RSRC1
Function
Has a role in alternative splicing and transcription regulation (PubMed:29522154). Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3' splice site during the second step of splicing.
Involvement in disease
Intellectual developmental disorder, autosomal recessive 70
MRT70
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT70 patients manifest impaired intellectual development, mild facial dysmorphism, febrile seizures, and behavioral abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated.
Tissue Specificity
Widely expressed. Expressed in brain, spinal cord, cerebellum.
Cellular localization
- Nucleus
- Nucleus speckle
- Cytoplasm
- Shuttles between the nucleus and cytoplasm.
Alternative names
SRRP53, BM-011, RSRC1, Serine/Arginine-related protein 53, SRrp53, Arginine/serine-rich coiled-coil protein 1