QuickView for ACVRL1 (gene)

Gene Symbol:

ACVRL1 Homo sapiens

Full name:

activin A receptor like type 1

Synonyms:

ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I, serine/threonine-protein kinase receptor R3, TGF-B superfamily receptor type I, activin A receptor type II-like 1, activin A receptor type IL, activin A receptor, type II-like kinase 1

Genomic Location:

Chr 12: 50587469-50603412

Description:

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 AL...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

PU1_Q6 ,  GGATTA_PITX2_Q2 ,  LMO2COM_02 ,  RGAGGAARY_PU1_Q6 ,  CACBINDINGPROTEIN_Q6

Cytogenetic Map:

12q13.13

search → result