ACVR1

activin A receptor type 1

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

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • T cell biology
  • 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).

Model organism evidence

C. elegans (1 reference)

Primary cilia are located at the dendritic tips of sensory neurons and house the molecular machinery necessary for detection and transduction of sensory stimuli.

PMIDs: 33460640

Mus musculus (1 reference)

Acvr1 deficiency in mouse embryonic fibroblasts (MEFs) resulted in severe defects in their quiescence-induced primary cilia.

PMIDs: 21831921