InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RNF213

Summary

InnateDB Protein

IDBP-764030.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RNF213

Protein Name

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000464087

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:0005515	protein binding
GO:0005524	ATP binding
GO:0008270	zinc ion binding
GO:0016874	ligase activity
GO:0016887	ATPase activity
GO:0017111	nucleoside-triphosphatase activity