Human ring finger protein 213 ELISA Kit | RNF213 elisa kit

Human RING finger protein 213, RNF213 ELISA Kit

Cat. Num. AAA9342674

• Gene Names: RNF213; ALO17; MYMY2; MYSTR; NET57; C17orf27; KIAA1618
• Reactivity: Human
• Synonyms: ring finger protein 213; Human RING finger protein 213; RNF213 ELISA Kit; Human RING finger protein 213 (RNF213) ELISA kit; hCG_1812857; C17orf27; DKFZp762N1115; FLJ13051; KIAA1554; KIAA1618; MGC46622; MGC9929; NET57; ; RNF213 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 597709777
• NCBI GeneID: 57674
• NCBI Accession #: NP_001243000.2
• NCBI GenBank Nucleotide #: NM_001256071.2
• UniProt Accession #: Q63HN8; Q658P6; Q69YK7; Q6MZR1; Q8IWF4; Q8IZX1; Q8IZX2; Q8N406; Q8TEU0; C9JCP4; D6RI12; F8WKS1
• Molecular Weight: 591,407 Da
• NCBI Official Full Name: E3 ubiquitin-protein ligase RNF213 isoform 3
• NCBI Official Synonym Full Names: ring finger protein 213
• NCBI Official Symbol: RNF213
• NCBI Official Synonym Symbols: ALO17; MYMY2; MYSTR; NET57; C17orf27; KIAA1618
• NCBI Protein Information: E3 ubiquitin-protein ligase RNF213; mysterin; ALK lymphoma oligomerization partner on chromosome 17
• UniProt Protein Name: E3 ubiquitin-protein ligase RNF213
• Protein Family: E3 ubiquitin-protein ligase
• UniProt Gene Name: RNF213
• UniProt Synonym Gene Names: ALO17; C17orf27; KIAA1554; KIAA1618; MYSTR
• UniProt Entry Name: RN213_HUMAN

NCBI Description

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 Description

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.-; Ubiquitin conjugating system; Oncoprotein

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: membrane; cytoplasm; nucleolus

Molecular Function: zinc ion binding; ATPase activity; ubiquitin-protein ligase activity; ligase activity

Biological Process: protein autoubiquitination; protein ubiquitination