ACVR1

Name

activin A receptor type 1

Type

protein-coding

Position

157,736,249–157,876,408 (−)

Aliases

ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI

Ensembl

ENSG00000115170

RefSeq RNA

NM_001105.5, NM_001111067.4, NM_001347663.1, NM_001347664.1, NM_001347665.1

RefSeq protein

NP_001096.1, NP_001104537.1, NP_001334592.1, NP_001334593.1, NP_001334594.1

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008].

via MyGene.info

Gene · Ensembl

activin A receptor type 1

Symbol

ACVR1

Biotype

Protein coding

Organism

Homo sapiens

Location

2:157,736,249-157,876,408

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

Protein ACVR1 PDB 3H9R.png

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