RBMX

This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns.

Full Name

RNA binding motif protein X-linked

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.

Biological Process

Biological Process cellular response to interleukin-1Manual Assertion Based On ExperimentIDA:UniProtKB
Biological Process membrane protein ectodomain proteolysisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process mRNA splice site selectionIEA:Ensembl
Biological Process mRNA splicing, via spliceosome1 PublicationIC:UniProtKB
Biological Process negative regulation of mRNA splicing, via spliceosomeISS:UniProtKB
Biological Process osteoblast differentiationManual Assertion Based On ExperimentHDA:UniProtKB
Biological Process positive regulation of mRNA splicing, via spliceosomeISS:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process protein homooligomerizationISS:UniProtKB
Biological Process regulation of alternative mRNA splicing, via spliceosomeManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Nucleus
Component of ribonucleosomes. Localizes in numerous small granules in the nucleus.

Involvement in disease

Intellectual developmental disorder, X-linked, syndromic 11 (MRXS11):
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.

PTM

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.