ACVRL1

Name

activin A receptor like type 1

Type

protein-coding

Position

51,906,908–51,923,361 (+)

Aliases

ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I

Ensembl

ENSG00000139567

RefSeq RNA

NM_000020.3, NM_001077401.2, NM_001406487.1, NM_001406488.1, NM_001406489.1

RefSeq protein

NP_000011.2, NP_001070869.1, NP_001393416.1, NP_001393417.1, NP_001393418.1

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

Wikidata facts

Instance of

gene

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