TGFBR1 P83L [plasma membrane]

Stable Identifier
R-HSA-3656341
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
TGFBR1 Pro83Leu
Icon
TGFBR1 P83L [plasma membrane] icon
TGFBR1 P83L [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

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

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: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:0005768
GO:0005886
GO:0005923
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:0012501
GO:0016020
GO:0016361
GO:0016740
GO:0018105
GO:0019222
GO:0019838
GO:0022414
GO:0030154
GO:0030198
GO:0030199
GO:0030307
GO:0030335
GO:0030336
GO:0031396
GO:0031410
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:0060089
GO:0060317
GO:0060391
GO:0060412
GO:0060978
GO:0060982
GO:0070021
GO:0070411
GO:0070723
GO:0071363
GO:0071560
GO:0140096
GO:0141091
GO:1901203
GO:1902462
GO:1904018
GO:1905007
GO:1905075
GO:1905223
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 N45S [plasma membrane]
TGFBR1 C41Y [plasma membrane]
TGFBR1 G52R [plasma membrane]
p-4S,T185,T186-TGFBR1 D269_Q324del [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
L-proline 83 replaced with L-leucine
Coordinate
83
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
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
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
GlyGen
PDB
ZINC - Investigational
IntEnz
HPA
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (3)
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