SRRM4

serine/arginine repetitive matrix 4

Ensembl:
ENSG00000139767
UniProt:
A7MD48
OMIM:
613103
Synonyms:
KIAA1853, NSR100

Cilia effects upon perturbation of SRRM4

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
tremors, preweaning lethality, incomplete penetrance

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

A subset of these microexons is included exclusively in photoreceptor transcripts, particularly in genes involved in cilia biogenesis and vesicle-mediated transport and this microexon program is regulated by Srrm3, a paralog of the neural microexon regulator Srrm4. Despite the fact that both proteins positively regulate reti microexons in vitro, only Srrm3 is highly expressed in mature photoreceptors ( 35858306).