Reactome | TGFBR1 G52R [plasma membrane]

TGFBR1 G52R [plasma membrane]

Stable Identifier

R-HSA-3656368

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

TGFBR1 Gly52Arg

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Locations in the PathwayBrowser

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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 TGFBR1 in Cancer (Homo sapiens)
      - TGFBR1 LBD Mutants in Cancer (Homo sapiens)
        
        TGFBR2 does not recruit TGFBR1 LBD Mutants (Homo sapiens)
        
        TGFBR1 LBD Mutants:FKBP1A [plasma membrane] (Homo sapiens)
        
        TGFBR1 LBD Mutants [plasma membrane] (Homo sapiens)
        
        TGFBR1 G52R [plasma membrane] (Homo sapiens)

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 Gene (Homo sapiens):7046 TGFBR1

Monarch:7046 TGFBR1

NCBI Gene:7046 TGFBR1

OMIM:190181 TGFBR1

UCSC:P36897 TGFBR1

Reference Transcript

Other Identifiers

0000870154

11739462_a_at

11746441_a_at

11758014_s_at

17087480

1957_s_at

206943_at

224793_s_at

3181729

3181730

3181747

3181748

3181752

3181754

3181756

3181758

3181760

3181762

3181763

3181764

3181765

3181766

3181767

3181768

3181769

3181777

3181779

32903_at

44127_at

49222_at

52307_at

52539_at

7046

8156826

A_14_P111822

A_23_P123943

A_33_P3331451

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:0005024

GO:0005025

GO:0005102

GO:0005114

GO:0005515

GO:0005524

GO:0005575

GO:0005622

GO:0005634

GO:0005737

GO:0005768

GO:0005886

GO:0005923

GO:0006355

GO:0006464

GO:0006468

GO:0006915

GO:0006950

GO:0007010

GO:0007049

GO:0007050

GO:0007165

GO:0007178

GO:0007179

GO:0007399

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:0016361

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:0043235

GO:0043393

GO:0043542

GO:0045121

GO:0045893

GO:0046332

GO:0046872

GO:0048179

GO:0048185

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:0070411

GO:0070723

GO:0071363

GO:0071560

GO:1905007

GO:1905075

GO:1905223

GO:2001235

GO:2001237

HMNXSV003047156

Hs.28005.0.S1_3p_a_at

ILMN_1745927

ILMN_1797611

L11695_at

PH_hs_0022072

TC09000500.hg

g4759225_3p_at

Participates

as a member of

TGFBR1 LBD Mutants [plasma membrane] (Homo sapiens)

Other forms of this molecule

Ub-TGFBR1 [plasma membrane]

p-4S,T185,T186-TGFBR1 W242* [plasma membrane]

p-4S,T185,T186-TGFBR1 P327Qfs*8 [plasma membrane]

p-4S,T185,T186-TGFBR1 L354Nfs*4 [plasma membrane]

p-4S,T185,T186-TGFBR1 R414* [plasma membrane]

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

TGFBR1 C41Y [plasma membrane]

TGFBR1 N45S [plasma membrane]

TGFBR1 P83L [plasma membrane]

TGFBR1 P83S [plasma membrane]

TGFBR1 [plasma membrane]

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

Modified Residues

Name

glycine 52 replaced with L-arginine

Coordinate

PsiMod

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

L-arginine residue [MOD:00011]

A protein modification that effectively converts a source amino acid residue to an L-arginine.

Disease

Name	Identifier	Synonyms
Ferguson-Smith tumor	DOID:5585	Multiple self-healing epithelioma of Ferguson-Smith (disorder)
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

NP_001124388.1, NP_004603.1, NP_001293139.1

ZINC - World Drugs

TGFR1_HUMAN

Guide to Pharmacology - Targets

1788

OpenTargets

ENSG00000106799

ZINC - FDA approved

TGFR1_HUMAN

ZINC - Substances

TGFR1_HUMAN

ZINC target

P36897

ZINC - Biogenic

TGFR1_HUMAN

PRO

P36897

GlyGen

P36897

PDB

3HMM, 6B8Y, 5QU0, 1VJY, 4X0M, 5E8U, 5QTZ, 5QIK, 5E8T, 4X2F, 3GXL, 4X2G, 3KCF, 2L5S, 5FRI, 5E8W, 2WOT, 2WOU, 6MAC, 5E8X, 4X2J, 5QIL, 5QIM, 1PY5, 5E90, 4X2K, 1RW8, 5E8Z, 1B6C, 2PJY, 4X2N, 3KFD, 3FAA, 5USQ, 3TZM, 2X7O, 5E8S, 1TBI, 1IAS

ZINC - Investigational

TGFR1_HUMAN

IntEnz

2.7.11.30

HPA

ENSG00000106799-TGFBR1

GeneCards

P36897

Ensembl

ENST00000374990, ENSG00000106799, ENSP00000364129, ENSP00000447297, ENST00000552516, ENST00000374994, ENSP00000364133

Pharos - Targets

P36897

ZINC - Predictions - Purchasable

TGFR1_HUMAN

Orphanet

15610

HMDB Protein

HMDBP01288

Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P62942 FKBP1A	1	FKBP1A [cytosol] (R-HSA-2026007)	0.592	2
UniProt:P63104 YWHAZ	2	YWHAZ [nucleoplasm] (R-HSA-450469) YWHAZ [cytosol] (R-HSA-206099)	0.556	4

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