GEMIN5 Gene Summary [Human]
This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Details
| Type | Protein Coding |
| Official Symbol | GEMIN5 |
| Official Name | gem nuclear organelle associated protein 5 [Source:HGNC Symbol;Acc:HGNC:20043] |
| Ensembl ID | ENSG00000082516 |
| Bio databases IDs | |
| Aliases | gem nuclear organelle associated protein 5 |
| Synonyms | AA407055, AA407208, AI451603, C330013N08, gem (nuclear organelle) associated protein 5, gem nuclear organelle associated protein 5, LOC100361440, LOC686616, NEDCAM |
| 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 GEMIN5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Anaphase-promoting complex subunit 4 WD40 domain
- U1 snRNA binding
- snRNA binding
- RNA 7-methylguanosine cap binding
- mRNA 3' UTR binding
- U4 snRNA binding
- WD40 repeats
- WD domain, G-beta repeat
- ribosome binding
- WD40
- protein binding
- U4atac snRNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- venous thromboembolism
- neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
role in cell
- motility
- splicing by
- translation 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
- Cytoplasm
- cytosol
- gems
- nuclear foci
- nucleoplasm
- nuclear bodies
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GEMIN5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of translation
- macromolecular complex assembly
- spliceosomal snRNP assembly
- nuclear mRNA splicing, via spliceosome
- translation
Cellular Component
Where in the cell the gene product is active
- SMN-Gemin2 complex
- nucleus
- nuclear body
- cytoplasm
- SMN-Sm protein complex
- membrane
- cytosol
- SMN complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA 7-methylguanosine cap binding
- RNA binding
- protein binding
- ribosome binding
- U1 snRNA binding
- snRNA binding
- U4atac snRNA binding
- mRNA 3'-UTR binding
- U4 snRNA binding