Gene Gene information from NCBI Gene database.
Entrez ID 7046
Gene name Transforming growth factor beta receptor 1
Gene symbol TGFBR1
Synonyms (NCBI Gene)
AAT5ACVRLK4ALK-5ALK5ESS1LDS1LDS1ALDS2AMSSESKR4TBR-iTBRITGFR-1tbetaR-I
Chromosome 9
Chromosome location 9q22.33
Summary The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutation
SNPs SNP information provided by dbSNP.
50
SNP ID Visualize variation Clinical significance Consequence
rs11466445 GCGGCGGCGGCGGCG>-,GCG,GCGGCG,GCGGCGGCG,GCGGCGGCGGCG,GCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCG,GCGGCGGCGGCGGCGGCGGCGGCGGCG Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign-likely-benign Intron variant, inframe deletion, inframe insertion, genic upstream transcript variant, coding sequence variant
rs111426349 C>A,G,T Pathogenic, uncertain-significance Coding sequence variant, synonymous variant, missense variant
rs111854391 C>A,T Likely-pathogenic, pathogenic Coding sequence variant, missense variant, stop gained
rs113605875 G>A,C,T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs121918710 T>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1021
miRTarBase ID miRNA Experiments Reference
MIRT000687 hsa-let-7c-5p qRT-PCRLuciferase reporter assayWestern blot 19841744
MIRT004650 hsa-miR-128-3p Luciferase reporter assayWestern blot 20054641
MIRT003271 hsa-miR-204-5p Luciferase reporter assay 20056717
MIRT007379 hsa-miR-140-5p Luciferase reporter assay 23401231
MIRT021634 hsa-miR-142-3p Microarray 17612493
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SMAD7 Repression 15221015
WWP1 Repression 15221015
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
195
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development ISS
GO:0001525 Process Angiogenesis IEA
GO:0001701 Process In utero embryonic development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190181 11772 ENSG00000106799
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36897
Protein name TGF-beta receptor type-1 (TGFR-1) (EC 2.7.11.30) (Activin A receptor type II-like protein kinase of 53kD) (Activin receptor-like kinase 5) (ALK-5) (ALK5) (Serine/threonine-protein kinase receptor R4) (SKR4) (TGF-beta type I receptor) (Transforming growth
Protein function Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from t
PDB 1B6C , 1IAS , 1PY5 , 1RW8 , 1VJY , 2L5S , 2PJY , 2WOT , 2WOU , 2X7O , 3FAA , 3GXL , 3HMM , 3KCF , 3KFD , 3TZM , 4X0M , 4X2F , 4X2G , 4X2J , 4X2K , 4X2N , 5E8S , 5E8T , 5E8U , 5E8W , 5E8X , 5E8Z , 5E90 , 5FRI , 5QIK , 5QIL , 5QIM , 5QTZ , 5QU0 , 5USQ , 6B8Y , 6MAC , 8YHF , 8YHL , 9B9F , 9F6X , 9FK5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01064 Activin_recp 34 110 Activin types I and II receptor domain Domain
PF08515 TGF_beta_GS 176 203 Transforming growth factor beta type I GS-motif Family
PF00069 Pkinase 205 492 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Found in all tissues examined, most abundant in placenta and least abundant in brain and heart. Expressed in a variety of cancer cell lines (PubMed:25893292). {ECO:0000269|PubMed:25893292}.
Sequence
Sequence length 503
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1511
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiovascular phenotype Pathogenic; Likely pathogenic rs113605875, rs111854391 RCV005403720
RCV000617152
Ehlers-Danlos syndrome Likely pathogenic rs863223811 RCV005625436
Familial aortopathy Likely pathogenic; Pathogenic rs760079636, rs1060502046 RCV003235118
RCV001174650
Familial thoracic aortic aneurysm and aortic dissection Likely pathogenic; Pathogenic rs1827496704, rs1827126921, rs2118780524, rs2118804176, rs2118807458, rs2118803591, rs2118827924, rs2118841181, rs2118563240, rs2118707001, rs2118630690, rs2118840018, rs2118805827, rs730880223, rs2490192138
View all (42 more)
RCV001322257
RCV003529479
RCV001379085
RCV001380154
RCV002540399
RCV002034646
RCV002542416
RCV002027689
RCV001985305
RCV001977635
RCV001993206
RCV001993470
RCV002304883
RCV002516367
RCV002394203
RCV002389083
RCV002746247
RCV001380058
RCV001187849
RCV001170914
RCV002975956
RCV003019221
RCV003042890
RCV003150768
RCV002310832
RCV001042584
RCV002310869
RCV000244262
RCV000211857
RCV000211856
RCV003528871
RCV003529113
RCV003529350
RCV003529731
RCV003643539
RCV003643813
RCV003644045
RCV003644398
RCV003644382
RCV003643483
RCV003818769
RCV003837750
RCV000474057
RCV000471274
RCV000464356
RCV000473430
RCV000538139
RCV000551498
RCV000614164
RCV000605493
RCV002315262
RCV002315260
RCV000660318
RCV000698286
RCV000766264
RCV001065118
RCV001227976
RCV002436985
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance; Conflicting classifications of pathogenicity; Likely benign rs199545273, rs7871490, rs201054018, rs201772204 RCV005900423
RCV005900426
RCV005900430
RCV005908921
Aortic aneurysm, familial thoracic 6 Uncertain significance rs1564176059 RCV000845496
Connective tissue disorder Likely benign rs1564149227 RCV000680611
Craniosynostosis syndrome Uncertain significance rs201910738 RCV000985274
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33769671, 34036102
Albinism Oculocutaneous Associate 30219046
Aneurysm Associate 16928994, 37864304
Aortic Aneurysm Associate 18781618, 40243722
Aortic Aneurysm Abdominal Associate 19672284, 26027897
Aortic Aneurysm Familial Thoracic 1 Associate 18781618, 23099432, 29510914
Aortic Aneurysm Thoracic Associate 19672284, 26017485
Aortic Diseases Associate 27879313, 32062130, 36599937
Aortic Dissection Associate 20648054, 21815248, 28847661, 31475485, 31915033, 35078481, 40243722
Apical Hypertrophic Cardiomyopathy Associate 32528555