RNF213 Gene Summary [Human]
This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | RNF213 |
| Official Name | ring finger protein 213 [Source:HGNC Symbol;Acc:HGNC:14539] |
| Ensembl ID | ENSG00000173821 |
| Bio databases IDs | |
| Aliases | ring finger protein 213, mysterin, ALK lymphoma oligomerization partner on chromosome 17 |
| Synonyms | 6030403J01, ALO17, C17ORF27, D11Ertd759e, FRAG-6, KIAA1554, KIAA1618, LOC100287062, MYMY2, mysterin, MYSTR, NET57, RGD1308168, ring finger protein 213 |
| 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 RNF213 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase activity
- zinc finger of C3HC4-type, RING
- Family of unknown function (DUF6539)
- enzyme
- protein binding
- ATPase
- RING-type zinc-finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ring finger
- ubiquitin-protein transferase activity
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
- Zinc finger, C3HC4 type (RING finger)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- susceptibility to moyamoya disease type 2
- Moyamoya disease
- familial multiple sclerosis
- hereditary disorder
- epithelial cancer
- major depression
- headache
- prostate cancer
- Huntington disease
- migraines
regulates
- Ins1
- lipid
- D-glucose
role in cell
- formation
- lipotoxicity 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.
- Cytoplasm
- pH resistant lipid raft fraction
- lipid droplets
- cytosol
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RNF213 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- angiogenesis
- negative regulation of non-canonical Wnt receptor signaling pathway
- sprouting angiogenesis
- protein K63-linked ubiquitination
- regulation of lipid metabolic process
- defense response to bacterium
- immune system process
- protein autoubiquitination
- ubiquitin-dependent protein catabolic process
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- lipid particle
- cytoplasm
- membrane
- cytosol
- nucleolus
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- ubiquitin-protein ligase activity
- metal ion binding