RPAP3

RNA polymerase II associated protein 3

Ensembl:
ENSG00000005175
UniProt:
Q9H6T3
OMIM:
611477
Synonyms:
FLJ21908, HSPAGH, SPAG, TAH1

Cilia effects upon perturbation of RPAP3

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-10.37) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
decreased circulating phosphate level, enlarged thymus, embryonic lethality prior to organogenesis, abnormal thymus morphology, preweaning lethality, complete penetrance, decreased circulating glucose level
Mouse ciliopathy phenotype:
small testis, decreased circulating calcium level, abnormal testis morphology

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Protein processing & maturation

Function

RPAP3 has localized in basal body.

Model organism evidence

Danio rerio (1 reference)

CCDC103 is a small protein with unusual biophysical properties that is required for outer dynein arm assembly on ciliary axonemes.

PMIDs: 31858719