RBM10/S1-1

Function

May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity). May bind to specific miRNA hairpins (PubMed:28431233).

Involvement in disease

TARP syndrome

TARPS

A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects.

None

The disease is caused by variants affecting the gene represented in this entry.

Cellular localization

• Nucleus
• In the extranucleolar nucleoplasm constitutes hundreds of nuclear domains, which dynamically change their structures in a reversible manner. Upon globally reducing RNA polymerase II transcription, the nuclear bodies enlarge and decrease in number. They occur closely adjacent to nuclear speckles or IGCs (interchromatin granule clusters) but coincide with TIDRs (transcription-inactivation-dependent RNA domains).

Alternative names

• RNA-binding protein 10
• G patch domain-containing protein 9
• RNA-binding motif protein 10
• RNA-binding protein S1-1
• S1-1
• RBM10
• DXS8237E
• GPATC9
• GPATCH9
• KIAA0122

Database links

• entrezGene:8241
• omim:300080
• swissprot:P98175

Target type

Proteins

Molecular weight

103533Da