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ring finger protein 213

Summary

Gene Symbol

RNF213

Aliases

ALK lymphoma oligomerization partner on chromosome 17
ALO17
KIAA1554
NET57
mysterin

Organism

Homo sapiens (human)

External Links

NCBI Gene

57674

HGNC

14539

PubChem

57674

Alliance of Genome Resources

HGNC:14539

Annotation

Keyword

ATP-binding
Alternative splicing
Angiogenesis
Chromosomal rearrangement
Coiled coil
Cytoplasm
Disease variant
Hydrolase
Immunity
Isopeptide bond
Lipid droplet
Lipid metabolism
Multifunctional enzyme
Phosphoprotein
Proteomics identification
Proto-oncogene
Reference proteome
Transferase
Ubl conjugation
Ubl conjugation pathway
Zinc-finger

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q63HN8	ALK lymphoma oligomerization partner on chromosome 17 E3 ubiquitin-lipopolysaccharide ligase RNF213 Mysterin RING finger protein 213
A0A0A0MTR7

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 16 in total

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GO Term	Evidence Code	PMID
angiogenesis	IMP	26126547 26278786
sprouting angiogenesis	IMP	26766444
sprouting angiogenesis	IBA
immune system process	IEA
ubiquitin-dependent protein catabolic process	IMP	26766444

GO Hierarchy

biological process

immune system process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein conjugation [inference]

protein ubiquitination

protein polyubiquitination [inference]

protein K63-linked ubiquitination

protein autoubiquitination

catabolic process [inference]

cellular catabolic process [inference]

autophagy [inference]

macroautophagy [inference]

xenophagy

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

modification-dependent macromolecule catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process

cellular metabolic process [inference]

cellular catabolic process [inference]

autophagy [inference]

macroautophagy [inference]

xenophagy

cellular lipid metabolic process [inference]

lipid modification [inference]

lipid modification by small protein conjugation [inference]

lipid ubiquitination

primary metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

lipid modification [inference]

lipid modification by small protein conjugation [inference]

lipid ubiquitination

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein conjugation [inference]

protein ubiquitination

protein polyubiquitination [inference]

protein K63-linked ubiquitination

protein autoubiquitination

organic substance metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

lipid modification [inference]

lipid modification by small protein conjugation [inference]

lipid ubiquitination

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

modification-dependent macromolecule catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein conjugation [inference]

protein ubiquitination

protein polyubiquitination [inference]

protein K63-linked ubiquitination

protein autoubiquitination

macromolecule modification [inference]

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein conjugation [inference]

protein ubiquitination

protein polyubiquitination [inference]

protein K63-linked ubiquitination

protein autoubiquitination

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

proteolysis involved in protein catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein conjugation [inference]

protein ubiquitination

protein polyubiquitination [inference]

protein K63-linked ubiquitination

protein autoubiquitination

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

modification-dependent macromolecule catabolic process [inference]

modification-dependent protein catabolic process [inference]

ubiquitin-dependent protein catabolic process

cellular process [inference]

cellular metabolic process [inference]

cellular catabolic process [inference]

autophagy [inference]

macroautophagy [inference]

xenophagy

cellular lipid metabolic process [inference]

lipid modification [inference]

lipid modification by small protein conjugation [inference]

lipid ubiquitination

process utilizing autophagic mechanism [inference]

autophagy [inference]

macroautophagy [inference]

xenophagy

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

lipid droplet organization [inference]

lipid droplet formation

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

lipid droplet formation

cellular component assembly [inference]

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

lipid droplet formation

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

angiogenesis

sprouting angiogenesis

biological process involved in interspecies interaction between organisms [inference]

response to other organism [inference]

response to bacterium [inference]

defense response to bacterium

defense response to other organism [inference]

defense response to bacterium

response to stimulus [inference]

response to stress [inference]

defense response [inference]

defense response to other organism [inference]

defense response to bacterium

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to bacterium [inference]

defense response to bacterium

defense response to other organism [inference]

defense response to bacterium

response to biotic stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to bacterium [inference]

defense response to bacterium

defense response to other organism [inference]

defense response to bacterium

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of primary metabolic process [inference]

regulation of lipid metabolic process

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

regulation of Wnt signaling pathway [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

regulation of non-canonical Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

regulation of Wnt signaling pathway [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

regulation of non-canonical Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

regulation of Wnt signaling pathway [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

regulation of non-canonical Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of non-canonical Wnt signaling pathway

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
nucleolus	IDA
nucleolus	IBA
cytoplasm	IDA	21799892
lipid droplet	IDA	30705059
cytosol	TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

Displaying entries **1 - 5** of 14 in total

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GO Term	Evidence Code	PMID
DNA clamp loader activity
ubiquitin-protein transferase activity	TAS	26766444
ubiquitin-protein transferase activity	IDA	21799892
ubiquitin-protein transferase activity	IBA
protein binding	IPI	25416956

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

acyltransferase activity [inference]

aminoacyltransferase activity [inference]

ubiquitin-like protein transferase activity [inference]

ubiquitin-protein transferase activity

ubiquitin protein ligase activity

ubiquitin-like protein ligase activity [inference]

ubiquitin protein ligase activity

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

ATP hydrolysis activity

catalytic activity, acting on a protein [inference]

ubiquitin-like protein transferase activity [inference]

ubiquitin-protein transferase activity

ubiquitin protein ligase activity

ubiquitin-like protein ligase activity [inference]

ubiquitin protein ligase activity

ATP-dependent histone chaperone activity [inference]

catalytic activity, acting on a nucleic acid [inference]

catalytic activity, acting on DNA [inference]

ATP-dependent activity, acting on DNA [inference]

DNA clamp loader activity

DNA translocase activity [inference]

chromatin extrusion motor activity

ATP-dependent chromatin remodeler activity [inference]

ATP-dependent histone chaperone activity [inference]

cohesin loader activity

binding [inference]

protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

cation binding [inference]

metal ion binding

transition metal ion binding [inference]

zinc ion binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

molecular carrier activity [inference]

protein carrier chaperone [inference]

histone chaperone activity [inference]

H3-H4 histone complex chaperone activity [inference]

ATP-dependent H3-H4 histone complex chaperone activity

ATP-dependent histone chaperone activity [inference]

ATP-dependent activity [inference]

ATP-dependent activity, acting on DNA [inference]

DNA clamp loader activity

DNA translocase activity [inference]

chromatin extrusion motor activity

ATP-dependent chromatin remodeler activity [inference]

ATP-dependent histone chaperone activity [inference]

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

E3 ubiquitin-protein ligase

Functional Category

J: Translation, ribosomal structure and biogenesis
L: Replication, recombination and repair
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
metal ion binding

Displaying **all 3** entries
InterPro
AAA+ ATPase domain
E3 ubiquitin-protein ligase RNF213
P-loop containing nucleoside triphosphate hydrolase

Human Protein Atlas

ENSG00000173821

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:13099	Moyamoya disease	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying **all 9** entries
HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0001009	Telangiectasia
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0002119	Ventriculomegaly
HP:0002326	Transient ischemic attack
HP:0011834	Moyamoya phenomenon
HP:0100659	Abnormal cerebral vascular morphology

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:607151	Moyamoya disease 2
ORPHA:2573	Moyamoya disease

PubChem Disease

GHR Health Conditions

MedGen Diseases

Moyamoya disease 2

OMIM Phenotypes

MOYAMOYA DISEASE 2; MYMY2

KEGG Diseases

Moyamoya disease

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 46 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Danio rerio	57674	ZFIN:ZDB-GENE-110822-1
Rattus norvegicus	303735		RATNO03224
Pan troglodytes	454944		PANTR15623
Danio rerio	503775		DANRE32278
Bos taurus	509283		BOVIN13818
Mus musculus	672511		MOUSE04574
Macaca mulatta	718073		MACMU14537
Monodelphis domestica	100030710		MONDO13217
Equus caballus	100056407		HORSE03583
Callithrix jacchus	100412248		CALJA33501

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External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements