ACVRL1
Sign in to saveAlso known as ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.
Gene data
ACVRL1- Name
- activin A receptor like type 1
- Type
- protein-coding
- Aliases
- ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008].
via MyGene.info
Gene · Ensembl
activin A receptor like type 1
- Symbol
- ACVRL1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 12:51,906,908-51,923,361
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 20058
- exact match
- identifiers.org/ncbigene/94
- genomic end
- 52317145
- genomic start
- 52300692
- cytogenetic location
- 12q13.13
via Wikidata · CC0
~2 min read
Article
8 sectionsContents
- Function
- Pathology
- As a drug target
- Closely/family related kinases
- See also
- References
- Further reading
- External links
Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.
ACVRL1 is a receptor in the TGF beta signaling pathway. It is also known as activin receptor-like kinase 1, or ALK1.