RNU4ATAC Gene Summary [Human]
The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]
Details
| Type | Small Nuclear RNA |
| Official Symbol | RNU4ATAC |
| Official Name | RNA, U4atac small nuclear (U12-dependent splicing) [Source:HGNC Symbol;Acc:HGNC:34016] |
| Ensembl ID | ENSG00000264229 |
| Bio databases IDs | |
| Aliases | RNA, U4atac small nuclear (U12-dependent splicing), RNA, U4atac small nuclear, U4atac snRNA |
| Synonyms | LWS, MOPD1, RFMN, RNA, U4atac small nuclear, RNU4ATAC1, TALS, U4ATAC |
| Species | Human, Homo sapiens |
Pathways
Biological processes and signaling networks where the RNU4ATAC gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Roifman syndrome
- osteodysplastic primordial dwarfism type 1
- Lowry Wood syndrome
- RNU4ATAC spectrum disorder
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RNU4ATAC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nuclear mRNA 5'-splice site recognition
- assembly of spliceosomal tri-snRNP
Cellular Component
Where in the cell the gene product is active
- U4atac snRNP
Molecular Function
What the gene product does at the molecular level
- U6atac snRNA binding
- pre-mRNA 5'-splice site binding