RNF213

RNF213
Identifiers
Aliases RNF213, ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57, ring finger protein 213
External IDs MGI: 1289196 HomoloGene: 45439 GeneCards: RNF213
Orthologs
Species Human Mouse
Entrez

57674

672511

Ensembl

ENSG00000173821

ENSMUSG00000070327

UniProt

Q63HN8

E9Q555

RefSeq (mRNA)

NM_001256071
NM_020914
NM_020954

NM_001040005

RefSeq (protein)

NP_001243000.2
NP_066005.2

n/a

Location (UCSC) Chr 17: 80.26 – 80.4 Mb Chr 11: 119.39 – 119.49 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Ring finger protein 213 is a protein that in humans is encoded by the RNF213 gene.[3] RNF213 is a 591kDa cytosolic E3 Ubiquitin-ligase with RING finger and AAA+ ATPase domains.

Clinical relevance

A genome-wide association study identified RNF213 as the first gene associated to Moyamoya disease.[4] Given that oxygen and glucose consumption scales with total neuron number, RNF213 may have played a role in facilitating the evolution of larger brains in primates.

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. "Entrez Gene: ring finger protein 213".
  4. Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S (Jan 2011). "A genome-wide association study identifies RNF213 as the first Moyamoya disease gene". Journal of Human Genetics. 56 (1): 34–40. doi:10.1038/jhg.2010.132. PMID 21048783.

Further reading


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