help  | about  | cite  | software

Gene : ACVR1 Homo sapiens

Name  ? activin A receptor type 1 Cytological Location  2q24.1
Brief Description  activin A receptor type 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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • activin A receptor, type I,
  • ALK2,
  • ACVRLK2,
  • ACVR1,
  • ALK2,
  • ACVR1A,
  • FOP,
  • ACVRLK2,
  • NM_001105,
  • OTTHUMG00000131967,
  • HGNC:171,
  • SKR1,
  • TSRI,
  • uc010fog.3,
  • ACTRI,
  • SKR1,
  • ACVR1A
  • identifiers:
  • 90,
  • ENSG00000115170,
  • ACVR1

Genome feature

Region: gene ? Length: 139451  
Location: 2:157736446-157875896 reverse strand Cyto location: 2q24.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

71 SN Ps

5 Cross References

19 Data Sets

14 Homologues

0 Located Features

90 Rna Seq Results