 TGFBR1
KEGG:hsa:7046 TGFBR1
Monarch:7046 TGFBR1
NCBI Gene:7046 TGFBR1
OMIM:190181 TGFBR1
UCSC:P36897 TGFBR1
Reference Transcript
Other Identifiers
11739462_a_at
11746441_a_at
11758014_s_at
17087480
1957_s_at
206943_PM_at
206943_at
224793_PM_s_at
224793_s_at
3181725
3181726
3181727
3181729
3181730
3181744
3181745
3181747
3181748
3181752
3181754
3181756
3181758
3181759
3181760
3181761
3181762
3181763
3181764
3181765
3181766
3181767
3181768
3181769
3181777
3181779
32903_at
44127_at
49222_at
52307_at
52539_at
7046
79156_at
8156826
A_14_P111822
A_23_P123943
A_33_P3331451
GE80220
GO:0000166
GO:0001501
GO:0001525
GO:0001701
GO:0001822
GO:0001824
GO:0001837
GO:0001935
GO:0001937
GO:0001938
GO:0002088
GO:0003222
GO:0003223
GO:0003824
GO:0004672
GO:0004674
GO:0004675
GO:0005024
GO:0005025
GO:0005102
GO:0005114
GO:0005515
GO:0005524
GO:0005634
GO:0005654
GO:0005768
GO:0005886
GO:0005923
GO:0005929
GO:0006355
GO:0006468
GO:0006915
GO:0007165
GO:0007178
GO:0007179
GO:0007399
GO:0007507
GO:0008284
GO:0008354
GO:0008584
GO:0009791
GO:0009952
GO:0009986
GO:0010468
GO:0010628
GO:0010717
GO:0010718
GO:0016020
GO:0016301
GO:0016361
GO:0016740
GO:0018105
GO:0019838
GO:0030154
GO:0030198
GO:0030199
GO:0030307
GO:0030334
GO:0030335
GO:0030336
GO:0031396
GO:0031625
GO:0032331
GO:0032924
GO:0035556
GO:0036446
GO:0042060
GO:0042118
GO:0043062
GO:0043065
GO:0043066
GO:0043226
GO:0043235
GO:0043542
GO:0045121
GO:0045893
GO:0046332
GO:0046847
GO:0046872
GO:0048179
GO:0048185
GO:0048538
GO:0048663
GO:0048701
GO:0048705
GO:0048762
GO:0048844
GO:0048856
GO:0048870
GO:0050431
GO:0051239
GO:0051491
GO:0051496
GO:0051726
GO:0051897
GO:0060017
GO:0060021
GO:0060037
GO:0060043
GO:0060317
GO:0060391
GO:0060412
GO:0060978
GO:0060982
GO:0061450
GO:0070021
GO:0070161
GO:0070411
GO:0070723
GO:0071363
GO:0071560
GO:0097305
GO:0101023
GO:0140096
GO:0141091
GO:1901203
GO:1902462
GO:1902554
GO:1904018
GO:1905007
GO:1905075
GO:1905223
GO:2000026
GO:2001235
GO:2001237
HMNXSV003047156
Hs.28005.0.S1_3p_a_at
ILMN_1745927
L11695_at
PH_hs_0022072
TC09000500.hg
g4759225_3p_at
Participates
as a candidate of
Other forms of this molecule
p-4S,T185,T186-TGFBR1 [plasma membrane]
TGFBR1 [plasma membrane]
TGFBR1 P83S [plasma membrane]
TGFBR1 P83L [plasma membrane]
TGFBR1 N45S [plasma membrane]
TGFBR1 C41Y [plasma membrane]
TGFBR1 G52R [plasma membrane]
p-4S,T185,T186-TGFBR1 R414* [plasma membrane]
p-4S,T185,T186-TGFBR1 L354Nfs*4 [plasma membrane]
p-4S,T185,T186-TGFBR1 P327Qfs*8 [plasma membrane]
p-4S,T185,T186-TGFBR1 W242* [plasma membrane]
Ub-TGFBR1 [plasma membrane]
Modified Residues
Name
Deletion of residues 269 to 324
Name
O-phospho-L-serine at 165
Coordinate
165
PsiMod Name
O-phospho-L-serine [MOD:00046]
PsiMod Definition
A protein modification that effectively converts an L-serine residue to O-phospho-L-serine.
Name
O-phospho-L-threonine at 185
Coordinate
185
PsiMod Name
O-phospho-L-threonine [MOD:00047]
PsiMod Definition
A protein modification that effectively converts an L-threonine residue to O-phospho-L-threonine.
Name
O-phospho-L-threonine at 186
Coordinate
186
PsiMod Name
O-phospho-L-threonine [MOD:00047]
PsiMod Definition
A protein modification that effectively converts an L-threonine residue to O-phospho-L-threonine.
Name
O-phospho-L-serine at 187
Coordinate
187
PsiMod Name
O-phospho-L-serine [MOD:00046]
PsiMod Definition
A protein modification that effectively converts an L-serine residue to O-phospho-L-serine.
Name
O-phospho-L-serine at 189
Coordinate
189
PsiMod Name
O-phospho-L-serine [MOD:00046]
PsiMod Definition
A protein modification that effectively converts an L-serine residue to O-phospho-L-serine.
Name
O-phospho-L-serine at 191
Coordinate
191
PsiMod Name
O-phospho-L-serine [MOD:00046]
PsiMod Definition
A protein modification that effectively converts an L-serine residue to O-phospho-L-serine.
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Ferguson-Smith tumor DOID:5585 Multiple self-healing epithelioma of Ferguson-Smith (disorder)
Cross References
RefSeq
ZINC - World Drugs
Guide to Pharmacology - Targets
ENSEMBL
OpenTargets
Mondo
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
GlyGen
PDB
ZINC - Investigational
IntEnz
HPA
GeneCards
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (4)
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