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PMID:21799892

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Citation

Liu, W, Morito, D, Takashima, S, Mineharu, Y, Kobayashi, H, Hitomi, T, Hashikata, H, Matsuura, N, Yamazaki, S, Toyoda, A, Kikuta, K, Takagi, Y, Harada, KH, Fujiyama, A, Herzig, R, Krischek, B, Zou, L, Kim, JE, Kitakaze, M, Miyamoto, S, Nagata, K, Hashimoto, N and Koizumi, A (2011) Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS ONE 6:e22542

Abstract

Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese families, but the susceptibility gene is unknown.

Links

PubMed PMC3140517 Online version:10.1371/journal.pone.0022542

Keywords

3' Untranslated Regions/genetics; Adult; Alleles; Animals; Base Sequence; Blood Vessels/metabolism; Blood Vessels/physiopathology; Case-Control Studies; Cloning, Molecular; DNA Copy Number Variations/genetics; DNA, Complementary/genetics; Exome/genetics; Exons/genetics; Female; Gene Expression Regulation; Gene Knockdown Techniques; Genetic Predisposition to Disease/genetics; HEK293 Cells; HeLa Cells; Humans; Linkage Disequilibrium/genetics; Male; Molecular Sequence Data; Moyamoya Disease/ethnology; Moyamoya Disease/genetics; Moyamoya Disease/physiopathology; Open Reading Frames/genetics; Sequence Homology, Amino Acid; Ubiquitin-Protein Ligases/deficiency; Ubiquitin-Protein Ligases/genetics; Ubiquitin-Protein Ligases/metabolism; Zebrafish

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

DANRE:R213A

involved_in

GO:0002040: sprouting angiogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110822-13,ZFIN:ZDB-MRPHLNO-110822-14

P

Seeded From UniProt

complete

DANRE:R213A

involved_in

GO:0002040: sprouting angiogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110822-11,ZFIN:ZDB-MRPHLNO-110822-12

P

Seeded From UniProt

complete

HUMAN:RN213

located_in

GO:0005737: cytoplasm

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:RN213

enables

GO:0016887: ATP hydrolysis activity

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:RN213

enables

GO:0004842: ubiquitin-protein transferase activity

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:RN213

involved_in

GO:0016567: protein ubiquitination

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:RN213

part_of

GO:0005737: cytoplasm

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:RN213

enables

GO:0016887: ATPase activity

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:RN213

involved_in

GO:0051865: protein autoubiquitination

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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