TGFBR1
Sign in to saveAlso known as AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A
protein-coding gene in the species Homo sapiens
In the Vinony graph
Within Vinony's link graph, TGFBR1 is referenced by 313 other articles, and connects out to activin and inhibin, PubMed and Ensembl genome database project.
It is catalogued under topics including Genes on human chromosome 9 and TGF beta receptors.
Its subject is documented across 5 Wikipedia language editions.
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
Molecular function
Pathways
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein TGFBR1 PDB 1b6c.png
Show 9 more facts
- HomoloGene ID
- 3177
- genetic association
- Loeys-Dietz syndrome
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/7046
- chromosome
- human chromosome 9
- genomic start
- 101866320
- genomic end
- 101916474
- cytogenetic location
- 9q22.33
- expressed in
- superficial temporal artery
Sources (6)
via Wikidata · CC0