ACVR1B

activin A receptor type 1B

Ensembl:
ENSG00000135503
UniProt:
P36896
OMIM:
601300
Synonyms:
ACTRIB, ACVRLK4, ALK4, SKR2

Cilia effects upon perturbation of ACVR1B

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.54) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.31) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
enlarged lymph nodes, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage, abnormal coat/ hair morphology
Mouse ciliopathy phenotype:
abnormal uterus morphology, small adrel glands, small testis

Subcellular localization

cilia

Functional category

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

Function

ACVR1B has localized in primary cilia.