RBMX
Domain
The RRM domain is necessary for RNA-binding, but not for splice site selection, indicating that its splicing activity does not require direct binding to RNA.
Function
RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue-specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the supraspliceosome complex that regulates pre-mRNA alternative splice site selection. Can either activate or suppress exon inclusion; acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN2. Represses the splicing of MAPT/Tau exon 10. Binds preferentially to single-stranded 5'-CC[A/C]-rich RNA sequence motifs localized in a single-stranded conformation; probably binds RNA as a homodimer. Binds non-specifically to pre-mRNAs. Also plays a role in the cytoplasmic TNFR1 trafficking pathways; promotes both the IL-1-beta-mediated inducible proteolytic cleavage of TNFR1 ectodomains and the release of TNFR1 exosome-like vesicles to the extracellular compartment.
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic, Shashi type
MRXSSH
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS11 patients manifest moderate intellectual disability and craniofacial dysmorphism.
None
The disease is caused by variants affecting the gene represented in this entry.
Intellectual developmental disorder, X-linked, syndromic, Gustavson type
MRXSG
An X-linked disorder characterized by profound intellectual disability, microcephaly, severe structural brain abnormalities, epileptic seizures, severe vision defect, hearing loss, congenital heart defects, psychomotor deficits, and death in infancy or early childhood.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
O-glycosylated.
Arg-185 is dimethylated, probably to asymmetric dimethylarginine.
Cleavage of initiator Met is partial. If Met-1 is not removed, it is acetylated. If it is removed, Val-2 is acetylated.
Tissue Specificity
Expressed strongly in oral keratinocytes, but only weakly detected in oral squamous cell carcinomas (at protein level).
Cellular localization
- Nucleus
- Component of ribonucleosomes. Localizes in numerous small granules in the nucleus.
Alternative names
HNRPG, RBMXP1, RBMX, Glycoprotein p43, Heterogeneous nuclear ribonucleoprotein G, hnRNP G