Activin A Receptor, Type I

Alternative Names

  • ACVR1
  • Activin A Receptor, Type II-Like Kinase 2
  • ACVRLK2
  • Activin Receptor-Like Kinase 2
  • ALK2
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OMIM Number

102576

NCBI Gene ID

90

Uniprot ID

Q04771

Length

139,885 bases

No. of Exons

16

No. of isoforms

1

Protein Name

Activin receptor type-1

Molecular Mass

57153 Da

Amino Acid Count

509

Genomic Location

chr2:157,736,445-157,876,329

Gene Map Locus
2q24.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001105.4:c.617G>ASaudi ArabiaNC_000002.12:g.157774114C>TPathogenicPathogenicFibrodysplasia Ossificans ProgressivaNG_008004.1:g.105998G>A; NM_001105.4:c.617G>A; NP_001096.1:p.Arg206His12191267818309
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