ZNF513 Gene Summary [Human]
The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Details
| Type | Protein Coding |
| Official Symbol | ZNF513 |
| Official Name | zinc finger protein 513 [Source:HGNC Symbol;Acc:HGNC:26498] |
| Ensembl ID | ENSG00000163795 |
| Bio databases IDs | |
| Aliases | zinc finger protein 513 |
| Synonyms | D430028M17Rik, HMFT0656, RP58, Zfp513, zinc finger protein 513 |
| 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 ZNF513 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- C2H2-type zinc-finger domain
- Zinc-finger double domain
- protein binding
- sequence-specific DNA binding
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ZNF513 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina development in camera-type eye
- positive regulation of transcription from RNA polymerase II promoter
- visual perception
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- metal ion binding
- transcription regulatory region sequence-specific DNA binding