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HUMAN:RN213

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) RNF213 (synonyms: ALO17, C17orf27, KIAA1554, KIAA1618, MYSTR)
Protein Name(s) E3 ubiquitin-protein ligase RNF213

ALK lymphoma oligomerization partner on chromosome 17 Mysterin RING finger protein 213

External Links
UniProt Q63HN8
EMBL AB537889
AL832920
AL833201
BX640932
BX647946
AC123764
AC124319
BC032220
BC036891
BC040341
AF397204
AF397205
AB046774
AB046838
AK023871
AK025676
AK025914
AK026038
AK074030
CCDS CCDS11772.1
CCDS58606.1
RefSeq NP_001243000.2
NP_066005.2
UniGene Hs.195642
Hs.740662
Hs.745415
ProteinModelPortal Q63HN8
BioGrid 121705
IntAct Q63HN8
PhosphoSite Q63HN8
DMDM 380865458
MaxQB Q63HN8
PaxDb Q63HN8
PRIDE Q63HN8
DNASU 57674
Ensembl ENST00000319921
GeneID 57674
KEGG hsa:57674
UCSC uc002jyf.4
uc021uen.2
CTD 57674
GeneCards GC17P078235
H-InvDB HIX0014240
HGNC HGNC:14539
HPA HPA003347
HPA026790
MIM 607151
613768
neXtProt NX_Q63HN8
Orphanet 2573
PharmGKB PA134898812
PA162401681
eggNOG NOG86922
GeneTree ENSGT00630000089884
HOGENOM HOG000185147
HOVERGEN HBG073493
InParanoid Q63HN8
OMA FLNQIGL
TreeFam TF343131
UniPathway UPA00143
ChiTaRS RNF213
GeneWiki RNF213
GenomeRNAi 57674
NextBio 64478
PMAP-CutDB Q9HCF4
PRO PR:Q63HN8
Proteomes UP000005640
Bgee Q63HN8
CleanEx HS_KIAA1618
ExpressionAtlas Q63HN8
Genevestigator Q9HCF4
GO GO:0005737
GO:0016020
GO:0016887
GO:0016874
GO:0004842
GO:0008270
GO:0006200
GO:0051865
GO:0016567
Gene3D 3.30.40.10
3.40.50.300
InterPro IPR003593
IPR027417
IPR018957
IPR001841
IPR013083
Pfam PF00097
SMART SM00382
SM00184
SUPFAM SSF52540
PROSITE PS50089

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

enables

GO:0016887

ATPase activity

PMID:26126547[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0001525

angiogenesis

PMID:26126547[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051260

protein homooligomerization

PMID:26126547[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0001525

angiogenesis

PMID:26278786[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0016887

ATPase activity

PMID:24658080[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0051260

protein homooligomerization

PMID:24658080[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0002040

sprouting angiogenesis

PMID:26766444[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006511

ubiquitin-dependent protein catabolic process

PMID:26766444[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:2000051

negative regulation of non-canonical Wnt signaling pathway

PMID:26766444[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

PMID:19946888[5]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0051865

protein autoubiquitination

PMID:21799892[6]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0016887

ATPase activity

PMID:21799892[6]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0016567

protein ubiquitination

PMID:21799892[6]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:21799892[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0004842

ubiquitin-protein transferase activity

PMID:21799892[6]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:2000051

negative regulation of non-canonical Wnt signaling pathway

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001098684
UniProtKB:Q63HN8

P

Seeded From UniProt

complete

involved_in

GO:0006511

ubiquitin-dependent protein catabolic process

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001098664
UniProtKB:Q63HN8

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001098684
UniProtKB:Q63HN8

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001098684
UniProtKB:Q63HN8

C

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001098684
UniProtKB:Q63HN8

C

Seeded From UniProt

complete

enables

GO:0004842

ubiquitin-protein transferase activity

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001098664
UniProtKB:Q63HN8

F

Seeded From UniProt

complete

involved_in

GO:0002040

sprouting angiogenesis

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001098684
UniProtKB:Q63HN8

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0004842

ubiquitin-protein transferase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR031248

F

Seeded From UniProt

complete

enables

GO:0016887

ATPase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR031248

F

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR018957

F

Seeded From UniProt

complete

enables

GO:0004842

ubiquitin-protein transferase activity

PMID:26766444[4]

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

Reactome:R-HSA-983157
Reactome:R-HSA-983156
Reactome:R-HSA-983147
Reactome:R-HSA-983140

ECO:0000304

author statement supported by traceable reference used in manual assertion




C

Seeded From UniProt

complete

involved_in

GO:0000209

protein polyubiquitination

Reactome:R-HSA-983168

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0001525

angiogenesis

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0037

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963

C

Seeded From UniProt

complete

enables

GO:0016787

hydrolase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0378

F

Seeded From UniProt

complete

enables

GO:0016740

transferase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0808

F

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0479

F

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0091

C

Seeded From UniProt

complete

involved_in

GO:0016567

protein ubiquitination

GO_REF:0000041

ECO:0000322

imported manually asserted information used in automatic assertion

UniPathway:UPA00143

P

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 Kobayashi, H et al. (2015) Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo. J Am Heart Assoc 4 PubMed GONUTS page
  2. ↑ Ohkubo, K et al. (2015) Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells. Sci Rep 5 13191 PubMed GONUTS page
  3. ↑ 3.0 3.1 Morito, D et al. (2014) Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state. Sci Rep 4 4442 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 4.3 Scholz, B et al. (2016) Endothelial RSPO3 Controls Vascular Stability and Pruning through Non-canonical WNT/Ca(2+)/NFAT Signaling. Dev. Cell 36 79-93 PubMed GONUTS page
  5. ↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
  6. ↑ 6.0 6.1 6.2 6.3 6.4 Liu, W et al. (2011) Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS ONE 6 e22542 PubMed GONUTS page
  7. ↑ 7.0 7.1 7.2 7.3 7.4 7.5 7.6 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
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