ACVR1

activin A receptor type 1

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000115170
UniProt:
Q04771
OMIM:
102576
Synonyms:
ACVR1A, ACVRLK2, ALK2, SKR1

Cilia effects upon perturbation of ACVR1

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.2) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
embryonic lethality prior to tooth bud stage, embryonic lethality prior to organogenesis, preweaning lethality, complete penetrance, increased circulating total protein level

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:21831921

Functional category

  • Ciliary assembly/disassembly
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development

Function

These results indicate that BMP signaling through ACVR1 is required for appropriate formation of nodal cilia(21831921).