help  | about  | cite  | software

Gene : ACVRL1 Homo sapiens

Name  ? activin A receptor like type 1 Cytological Location  12q13.13
Brief Description  activin A receptor like type 1
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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ALK1,
  • TSR-I,
  • activin receptor-like kinase 1,
  • NM_000020,
  • ACVRLK1,
  • ALK-1,
  • uc001rzj.4,
  • HHT2,
  • ACVRLK1,
  • activin A receptor type II-like 1,
  • HHT,
  • ACVRL1,
  • L17075,
  • HGNC:175,
  • SKR3,
  • ORW2,
  • HHT2,
  • HHT,
  • OTTHUMG00000169507,
  • ALK1,
  • activin A receptor type IL,
  • ORW2
  • identifiers:
  • 94,
  • ENSG00000139567,
  • ACVRL1

Genome feature

Region: gene ? Length: 16449  
Location: 12:51906913-51923361 Cyto location: 12q13.13


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

97 SN Ps

5 Cross References

19 Data Sets

14 Homologues

0 Located Features

90 Rna Seq Results