RBMX
Description
The RBMX (RNA binding motif protein X-linked) is a protein-coding gene located on chromosome X.
RBMX, the human gene encoding Heterogeneous nuclear ribonucleoprotein G, belongs to the RBMY gene family, known for candidate Y chromosome spermatogenesis genes. While RBMY evolved a male-specific function in spermatogenesis, RBMX, as an active X chromosome homolog, exhibits widespread expression. Pseudogenes of RBMX, located on chromosomes 1, 4, 9, 11, and 6, likely originated from retrotransposition of the original gene. Multiple transcript variants, encoding different isoforms, have been identified, but their biological significance remains unclear.
RBMX is a RNA-binding protein involved in regulating both pre- and post-transcriptional processes. It plays a role in tissue-specific gene transcription regulation and alternative splicing of multiple pre-mRNAs. It binds to and stimulates transcription from the TXNIP tumor suppressor gene promoter, potentially contributing to tumor suppression. In association with SAFB, it stimulates transcription from the SREBF1 promoter. RBMX associates with newly transcribed mRNAs by RNA polymerase II. As a component of the supraspliceosome complex, it regulates alternative splice site selection in pre-mRNAs. It can activate or suppress exon inclusion, working additively with TRA2B to promote exon 7 inclusion in the SMN2 gene. RBMX represses splicing of the MAPT/Tau exon 10. It preferentially binds to single-stranded 5'-CC[A/C]-rich RNA sequences in a single-stranded conformation, likely as a homodimer. RBMX also binds nonspecifically to pre-mRNAs. Additionally, it participates in cytoplasmic TNFR1 trafficking pathways, promoting IL-1-beta-mediated proteolytic cleavage of TNFR1 ectodomains and the release of TNFR1 exosome-like vesicles into the extracellular space.
RBMX is also known as HNRNPG, HNRPG, MRXS11, MRXSG, MRXSH, RBMXP1, RBMXRT, RNMX, hnRNP-G.
Associated Diseases
- Mental retardation with optic atrophy, deafness, and seizures
- X-linked intellectual disability, Shashi type
- Mental retardation, X-linked, syndromic 11
