Version 5.4
Homo sapiens Protein: RNF213
Summary
InnateDB Protein IDBP-71632.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RNF213
Protein Name ring finger protein 213
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000324392
InnateDB Gene IDBG-71708 (RNF213)
Protein Structure
UniProt Annotation
Function Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:21799892}.
Disease Associations Moyamoya disease 2 (MYMY2) [MIM:607151]: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. {ECO:0000269PubMed:21048783, ECO:0000269PubMed:21799892}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Note=A chromosomal aberration involving ALO17 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK.
Tissue Specificity Widely expressed (at protein level). {ECO:0000269PubMed:21799892}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0004842 ubiquitin-protein transferase activity
GO:0008270 zinc ion binding
GO:0016874 ligase activity
GO:0016887 ATPase activity
Biological Process
GO:0006200 ATP catabolic process
GO:0016567 protein ubiquitination
GO:0051865 protein autoubiquitination
Cellular Component
GO:0005737 cytoplasm
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q63HN8
PhosphoSite PhosphoSite-Q63HN8
TrEMBL Q9H932
UniProt Splice Variant
Entrez Gene 57674
UniGene Hs.743310
RefSeq NP_066005
HUGO HGNC:14539
OMIM 613768
CCDS CCDS11772
HPRD 10716
IMGT
EMBL AB046774 AB046838 AB537889 AC123764 AC124319 AF397204 AF397205 AK023113 AK023871 AK025676 AK025914 AK026038 AK074030 AL832920 AL833201 BC032220 BC036891 BC040341 BX640932 BX647946
GenPept AAH32220 AAH36891 AAH40341 AAN63520 AAN63521 BAB13380 BAB13444 BAB14411 BAB14708 BAB15212 BAB15280 BAB15330 BAB84856 BAK53191 CAE45967 CAH10615 CAH56189 CAH56308

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca