RBM28 Gene Summary [Human]
The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | RBM28 |
| Official Name | RNA binding motif protein 28 [Source:HGNC Symbol;Acc:HGNC:21863] |
| Ensembl ID | ENSG00000106344 |
| Bio databases IDs | |
| Aliases | RNA binding motif protein 28 |
| Synonyms | 2810480G15Rik, ANES, LOC100128576, MGC27345, NOP4, RNA binding motif protein 28 |
| 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 RBM28 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ELAV/HuD family splicing factor
- polyadenylate binding protein, human types 1, 2, 3, 4 family
- RNA recognition motif (RRM) superfamily
- RNA recognition motif
- 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
- non-insulin-dependent diabetes mellitus
- breast cancer
- organismal death
- renal clear cell adenocarcinoma
- renal clear cell cancer
- alopecia, neurologic defects, and endocrinopathy syndrome
- lung adenocarcinoma formation
- lung adenocarcinoma
- ovarian cancer
- colon cancer
role in cell
- expression in
- proliferation
- pluripotency
- autophagy
- autophagy 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
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RBM28 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA splicing
- mRNA processing
Cellular Component
Where in the cell the gene product is active
- spliceosomal complex
- nucleolus
Molecular Function
What the gene product does at the molecular level
- RNA binding