RBM8A Gene Summary [Human]
This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]
Details
| Type | Retained Intron |
| Official Symbol | RBM8A |
| Official Name | RNA binding motif protein 8A [Source:HGNC Symbol;Acc:HGNC:9905] |
| Ensembl ID | ENSG00000265241 |
| Bio databases IDs | |
| Aliases | RNA binding motif protein 8A, binder of OVCA1 |
| Synonyms | 2310057C03Rik, BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, RBM8B, RNA binding motif protein 8A, TAR, Y14, ZNRP, ZRNP1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RBM8A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA recognition motif (RRM) superfamily
- RNA recognition motif
- mRNA binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- intellectual disability and developmental delay
- thrombocytopenia-absent radius syndrome
- Rett syndrome
role in cell
- expression in
- phosphorylation in
- cell death
- cell viability
- production in
- degradation in
- alternative splicing by
- splicing by
- alternative splicing in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- catalytic step 2 spliceosome
- Cytoplasm
- cytosol
- spliceosomes
- inner nuclear membrane
- nucleoplasm
- interchromatin granule clusters
- nuclear speckles
- perikaryon
- dendrites
- paraspeckle-like structures
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RBM8A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of translation
- mRNA export from nucleus
- RNA splicing
- regulation of mRNA processing
- nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
- regulation of alternative nuclear mRNA splicing, via spliceosome
- regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- dendrite
- nucleus
- exon-exon junction complex
- catalytic step 2 spliceosome
- cytoplasm
- nuclear speck
- U2-type catalytic step 1 spliceosome
- cytosol
- neuronal cell body
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- mRNA binding