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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
49
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiovascular phenotype Pathogenic; Likely pathogenic rs113605875, rs111854391 RCV005403720
RCV000617152
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome Likely pathogenic rs863223811 RCV005625436
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial aortopathy Likely pathogenic; Pathogenic rs760079636, rs1060502046 RCV003235118
RCV001174650
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (53 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance; Conflicting classifications of pathogenicity; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aortic aneurysm, familial thoracic 6 Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AORTIC DISSECTION CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adams-Oliver syndrome 1 Adams-Oliver Syndrome BEFREE 23554019
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10416594, 31585122, 9850059
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 20500843, 30959852
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19509225
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 26586478
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASDB_DG 23455636
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 23455636
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 25867331, 28343170
★☆☆☆☆
Found in Text Mining only
Albinism Oculocutaneous Oculocutaneous albinism Pubtator 30219046 Associate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 28622298, 28781950
★☆☆☆☆
Found in Text Mining only