Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7046
Gene name Gene Name - the full gene name approved by the HGNC.
Transforming growth factor beta receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TGFBR1
Synonyms (NCBI Gene) Gene synonyms aliases
AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TBR-i, TBRI, TGFR-1, tbetaR-I
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LDS1, MSSE
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT000687 hsa-let-7c-5p qRT-PCR, Luciferase reporter assay, Western blot 19841744
MIRT004650 hsa-miR-128-3p Luciferase reporter assay, Western 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 factor Regulation Reference
SMAD7 Repression 15221015
WWP1 Repression 15221015
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000186 Process Activation of MAPKK activity IDA 18625725
GO:0001501 Process Skeletal system development ISS
GO:0001701 Process In utero embryonic development ISS
GO:0001822 Process Kidney development ISS
GO:0001824 Process Blastocyst development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190181 11772 ENSG00000106799
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Loeys-Dietz Syndrome Loeys-Dietz syndrome 1 GenCC
Asthma Asthma GWAS
Associations from Text Mining
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