Symbol: Name: ID: |
ACVRL1 activin A receptor type II-like 1 GFS:6525 |
Gene name: | ACVRL1 |
Chromosome: | 12q11-q14 |
Previous Symbols: | ACVRLK1, ORW2 |
Previous Names: | |
Aliases: | HHT2, ALK1, HHT |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1338946 | Rat Genome Database ID: | RGD:2029 |
HGNC ID: | HGNC:175 | RefSeq IDs: | NM_000020 |
Entrez Gene ID: | Ensembl Gene ID: | ENSG00000139567 | |
VEGA IDs: | UniProt ID: | P37023 | |
UCSC ID: | uc001rzk.2 | OMIM ID: | 601284 |
Pubmed: | PMID8397373 PMID 8640225 | ||
CCDS IDs: | CCDSCCDS31804.1 |
Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.
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].
Function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for TGF-beta. May bind activin as well.
Products for ACVRL1 gene
Catalog | Product Name | Application | Company |
GFS:E06525 | activin A receptor type II-like 1; ELISA kit | ELISA | n/a |
GFS:A06525 | activin A receptor type II-like 1; Anti | ANTIBODIES | n/a |
GFS:P06525 | activin A receptor type II-like 1; Protien | Protien | n/a |