This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]
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).
Subunit:
Associates with the spliceosome. Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF,RBM10 and KIF11/TRIP5.
Subcellular Location:
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.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Defects in RBM10 are the cause of TARP syndrome (TARPS) [MIM:311900]. It is a disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects.
Similarity:
Contains 1 C2H2-type zinc finger.
Contains 1 G-patch domain.
Contains 1 RanBP2-type zinc finger.
Contains 2 RRM (RNA recognition motif) domains.
SWISS:
P98175
Gene ID:
8241
Database links:
Entrez Gene: 8241 Human
Entrez Gene: 236732 Mouse
Omim: 300080 Human
SwissProt: P98175 Human
SwissProt: Q99KG3 Mouse
Unigene: 401509 Human
Unigene: 279194 Mouse
Unigene: 383632 Mouse
|
|
