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TGFBR1 (transforming growth factor beta receptor 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7046
Gene nameGene Name - the full gene name approved by the HGNC.
Transforming growth factor beta receptor 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TGFBR1
SynonymsGene synonyms aliases
AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TBR-i, TBRI, TGFR-1, tbetaR-I
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.33
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 503
Interactions View interactions

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