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Entry version 150 (18 Sep 2019)
Sequence version 3 (21 Mar 2012)
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Protein

E3 ubiquitin-protein ligase RNF213

Gene

RNF213

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

E3 ubiquitin-protein ligase involved in angiogenesis (PubMed:21799892, PubMed:26278786, PubMed:26766444, PubMed:26126547). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity (PubMed:24658080, PubMed:26126547).5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri3997 – 4036RING-typePROSITE-ProRule annotationAdd BLAST40

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Transferase
Biological processAngiogenesis, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00143

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
E3 ubiquitin-protein ligase RNF213Curated (EC:2.3.2.271 Publication, EC:3.6.4.-1 Publication)
Alternative name(s):
ALK lymphoma oligomerization partner on chromosome 171 Publication
Mysterin1 Publication
RING finger protein 213Curated
RING-type E3 ubiquitin transferase RNF213Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RNF213Imported
Synonyms:ALO171 Publication, C17orf27Imported, KIAA15541 Publication, KIAA16181 Publication, MYSTR1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Unplaced

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14539 RNF213

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613768 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q63HN8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Moyamoya disease 2 (MYMY2)9 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0670244013D → N in MYMY2; variant detected in cases of Moyamoya disease in Caucasian and Asian populations; inhibitory effect on angiogenic activity of vascular endothelial cells. 3 Publications1
Natural variantiVAR_0670264399A → T in MYMY2. 2 PublicationsCorresponds to variant dbSNP:rs148731719EnsemblClinVar.1
Natural variantiVAR_0670304810R → K in MYMY2; very frequent in individuals affected by Moyamoya disease; strongly increases the risk of Moyamoya disease; induces genomic instability; shows decreased ATPase activity, possibly caused by stabilization of the oligomeric state. 7 Publications1
A chromosomal aberration involving RNF213 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi2426K → A: Decreased ATPase activity. 1 Publication1
Mutagenesisi2488E → A: Decreased ATPase activity. 1 Publication1
Mutagenesisi2488E → Q: Loss of ATPase hydrolysis. Stabilization of the oligomeric state. Inhibited angiogenesis. 1 Publication1
Mutagenesisi2775K → A: Decreased ATPase activity. 1 Publication1
Mutagenesisi2845E → A: Decreased ATPase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
57674

MalaCards human disease database

More...
MalaCardsi
RNF213
MIMi607151 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000173821

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2573 Moyamoya disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134898812
PA162401681

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RNF213

Domain mapping of disease mutations (DMDM)

More...
DMDMi
380865458

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00004159171 – 5207E3 ubiquitin-protein ligase RNF213Add BLAST5207

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei208PhosphoserineCombined sources1
Modified residuei217PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki1151Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1258PhosphoserineCombined sources1
Modified residuei2273PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Autoubiquitinated.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q63HN8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q63HN8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q63HN8

MaxQB - The MaxQuant DataBase

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MaxQBi
Q63HN8

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q63HN8

PeptideAtlas

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PeptideAtlasi
Q63HN8

PRoteomics IDEntifications database

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PRIDEi
Q63HN8

ProteomicsDB human proteome resource

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ProteomicsDBi
65884 [Q63HN8-3]
65885 [Q63HN8-4]
65886 [Q63HN8-5]
65887 [Q63HN8-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q63HN8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q63HN8

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q63HN8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed (at protein level).1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated by let-7c miRNA, which binds to the 3'-UTR transcript of RNF213 (PubMed:26070522). Induced by pro-inflammatory cytokines (PubMed:26278786).2 Publications
(Microbial infection) Is up-regulated in macrophages infected by M.tuberculosis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000173821 Expressed in 193 organ(s), highest expression level in adult mammalian kidney

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q63HN8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q63HN8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA003347
HPA026790

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer; probably forms homohexamers.

2 Publications

(Microbial infection)

Interacts with M.tuberculosis protein Rv3655c, which impairs caspase-8 activation and suppresses macrophage apoptosis by blocking the extrinsic pathway.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121705, 48 interactors

Protein interaction database and analysis system

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IntActi
Q63HN8, 42 interactors

Molecular INTeraction database

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MINTi
Q63HN8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000464087

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q63HN8

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili343 – 374Sequence analysisAdd BLAST32

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The RING-type zinc finger domain is required for the ubiquitin-protein ligase activity.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the AAA ATPase family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri3997 – 4036RING-typePROSITE-ProRule annotationAdd BLAST40

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IE7S Eukaryota
ENOG410Z1EV LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00630000089884

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000154163

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q63HN8

KEGG Orthology (KO)

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KOi
K22754

Database of Orthologous Groups

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OrthoDBi
840at2759

TreeFam database of animal gene trees

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TreeFami
TF343131

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR027417 P-loop_NTPase
IPR031248 RNF213
IPR018957 Znf_C3HC4_RING-type
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD

The PANTHER Classification System

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PANTHERi
PTHR22605 PTHR22605, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF00097 zf-C3HC4, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00382 AAA, 2 hits
SM00184 RING, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50089 ZF_RING_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q63HN8-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MECPSCQHVS KEETPKFCSQ CGERLPPAAP IADSENNNST MASASEGEME
60 70 80 90 100
CGQELKEEGG PCLFPGSDSW QENPEEPCSK ASWTVQESKK KKRKKKKKGN
110 120 130 140 150
KSASSELASL PLSPASPCHL TLLSNPWPQD TALPHSQAQQ SGPTGQPSQP
160 170 180 190 200
PGTATTPLEG DGLSAPTEVG DSPLQAQALG EAGVATGSEA QSSPQFQDHT
210 220 230 240 250
EGEDQDASIP SGGRGLSQEG TGPPTSAGEG HSRTEDAAQE LLLPESKGGS
260 270 280 290 300
SEPGTELQTT EQQAGASASM AVDAVAEPAN AVKGAGKEMK EKTQRMKQPP
310 320 330 340 350
ATTPPFKTHC QEAETKTKDE MAAAEEKVGK NEQGEPEDLK KPEGKNRSAA
360 370 380 390 400
AVKNEKEQKN QEADVQEVKA STLSPGGGVT VFFHAIISLH FPFNPDLHKV
410 420 430 440 450
FIRGGEEFGE SKWDSNICEL HYTRDLGHDR VLVEGIVCIS KKHLDKYIPY
460 470 480 490 500
KYVIYNGESF EYEFIYKHQQ KKGEYVNRCL FIKSSLLGSG DWHQYYDIVY
510 520 530 540 550
MKPHGRLQKV MNHITDGPRK DLVKGKQIAA ALMLDSTFSI LQTWDTINLN
560 570 580 590 600
SFFTQFEQFC FVLQQPMIYE GQAQLWTDLQ YREKEVKRYL WQHLKKHVVP
610 620 630 640 650
LPDGKSTDFL PVDCPVRSKL KTGLIVLFVV EKIELLLEGS LDWLCHLLTS
660 670 680 690 700
DASSPDEFHR DLSHILGIPQ SWRLYLVNLC QRCMDTRTYT WLGALPVLHC
710 720 730 740 750
CMELAPRHKD AWRQPEDTWA ALEGLSFSPF REQMLDTSSL LQFMREKQHL
760 770 780 790 800
LSIDEPLFRS WFSLLPLSHL VMYMENFIEH LGRFPAHILD CLSGIYYRLP
810 820 830 840 850
GLEQVLNTQD VQDVQNVQNI LEMLLRLLDT YRDKIPEEAL SPSYLTVCLK
860 870 880 890 900
LHEAICSSTK LLKFYELPAL SAEIVCRMIR LLSLVDSAGQ RDETGNNSVQ
910 920 930 940 950
TVFQGTLAAT KRWLREVFTK NMLTSSGASF TYVKEIEVWR RLVEIQFPAE
960 970 980 990 1000
HGWKESLLGD MEWRLTKEEP LSQITAYCNS CWDTKGLEDS VAKTFEKCII
1010 1020 1030 1040 1050
EAVSSACQSQ TSILQGFSYS DLRKFGIVLS AVITKSWPRT ADNFNDILKH
1060 1070 1080 1090 1100
LLTLADVKHV FRLCGTDEKI LANVTEDAKR LIAVADSVLT KVVGDLLSGT
1110 1120 1130 1140 1150
ILVGQLELII KHKNQFLDIW QLREKSLSPQ DEQCAVEEAL DWRREELLLL
1160 1170 1180 1190 1200
KKEKRCVDSL LKMCGNVKHL IQVDFGVLAV RHSQDLSSKR LNDTVTVRLS
1210 1220 1230 1240 1250
TSSNSQRATH YHLSSQVQEM AGKIDLLRDS HIFQLFWREA AEPLSEPKED
1260 1270 1280 1290 1300
QEAAELLSEP EEESERHILE LEEVYDYLYQ PSYRKFIKLH QDLKSGEVTL
1310 1320 1330 1340 1350
AEIDVIFKDF VNKYTDLDSE LKIMCTVDHQ DQRDWIKDRV EQIKEYHHLH
1360 1370 1380 1390 1400
QAVHAAKVIL QVKESLGLNG DFSVLNTLLN FTDNFDDFRR ETLDQINQEL
1410 1420 1430 1440 1450
IQAKKLLQDI SEARCKGLQA LSLRKEFICW VREALGGINE LKVFVDLASI
1460 1470 1480 1490 1500
SAGENDIDVD RVACFHDAVQ GYASLLFKLD PSVDFSAFMK HLKKLWKALD
1510 1520 1530 1540 1550
KDQYLPRKLC DSARNLEWLK TVNESHGSVE RSSLTLATAI NQRGIYVIQA
1560 1570 1580 1590 1600
PKGGQKISPD TVLHLILPES PGSHEESREY SLEEVKELLN KLMLMSGKKD
1610 1620 1630 1640 1650
RNNTEVERFS EVFCSVQRLS QAFIDLHSAG NMLFRTWIAM AYCSPKQGVS
1660 1670 1680 1690 1700
LQMDFGLDLV TELKEGGDVT ELLAALCRQM EHFLDSWKRF VTQKRMEHFY
1710 1720 1730 1740 1750
LNFYTAEQLV YLSTELRKQP PSDAALTMLS FIKSNCTLRD VLRASVGCGS
1760 1770 1780 1790 1800
EAARYRMRRV MEELPLMLLS EFSLVDKLRI IMEQSMRCLP AFLPDCLDLE
1810 1820 1830 1840 1850
TLGHCLAHLA GMGGSPVERC LPRGLQVGQP NLVVCGHSEV LPAALAVYMQ
1860 1870 1880 1890 1900
TPSQPLPTYD EVLLCTPATT FEEVALLLRR CLTLGSLGHK VYSLLFADQL
1910 1920 1930 1940 1950
SYEVARQAEE LFHNLCTQQH REDYQLVMVC DGDWEHCYLP SAFSQHKVFV
1960 1970 1980 1990 2000
TPQAPLEAIQ AYLAGHYRVP KQTLSAAAVF NDRLCVGIVA SERAGVGKSL
2010 2020 2030 2040 2050
YVKRLHDKMK MQLNVKNVPL KTIRLIDPQV DESRVLGALL PFLDAQYQKV
2060 2070 2080 2090 2100
PVLFHLDVTS SVQTGIWVFL FKLLILQYLM DINGKMWLRN PCHLYIVEIL
2110 2120 2130 2140 2150
ERRTSVPSRS SSALRTRVPQ FSFLDIFPKV TCRPPKEVID MELSALRSDT
2160 2170 2180 2190 2200
EPGMDLWEFC SETFQRPYQY LRRFNQNQDL DTFQYQEGSV EGTPEECLQH
2210 2220 2230 2240 2250
FLFHCGVINP SWSELRNFAR FLNYQLRDCE ASLFCNPSFI GDTLRGFKKF
2260 2270 2280 2290 2300
VVTFMIFMAR DFATPSLHTS DQSPGKHMVT MDGVREEDLA PFSLRKRWES
2310 2320 2330 2340 2350
EPHPYVFFND DHTTMTFIGF HLQPNINGSV DAISHLTGKV IKRDVMTRDL
2360 2370 2380 2390 2400
YQGLLLQRVP FNVDFDKLPR HKKLERLCLT LGIPQATDPD KTYELTTDNM
2410 2420 2430 2440 2450
LKILAIEMRF RCGIPVIIMG ETGCGKTRLI KFLSDLRRGG TNADTIKLVK
2460 2470 2480 2490 2500
VHGGTTADMI YSRVREAENV AFANKDQHQL DTILFFDEAN TTEAISCIKE
2510 2520 2530 2540 2550
VLCDHMVDGQ PLAEDSGLHI IAACNPYRKH SEEMICRLES AGLGYRVSME
2560 2570 2580 2590 2600
ETADRLGSIP LRQLVYRVHA LPPSLIPLVW DFGQLSDVAE KLYIQQIVQR
2610 2620 2630 2640 2650
LVESISLDEN GTRVITEVLC ASQGFMRKTE DECSFVSLRD VERCVKVFRW
2660 2670 2680 2690 2700
FHEHSAMLLA QLNAFLSKSS VSKNHTERDP VLWSLMLAIG VCYHASLEKK
2710 2720 2730 2740 2750
DSYRKAIARF FPKPYDDSRL LLDEITRAQD LFLDGVPLRK TIAKNLALKE
2760 2770 2780 2790 2800
NVFMMVVCIE LKIPLFLVGK PGSSKSLAKT IVADAMQGPA AYSDLFRSLK
2810 2820 2830 2840 2850
QVHLVSFQCS PHSTPQGIIS TFRQCARFQQ GKDLQQYVSV VVLDEVGLAE
2860 2870 2880 2890 2900
DSPKMPLKTL HPLLEDGCIE DDPAPHKKVG FVGISNWALD PAKMNRGIFV
2910 2920 2930 2940 2950
SRGSPNETEL IESAKGICSS DILVQDRVQG YFASFAKAYE TVCKRQDKEF
2960 2970 2980 2990 3000
FGLRDYYSLI KMVFAAAKAS NRKPSPQDIA QAVLRNFSGK DDIQALDIFL
3010 3020 3030 3040 3050
ANLPEAKCSE EVSPMQLIKQ NIFGPSQKVP GGEQEDAESR YLLVLTKNYV
3060 3070 3080 3090 3100
ALQILQQTFF EGDQQPEIIF GSGFPKDQEY TQLCRNINRV KICMETGKMV
3110 3120 3130 3140 3150
LLLNLQNLYE SLYDALNQYY VHLGGQKYVD LGLGTHRVKC RVHPNFRLIV
3160 3170 3180 3190 3200
IEEKDVVYKH FPIPLINRLE KHYLDINTVL EKWQKSIVEE LCAWVEKFIN
3210 3220 3230 3240 3250
VKAHHFQKRH KYSPSDVFIG YHSDACASVV LQVIERQGPR ALTEELHQKV
3260 3270 3280 3290 3300
SEEAKSILLN CATPDAVVRL SAYSLGGFAA EWLSQEYFHR QRHNSFADFL
3310 3320 3330 3340 3350
QAHLHTADLE RHAIFTEITT FSRLLTSHDC EILESEVTGR APKPTLLWLQ
3360 3370 3380 3390 3400
QFDTEYSFLK EVRNCLTNTA KCKILIFQTD FEDGIRSAQL IASAKYSVIN
3410 3420 3430 3440 3450
EINKIRENED RIFVYFITKL SRVGRGTAYV GFHGGLWQSV HIDDLRRSTL
3460 3470 3480 3490 3500
MVSDVTRLQH VTISQLFAPG DLPELGLEHR AEDGHEEAME TEASTSGEVA
3510 3520 3530 3540 3550
EVAEEAMETE SSEKVGKETS ELGGSDVSIL DTTRLLRSCV QSAVGMLRDQ
3560 3570 3580 3590 3600
NESCTRNMRR VVLLLGLLNE DDACHASFLR VSKMRLSVFL KKQEESQFHP
3610 3620 3630 3640 3650
LEWLAREACN QDALQEAGTF RHTLWKRVQG AVTPLLASMI SFIDRDGNLE
3660 3670 3680 3690 3700
LLTRPDTPPW ARDLWMFIFS DTMLLNIPLV MNNERHKGEM AYIVVQNHMN
3710 3720 3730 3740 3750
LSENASNNVP FSWKIKDYLE ELWVQAQYIT DAEGLPKKFV DIFQQTPLGR
3760 3770 3780 3790 3800
FLAQLHGEPQ QELLQCYLKD FILLTMRVST EEELKFLQMA LWSCTRKLKA
3810 3820 3830 3840 3850
ASEAPEEEVS LPWVHLAYQR FRSRLQNFSR ILTIYPQVLH SLMEARWNHE
3860 3870 3880 3890 3900
LAGCEMTLDA FAAMACTEML TRNTLKPSPQ AWLQLVKNLS MPLELICSDE
3910 3920 3930 3940 3950
HMQGSGSLAQ AVIREVRAQW SRIFSTALFV EHVLLGTESR VPELQGLVTE
3960 3970 3980 3990 4000
HVFLLDKCLR ENSDVKTHGP FEAVMRTLCE CKETASKTLS RFGIQPCSIC
4010 4020 4030 4040 4050
LGDAKDPVCL PCDHVHCLRC LRAWFASEQM ICPYCLTALP DEFSPAVSQA
4060 4070 4080 4090 4100
HREAIEKHAR FRQMCNSFFV DLVSTICFKD NAPPEKEVIE SLLSLLFVQK
4110 4120 4130 4140 4150
GRLRDAAQRH CEHTKSLSPF NDVVDKTPVI RSVILKLLLK YSFHDVKDYI
4160 4170 4180 4190 4200
QEYLTLLKKK AFITEDKTEL YMLFINCLED SILEKTSAYS RNDELNHLEE
4210 4220 4230 4240 4250
EGRFLKAYSP ASRGREPANE ASVEYLQEVA RIRLCLDRAA DFLSEPEGGP
4260 4270 4280 4290 4300
EMAKEKQCYL QQVKQFCIRV ENDWHRVYLV RKLSSQRGME FVQGLSKPGR
4310 4320 4330 4340 4350
PHQWVFPKDV VKQQGLRQDH PGQMDRYLVY GDEYKALRDA VAKAVLECKP
4360 4370 4380 4390 4400
LGIKTALKAC KTPQSQQSAY FLLTLFREVA ILYRSHNASL HPTPEQCEAV
4410 4420 4430 4440 4450
SKFIGECKIL SPPDISRFAT SLVDNSVPLL RAGPSDSNLD GTVTEMAIHA
4460 4470 4480 4490 4500
AAVLLCGQNE LLEPLKNLAF SPATMAHAFL PTMPEDLLAQ ARRWKGLERV
4510 4520 4530 4540 4550
HWYTCPNGHP CSVGECGRPM EQSICIDCHA PIGGIDHKPR DGFHLVKDKA
4560 4570 4580 4590 4600
DRTQTGHVLG NPQRRDVVTC DRGLPPVVFL LIRLLTHLAL LLGASQSSQA
4610 4620 4630 4640 4650
LINIIKPPVR DPKGFLQQHI LKDLEQLAKM LGHSADETIG VVHLVLRRLL
4660 4670 4680 4690 4700
QEQHQLSSRR LLNFDTELST KEMRNNWEKE IAAVISPELE HLDKTLPTMN
4710 4720 4730 4740 4750
NLISQDKRIS SNPVAKIIYG DPVTFLPHLP RKSVVHCSKI WSCRKRITVE
4760 4770 4780 4790 4800
YLQHIVEQKN GKERVPILWH FLQKEAELRL VKFLPEILAL QRDLVKQFQN
4810 4820 4830 4840 4850
VQQVEYSSIR GFLSKHSSDG LRQLLHNRIT VFLSTWNKLR RSLETNGEIN
4860 4870 4880 4890 4900
LPKDYCSTDL DLDTEFEILL PRRRGLGLCA TALVSYLIRL HNEIVYAVEK
4910 4920 4930 4940 4950
LSKENNSYSV DAAEVTELHV ISYEVERDLT PLILSNCQYQ VEEGRETVQE
4960 4970 4980 4990 5000
FDLEKIQRQI VSRFLQGKPR LSLKGIPTLV YRHDWNYEHL FMDIKNKMAQ
5010 5020 5030 5040 5050
DSLPSSVISA ISGQLQSYSD ACEVLSVVEV TLGFLSTAGG DPNMQLNVYT
5060 5070 5080 5090 5100
QDILQMGDQT IHVLKALNRC QLKHTIALWQ FLSAHKSEQL LRLHKEPFGE
5110 5120 5130 5140 5150
ISSRYKADLS PENAKLLSTF LNQTGLDAFL LELHEMIILK LKNPQTQTEE
5160 5170 5180 5190 5200
RFRPQWSLRD TLVSYMQTKE SEILPEMASQ FPEEILLASC VSVWKTAAVL

KWNREMR
Note: Major isoform detected in all tissues examined.
Length:5,207
Mass (Da):591,407
Last modified:March 21, 2012 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9BA6847099EE6E08
GO
Isoform 2 (identifier: Q63HN8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-87: E → EGATSEVLVDAAVDLISDEWEAANAIPSKRRKQDAAPLEAASVPSADCEQ

Note: Minor isoform with restricted expression. Gene prediction based on partial EST data.
Show »
Length:5,256
Mass (Da):596,486
Checksum:i91852BF88247BA13
GO
Isoform 3 (identifier: Q63HN8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1009-1063: SQTSILQGFS...LADVKHVFRL → VNNLSSWETD...SLAKGNGAEI
     1064-5207: Missing.

Show »
Length:1,063
Mass (Da):118,436
Checksum:i986D1CDBC23CAF87
GO
Isoform 4 (identifier: Q63HN8-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-4650: Missing.
     4651-4660: QEQHQLSSRR → MTRKSAPTSG

Note: No experimental confirmation available.
Show »
Length:557
Mass (Da):64,260
Checksum:i0D7EC6B179FCF7F2
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH32220 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB13444 differs from that shown. Probable cloning artifact.Curated
The sequence BAB14708 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15212 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15280 differs from that shown. Reason: Erroneous termination at position 4257. Translated as Gln.Curated
The sequence BAB15330 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH10615 differs from that shown. Reason: Frameshift at positions 211, 213, 221 and 266.Curated
The sequence CAH56189 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti270M → T in AAH36891 (PubMed:15489334).Curated1
Sequence conflicti270M → T in AAH40341 (PubMed:15489334).Curated1
Sequence conflicti321M → T in AAH36891 (PubMed:15489334).Curated1
Sequence conflicti321M → T in AAH40341 (PubMed:15489334).Curated1
Sequence conflicti369K → N in AAH36891 (PubMed:15489334).Curated1
Sequence conflicti1045N → D in BAK53191 (PubMed:21799892).Curated1
Sequence conflicti1045N → D in BAB13444 (PubMed:10997877).Curated1
Sequence conflicti1133Q → K in BAB13444 (PubMed:10997877).Curated1
Sequence conflicti1195V → M in BAB13444 (PubMed:10997877).Curated1
Sequence conflicti1272E → Q in BAB13444 (PubMed:10997877).Curated1
Sequence conflicti1331D → G in BAB13444 (PubMed:10997877).Curated1
Sequence conflicti3323R → G in CAH56189 (PubMed:17974005).Curated1
Sequence conflicti4220E → G in BAB15212 (PubMed:14702039).Curated1
Sequence conflicti4571D → G in BAB15280 (PubMed:14702039).Curated1
Sequence conflicti4853K → R in BAB15212 (PubMed:14702039).Curated1
Sequence conflicti4892N → S in BAB15212 (PubMed:14702039).Curated1
Sequence conflicti5139L → S in BAB15280 (PubMed:14702039).Curated1
Sequence conflicti5187L → P in BAB15330 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075635529Missing Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756361622A → V Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670202554D → E1 PublicationCorresponds to variant dbSNP:rs138516230Ensembl.1
Natural variantiVAR_0670213891M → V Rare variant detected in a sporadic case of Moyamoya disease. 1 Publication1
Natural variantiVAR_0670223915E → G1 PublicationCorresponds to variant dbSNP:rs61740658Ensembl.1
Natural variantiVAR_0756373922R → Q Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756383933V → M Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670233962N → D Variant detected in cases of Moyamoya disease in Caucasian populations. 1 Publication1
Natural variantiVAR_0756393997C → Y Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756404007P → R Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670244013D → N in MYMY2; variant detected in cases of Moyamoya disease in Caucasian and Asian populations; inhibitory effect on angiogenic activity of vascular endothelial cells. 3 Publications1
Natural variantiVAR_0756414019R → C Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population; associated with K-4042 in cases of Moyamoya disease in Slovakian and Czech populations; inhibitory effect on angiogenic activity of vascular endothelial cells. 2 Publications1
Natural variantiVAR_0795734042E → K Rare variant associated with C-4019 in cases of Moyamoya disease in Slovakian and Czech populations. 1 Publication1
Natural variantiVAR_0670254062R → Q Variant detected in cases of Moyamoya disease in Caucasian populations. 1 Publication1
Natural variantiVAR_0756424076I → V Rare variant detected in a sporadic case of Moyamoya disease in Asian population. 1 Publication1
Natural variantiVAR_0756434115Missing Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756444118S → F Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756454131R → C Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0795744146V → A Rare variant detected in cases of Moyamoya disease in Slovakian and Czech populations; inhibitory effect on angiogenic activity of vascular endothelial cells. 1 Publication1
Natural variantiVAR_0756464185K → T Found in a heterozygous family with heterogeneous intracerebral vasculopathy. 1 Publication1
Natural variantiVAR_0756474237D → E Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0756484367Q → L Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670264399A → T in MYMY2. 2 PublicationsCorresponds to variant dbSNP:rs148731719EnsemblClinVar.1
Natural variantiVAR_0670274567V → M Rare variant detected in a sporadic case of Moyamoya disease. 1 PublicationCorresponds to variant dbSNP:rs145282452Ensembl.1
Natural variantiVAR_0756494586T → P Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670284608P → S Variant detected in cases of Moyamoya disease in Caucasian populations. 1 Publication1
Natural variantiVAR_0756504631L → V Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0795754677W → L Rare polymorphism. 1 Publication1
Natural variantiVAR_0756514732K → T Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0670294765V → M Rare variant detected in a sporadic case of Moyamoya disease. 1 Publication1
Natural variantiVAR_0670304810R → K in MYMY2; very frequent in individuals affected by Moyamoya disease; strongly increases the risk of Moyamoya disease; induces genomic instability; shows decreased ATPase activity, possibly caused by stabilization of the oligomeric state. 7 Publications1
Natural variantiVAR_0670314863D → N Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication1
Natural variantiVAR_0670324950E → D Variant detected in cases of Moyamoya disease in East Asian populations and rare variant detected in a sporadic case of Moyamoya disease. 2 Publications1
Natural variantiVAR_0670335021A → V Variant detected in cases of Moyamoya disease in East Asian populations and rare variant detected in a sporadic case of Moyamoya disease. 2 PublicationsCorresponds to variant dbSNP:rs138130613Ensembl.1
Natural variantiVAR_0756525136M → I Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. 1 Publication1
Natural variantiVAR_0670345160D → E Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication1
Natural variantiVAR_0756535163V → I Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. 1 Publication1
Natural variantiVAR_0670355176E → G Variant detected in cases of Moyamoya disease in East Asian populations. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0424161 – 4650Missing in isoform 4. 1 PublicationAdd BLAST4650
Alternative sequenceiVSP_04241787E → EGATSEVLVDAAVDLISDEW EAANAIPSKRRKQDAAPLEA ASVPSADCEQ in isoform 2. Curated1
Alternative sequenceiVSP_0424181009 – 1063SQTSI…HVFRL → VNNLSSWETDSGSQLCSAMT QLRAMKHPLGLSSSANSEIG KWAPSSLAKGNGAEI in isoform 3. 2 PublicationsAdd BLAST55
Alternative sequenceiVSP_0424191064 – 5207Missing in isoform 3. 2 PublicationsAdd BLAST4144
Alternative sequenceiVSP_0424204651 – 4660QEQHQLSSRR → MTRKSAPTSG in isoform 4. 1 Publication10

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB537889 mRNA Translation: BAK53191.1
AL832920 mRNA Translation: CAH10615.1 Frameshift.
AL833201 mRNA Translation: CAH56308.1
BX640932 mRNA Translation: CAE45967.1
BX647946 mRNA Translation: CAH56189.1 Different initiation.
AC123764 Genomic DNA No translation available.
AC124319 Genomic DNA No translation available.
BC032220 mRNA Translation: AAH32220.1 Different initiation.
BC036891 mRNA Translation: AAH36891.1
BC040341 mRNA Translation: AAH40341.1
AF397204 mRNA Translation: AAN63520.1
AF397205 mRNA Translation: AAN63521.1
AB046774 mRNA Translation: BAB13380.1
AB046838 mRNA Translation: BAB13444.1 Sequence problems.
AK023871 mRNA Translation: BAB14708.1 Different initiation.
AK025676 mRNA Translation: BAB15212.1 Different initiation.
AK025914 mRNA Translation: BAB15280.1 Sequence problems.
AK026038 mRNA Translation: BAB15330.1 Different initiation.
AK074030 mRNA Translation: BAB84856.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11772.1 [Q63HN8-5]
CCDS58606.1 [Q63HN8-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001243000.2, NM_001256071.2
NP_066005.2, NM_020954.3 [Q63HN8-5]

Genome annotation databases

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57674

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57674

UCSC genome browser

More...
UCSCi
uc002jyf.5 human [Q63HN8-3]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB537889 mRNA Translation: BAK53191.1
AL832920 mRNA Translation: CAH10615.1 Frameshift.
AL833201 mRNA Translation: CAH56308.1
BX640932 mRNA Translation: CAE45967.1
BX647946 mRNA Translation: CAH56189.1 Different initiation.
AC123764 Genomic DNA No translation available.
AC124319 Genomic DNA No translation available.
BC032220 mRNA Translation: AAH32220.1 Different initiation.
BC036891 mRNA Translation: AAH36891.1
BC040341 mRNA Translation: AAH40341.1
AF397204 mRNA Translation: AAN63520.1
AF397205 mRNA Translation: AAN63521.1
AB046774 mRNA Translation: BAB13380.1
AB046838 mRNA Translation: BAB13444.1 Sequence problems.
AK023871 mRNA Translation: BAB14708.1 Different initiation.
AK025676 mRNA Translation: BAB15212.1 Different initiation.
AK025914 mRNA Translation: BAB15280.1 Sequence problems.
AK026038 mRNA Translation: BAB15330.1 Different initiation.
AK074030 mRNA Translation: BAB84856.1
CCDSiCCDS11772.1 [Q63HN8-5]
CCDS58606.1 [Q63HN8-3]
RefSeqiNP_001243000.2, NM_001256071.2
NP_066005.2, NM_020954.3 [Q63HN8-5]

3D structure databases

SMRiQ63HN8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121705, 48 interactors
IntActiQ63HN8, 42 interactors
MINTiQ63HN8
STRINGi9606.ENSP00000464087

PTM databases

iPTMnetiQ63HN8
PhosphoSitePlusiQ63HN8
SwissPalmiQ63HN8

Polymorphism and mutation databases

BioMutaiRNF213
DMDMi380865458

Proteomic databases

EPDiQ63HN8
jPOSTiQ63HN8
MassIVEiQ63HN8
MaxQBiQ63HN8
PaxDbiQ63HN8
PeptideAtlasiQ63HN8
PRIDEiQ63HN8
ProteomicsDBi65884 [Q63HN8-3]
65885 [Q63HN8-4]
65886 [Q63HN8-5]
65887 [Q63HN8-6]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
57674
Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi57674
KEGGihsa:57674
UCSCiuc002jyf.5 human [Q63HN8-3]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57674
DisGeNETi57674

GeneCards: human genes, protein and diseases

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GeneCardsi
RNF213
HGNCiHGNC:14539 RNF213
HPAiHPA003347
HPA026790
MalaCardsiRNF213
MIMi607151 phenotype
613768 gene
neXtProtiNX_Q63HN8
OpenTargetsiENSG00000173821
Orphaneti2573 Moyamoya disease
PharmGKBiPA134898812
PA162401681

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IE7S Eukaryota
ENOG410Z1EV LUCA
GeneTreeiENSGT00630000089884
HOGENOMiHOG000154163
InParanoidiQ63HN8
KOiK22754
OrthoDBi840at2759
TreeFamiTF343131

Enzyme and pathway databases

UniPathwayiUPA00143
ReactomeiR-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
RNF213 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RNF213

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
57674

Pharos

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Pharosi
Q63HN8

Protein Ontology

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PROi
PR:Q63HN8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000173821 Expressed in 193 organ(s), highest expression level in adult mammalian kidney
ExpressionAtlasiQ63HN8 baseline and differential
GenevisibleiQ63HN8 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR027417 P-loop_NTPase
IPR031248 RNF213
IPR018957 Znf_C3HC4_RING-type
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR22605 PTHR22605, 2 hits
PfamiView protein in Pfam
PF00097 zf-C3HC4, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SM00184 RING, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS50089 ZF_RING_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRN213_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q63HN8
Secondary accession number(s): C9JCP4
, D6RI12, F8WKS1, Q658P6, Q69YK7, Q6MZR1, Q8IWF4, Q8IZX1, Q8IZX2, Q8N406, Q8TEU0, Q9H6C9, Q9H6H9, Q9H6P3, Q9H8A9, Q9HCF4, Q9HCL8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: March 21, 2012
Last modified: September 18, 2019
This is version 150 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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