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).