NP_065965.4
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
64,260 Da
NCBI Official Synonym Full Names
ring finger protein 213
NCBI Official Synonym Symbols
ALO17; MYMY2; MYSTR; NET57; C17orf27; KIAA1618 [Similar Products]
NCBI Protein Information
E3 ubiquitin-protein ligase RNF213
UniProt Protein Name
E3 ubiquitin-protein ligase RNF213
UniProt Synonym Protein Names
ALK lymphoma oligomerization partner on chromosome 17
UniProt Entry Name
RN213_HUMAN
NCBI Summary for RNF213
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]
UniProt Comments for RNF213
RNF213: Probable E3 ubiquitin-protein ligase that may play a role in angiogenesis. May also have an ATPase activity. Defects in RNF213 are the cause of susceptibility to Moyamoya disease type 2 (MYMY2). 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. A chromosomal aberration involving ALO17 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 6.3.2.-; Oncoprotein; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component: cytoplasm; cytosol; membrane; nucleolus
Molecular Function: ATPase activity; ligase activity; protein binding; ubiquitin-protein ligase activity; zinc ion binding
Biological Process: angiogenesis; protein autoubiquitination; protein homooligomerization; protein polyubiquitination; protein ubiquitination; sprouting angiogenesis; ubiquitin-dependent protein catabolic process
Research Articles on RNF213
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Products associated with anti-RNF213 antibody
Pathways associated with anti-RNF213 antibody
Diseases associated with anti-RNF213 antibody
Organs/Tissues associated with anti-RNF213 antibody
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