TGFBR1
Sign in to saveAlso known as AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A
protein-coding gene in the species Homo sapiens
Gene data
TGFBR1- Name
- transforming growth factor beta receptor 1
- Type
- protein-coding
- Position
- 99,104,038–99,154,395 (+)
- Aliases
- AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4
- Ensembl
- ENSG00000106799
- RefSeq RNA
- NM_001130916.3, NM_001306210.2, NM_001407416.1, NM_001407417.1, NM_001407418.1
- RefSeq protein
- NP_001124388.1, NP_001293139.1, NP_001394345.1, NP_001394346.1, NP_001394347.1
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. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008].
Gene Ontology
Biological process
skeletal system developmentin utero embryonic developmentkidney developmentepithelial to mesenchymal transitionpositive regulation of endothelial cell proliferationventricular trabecula myocardium morphogenesisventricular trabecula myocardium morphogenesisventricular compact myocardium morphogenesis
Molecular function
protein kinase activityprotein kinase activityprotein serine/threonine kinase activitytransmembrane receptor protein serine/threonine kinase activitytransmembrane receptor protein serine/threonine kinase activitytransforming growth factor beta receptor activitytransforming growth factor beta receptor activitytransforming growth factor beta receptor activity
Pathways
MAPK signaling pathway - Homo sapiens (human)Cytokine-cytokine receptor interaction - Homo sapiens (human)FoxO signaling pathway - Homo sapiens (human)Endocytosis - Homo sapiens (human)Cellular senescence - Homo sapiens (human)TGF-beta signaling pathway - Homo sapiens (human)Apelin signaling pathway - Homo sapiens (human)Osteoclast differentiation - Homo sapiens (human)Hippo signaling pathway - Homo sapiens (human)Adherens junction - Homo sapiens (human)
via MyGene.info
Gene · Ensembl
transforming growth factor beta receptor 1
- Symbol
- TGFBR1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:99,104,038-99,154,395
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI