GEMIN4 Gene Summary [Human]
The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GEMIN4 |
| Official Name | gem nuclear organelle associated protein 4 [Source:HGNC Symbol;Acc:HGNC:15717] |
| Ensembl ID | ENSG00000179409 |
| Bio databases IDs | |
| Aliases | gem nuclear organelle associated protein 4, HCC-associated protein 1, component of gems 4 |
| Synonyms | 4932415L08Rik, AU015359, gem (nuclear organelle) associated protein 4, gem nuclear organelle associated protein 4, HC56, HCAP1, HHRF-1, NEDMCR, p97, RGD1563715 |
| 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 GEMIN4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ribonucleoprotein 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
- renal cell carcinoma
- neurodevelopmental disorder with microcephaly, cataracts and renal abnormalities
- renal cell cancer
- colon carcinoma
- colon epithelial cancer
- adult T-cell leukemia/lymphoma
- mature T-cell neoplasia
- T-cell non-Hodgkin disease
regulated by
- lipopolysaccharide
- THP-1 cells
- mir-27 (includes others)
- HeLa cells
- bee venom
- mir-23 (includes others)
regulates
- BCL2L1
- snRNP
role in cell
- 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
- polyribosome fractions
- Cytoplasm
- cytosol
- gems
- nucleoplasm
- nucleoli
- nuclear bodies
- Cajal bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GEMIN4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- rRNA processing
- spliceosomal snRNP assembly
Cellular Component
Where in the cell the gene product is active
- nuclear body
- extracellular vesicular exosome
- cytoplasm
- SMN-Sm protein complex
- membrane
- Cajal body
- cytosol
- small nuclear ribonucleoprotein complex
- nucleolus
- SMN complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- ribonucleoprotein complex binding