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Entry version 173 (08 May 2019)
Sequence version 3 (04 Jan 2005)
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Protein

E3 ubiquitin-protein ligase RNF216

Gene

RNF216

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

Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Isoform 3 inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis.2 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

  • S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine. EC:2.3.2.27

<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.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi515Zinc 1PROSITE-ProRule annotation1
Metal bindingi518Zinc 1PROSITE-ProRule annotation1
Metal bindingi537Zinc 1PROSITE-ProRule annotation1
Metal bindingi540Zinc 1PROSITE-ProRule annotation1
Metal bindingi605Zinc 2PROSITE-ProRule annotation1
Metal bindingi608Zinc 2PROSITE-ProRule annotation1
Metal bindingi623Zinc 2PROSITE-ProRule annotation1
Metal bindingi628Zinc 2PROSITE-ProRule annotation1
Metal bindingi633Zinc 3PROSITE-ProRule annotation1
Metal bindingi636Zinc 3PROSITE-ProRule annotation1
Metal bindingi643Zinc 3; via tele nitrogenPROSITE-ProRule annotation1
Metal bindingi648Zinc 3PROSITE-ProRule annotation1
Metal bindingi675Zinc 4PROSITE-ProRule annotation1
Metal bindingi678Zinc 4PROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei688PROSITE-ProRule annotation1
Metal bindingi693Zinc 4PROSITE-ProRule annotation1
Metal bindingi695Zinc 4PROSITE-ProRule annotation1
Metal bindingi700Zinc 5PROSITE-ProRule annotation1
Metal bindingi703Zinc 5PROSITE-ProRule annotation1
Metal bindingi716Zinc 5; via tele nitrogenPROSITE-ProRule annotation1
Metal bindingi724Zinc 5PROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 fingeri515 – 564RING-type 1PROSITE-ProRule annotationAdd BLAST50
Zinc fingeri583 – 648IBR-typePROSITE-ProRule annotationAdd BLAST66
Zinc fingeri675 – 703RING-type 2; atypicalPROSITE-ProRule annotationAdd BLAST29

<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 functionTransferase
Biological processApoptosis, Host-virus interaction, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling

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 RNF216 (EC:2.3.2.27)
Alternative name(s):
RING finger protein 216
RING-type E3 ubiquitin transferase RNF216Curated
Triad domain-containing protein 3
Ubiquitin-conjugating enzyme 7-interacting protein 1
Zinc finger protein inhibiting NF-kappa-B
<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:RNF216
Synonyms:TRIAD3, UBCE7IP1, ZIN
<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: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21698 RNF216

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609948 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NWF9

<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

Gordon Holmes syndrome (GDHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility.
See also OMIM:212840
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_070048660R → C in GDHS. 1 PublicationCorresponds to variant dbSNP:rs1335215379Ensembl.1
Natural variantiVAR_070049694R → C in GDHS. 1 PublicationCorresponds to variant dbSNP:rs387907368Ensembl.1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism

Organism-specific databases

DisGeNET

More...
DisGeNETi
54476

MalaCards human disease database

More...
MalaCardsi
RNF216
MIMi212840 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000011275

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

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Orphaneti
1173 Cerebellar ataxia-hypogonadism syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162401829

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RNF216

Domain mapping of disease mutations (DMDM)

More...
DMDMi
57015417

<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_00000562931 – 866E3 ubiquitin-protein ligase RNF216Add BLAST866

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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-linki100Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki351Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki354Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei419PhosphoserineCombined sources1
Cross-linki425Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki430Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki448Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki459Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki485Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki619Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki658Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki666Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki765Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki773Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 2 (identifier: Q9NWF9-1)
Cross-linki80Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross-linki89Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)

<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

Auto-ubiquitinated.

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NWF9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NWF9

PeptideAtlas

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PeptideAtlasi
Q9NWF9

PRoteomics IDEntifications database

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PRIDEi
Q9NWF9

ProteomicsDB human proteome resource

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ProteomicsDBi
82933
82934 [Q9NWF9-1]
82935 [Q9NWF9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NWF9

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

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PhosphoSitePlusi
Q9NWF9

<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

Ubiquitous, with the highest levels of expression in testis and peripheral blood leukocytes.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000011275 Expressed in 220 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NWF9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NWF9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA018955
HPA021123

<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

Interacts with UBE2L3 and to some extent with UBE2L6. Interacts with TRAF3, TLR3, TLR4, TLR5 and TLR9. Isoform 3/ZIN binds RIPK1.3 Publications
(Microbial infection) Isoform 3/ZIN binds RIPK1 and HIV Vif.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

WithEntry#Exp.IntActNotes
vifP125044EBI-723337,EBI-779991From Human immunodeficiency virus type 1 group M subtype B (isolate NY5).

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119981, 27 interactors

Protein interaction database and analysis system

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IntActi
Q9NWF9, 17 interactors

Molecular INTeraction database

More...
MINTi
Q9NWF9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000374552

<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
Q9NWF9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni511 – 728TRIAD supradomainPROSITE-ProRule annotationAdd BLAST218

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 coili475 – 491Sequence analysisAdd BLAST17
Coiled coili737 – 763Sequence analysisAdd BLAST27

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi769 – 862Pro-richAdd BLAST94

<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 mediates binding to an E2 ubiquitin-conjugating enzyme.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri515 – 564RING-type 1PROSITE-ProRule annotationAdd BLAST50
Zinc fingeri583 – 648IBR-typePROSITE-ProRule annotationAdd BLAST66
Zinc fingeri675 – 703RING-type 2; atypicalPROSITE-ProRule annotationAdd BLAST29

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00510000048032

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000154166

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NWF9

KEGG Orthology (KO)

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KOi
K11976

Identification of Orthologs from Complete Genome Data

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OMAi
FPLQGSQ

Database of Orthologous Groups

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OrthoDBi
1486032at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NWF9

TreeFam database of animal gene trees

More...
TreeFami
TF330852

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002867 IBR_dom
IPR013083 Znf_RING/FYVE/PHD

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00647 IBR, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51873 TRIAD, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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 3 <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

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NWF9-2) [UniParc]FASTAAdd to basket
Also known as: TRIAD3A

This isoform has been chosen as the 'canonical' 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
MEEGNNNEEV IHLNNFHCHR GQEWINLRDG PITISDSSDE ERIPMLVTPA
60 70 80 90 100
PQQHEEEDLD DDVILTEDDS EDDYGEFLDL GPPGISEFTK PSGQTEREPK
110 120 130 140 150
PGPSHNQAAN DIVNPRSEQK VIILEEGSLL YTESDPLETQ NQSSEDSETE
160 170 180 190 200
LLSNLGESAA LADDQAIEED CWLDHPYFQS LNQQPREITN QVVPQERQPE
210 220 230 240 250
AELGRLLFQH EFPGPAFPRP EPQQGGISGP SSPQPAHPLG EFEDQQLASD
260 270 280 290 300
DEEPGPAFPM QESQEPNLEN IWGQEAAEVD QELVELLVKE TEARFPDVAN
310 320 330 340 350
GFIEEIIHFK NYYDLNVLCN FLLENPDYPK REDRIIINPS SSLLASQDET
360 370 380 390 400
KLPKIDFFDY SKLTPLDQRC FIQAADLLMA DFKVLSSQDI KWALHELKGH
410 420 430 440 450
YAITRKALSD AIKKWQELSP ETSGKRKKRK QMNQYSYIDF KFEQGDIKIE
460 470 480 490 500
KRMFFLENKR RHCRSYDRRA LLPAVQQEQE FYEQKIKEMA EHEDFLLALQ
510 520 530 540 550
MNEEQYQKDG QLIECRCCYG EFPFEELTQC ADAHLFCKEC LIRYAQEAVF
560 570 580 590 600
GSGKLELSCM EGSCTCSFPT SELEKVLPQT ILYKYYERKA EEEVAAAYAD
610 620 630 640 650
ELVRCPSCSF PALLDSDVKR FSCPNPHCRK ETCRKCQGLW KEHNGLTCEE
660 670 680 690 700
LAEKDDIKYR TSIEEKMTAA RIRKCHKCGT GLIKSEGCNR MSCRCGAQMC
710 720 730 740 750
YLCRVSINGY DHFCQHPRSP GAPCQECSRC SLWTDPTEDD EKLIEEIQKE
760 770 780 790 800
AEEEQKRKNG ENTFKRIGPP LEKPVEKVQR VEALPRPVPQ NLPQPQMPPY
810 820 830 840 850
AFAHPPFPLP PVRPVFNNFP LNMGPIPAPY VPPLPNVRVN YDFGPIHMPL
860
EHNLPMHFGP QPRHRF
Length:866
Mass (Da):99,406
Last modified:January 4, 2005 - 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:i6A46B66A6569DE74
GO
Isoform 2 (identifier: Q9NWF9-1) [UniParc]FASTAAdd to basket
Also known as: TRIAD3B

The sequence of this isoform differs from the canonical sequence as follows:
     67-67: E → ETNKPQRSRPNLIKPAAQWQDLKRLGEERPKKSRAAFESDKSSYFSVCNNPLFDSGAQ

Show »
Length:923
Mass (Da):105,882
Checksum:iFFAA15927AE14608
GO
Isoform 3 (identifier: Q9NWF9-3) [UniParc]FASTAAdd to basket
Also known as: ZIN, TRIAD3

The sequence of this isoform differs from the canonical sequence as follows:
     1-378: Missing.

Note: 4 different alternatively spliced mRNAs code for this protein isoform.
Show »
Length:488
Mass (Da):56,697
Checksum:i6EB1D218DE2E4E6A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W6D1F8W6D1_HUMAN
E3 ubiquitin-protein ligase RNF216
RNF216
326Annotation score:

Annotation score:1 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>
C9JIV3C9JIV3_HUMAN
E3 ubiquitin-protein ligase RNF216
RNF216
19Annotation score:

Annotation score:1 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>
F8WDI8F8WDI8_HUMAN
E3 ubiquitin-protein ligase RNF216
RNF216
49Annotation score:

Annotation score:1 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>

<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 BAA91422 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 conflicti408L → F in AAL38043 (PubMed:11854271).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070048660R → C in GDHS. 1 PublicationCorresponds to variant dbSNP:rs1335215379Ensembl.1
Natural variantiVAR_070049694R → C in GDHS. 1 PublicationCorresponds to variant dbSNP:rs387907368Ensembl.1

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_0124431 – 378Missing in isoform 3. 2 PublicationsAdd BLAST378
Alternative sequenceiVSP_01244467E → ETNKPQRSRPNLIKPAAQWQ DLKRLGEERPKKSRAAFESD KSSYFSVCNNPLFDSGAQ in isoform 2. 1 Publication1

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
AY062174 mRNA Translation: AAL38043.1
AF513717 mRNA Translation: AAP47174.1
AF513718 mRNA Translation: AAP47175.1
AY177396 mRNA Translation: AAO60361.1
AY177397 mRNA Translation: AAO60362.1
AY177398 mRNA Translation: AAO60363.1
BX537406 mRNA Translation: CAD97648.1
AC008167 Genomic DNA Translation: AAS07532.1
BC000787 mRNA Translation: AAH00787.2
BC063825 mRNA Translation: AAH63825.1
AK000916 mRNA Translation: BAA91422.1 Different initiation.
AF228527 mRNA Translation: AAF36723.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34594.1 [Q9NWF9-1]
CCDS34595.1 [Q9NWF9-2]

NCBI Reference Sequences

More...
RefSeqi
NP_996994.1, NM_207111.3 [Q9NWF9-1]
NP_996999.1, NM_207116.2 [Q9NWF9-2]
XP_005249842.1, XM_005249785.2 [Q9NWF9-1]
XP_011513738.1, XM_011515436.1 [Q9NWF9-3]
XP_016867852.1, XM_017012363.1 [Q9NWF9-2]
XP_016867854.1, XM_017012365.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000389902; ENSP00000374552; ENSG00000011275 [Q9NWF9-1]
ENST00000425013; ENSP00000404602; ENSG00000011275 [Q9NWF9-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54476

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54476

UCSC genome browser

More...
UCSCi
uc003sox.3 human [Q9NWF9-2]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY062174 mRNA Translation: AAL38043.1
AF513717 mRNA Translation: AAP47174.1
AF513718 mRNA Translation: AAP47175.1
AY177396 mRNA Translation: AAO60361.1
AY177397 mRNA Translation: AAO60362.1
AY177398 mRNA Translation: AAO60363.1
BX537406 mRNA Translation: CAD97648.1
AC008167 Genomic DNA Translation: AAS07532.1
BC000787 mRNA Translation: AAH00787.2
BC063825 mRNA Translation: AAH63825.1
AK000916 mRNA Translation: BAA91422.1 Different initiation.
AF228527 mRNA Translation: AAF36723.1
CCDSiCCDS34594.1 [Q9NWF9-1]
CCDS34595.1 [Q9NWF9-2]
RefSeqiNP_996994.1, NM_207111.3 [Q9NWF9-1]
NP_996999.1, NM_207116.2 [Q9NWF9-2]
XP_005249842.1, XM_005249785.2 [Q9NWF9-1]
XP_011513738.1, XM_011515436.1 [Q9NWF9-3]
XP_016867852.1, XM_017012363.1 [Q9NWF9-2]
XP_016867854.1, XM_017012365.1

3D structure databases

SMRiQ9NWF9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119981, 27 interactors
IntActiQ9NWF9, 17 interactors
MINTiQ9NWF9
STRINGi9606.ENSP00000374552

PTM databases

iPTMnetiQ9NWF9
PhosphoSitePlusiQ9NWF9

Polymorphism and mutation databases

BioMutaiRNF216
DMDMi57015417

Proteomic databases

EPDiQ9NWF9
jPOSTiQ9NWF9
PeptideAtlasiQ9NWF9
PRIDEiQ9NWF9
ProteomicsDBi82933
82934 [Q9NWF9-1]
82935 [Q9NWF9-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
54476
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389902; ENSP00000374552; ENSG00000011275 [Q9NWF9-1]
ENST00000425013; ENSP00000404602; ENSG00000011275 [Q9NWF9-2]
GeneIDi54476
KEGGihsa:54476
UCSCiuc003sox.3 human [Q9NWF9-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54476
DisGeNETi54476

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RNF216
HGNCiHGNC:21698 RNF216
HPAiHPA018955
HPA021123
MalaCardsiRNF216
MIMi212840 phenotype
609948 gene
neXtProtiNX_Q9NWF9
OpenTargetsiENSG00000011275
Orphaneti1173 Cerebellar ataxia-hypogonadism syndrome
PharmGKBiPA162401829

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00510000048032
HOGENOMiHOG000154166
InParanoidiQ9NWF9
KOiK11976
OMAiFPLQGSQ
OrthoDBi1486032at2759
PhylomeDBiQ9NWF9
TreeFamiTF330852

Enzyme and pathway databases

UniPathwayi
UPA00143

ReactomeiR-HSA-936440 Negative regulators of DDX58/IFIH1 signaling

Miscellaneous databases

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

More...
ChiTaRSi
RNF216 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RNF216

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

More...
GenomeRNAii
54476

Protein Ontology

More...
PROi
PR:Q9NWF9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000011275 Expressed in 220 organ(s), highest expression level in testis
ExpressionAtlasiQ9NWF9 baseline and differential
GenevisibleiQ9NWF9 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR002867 IBR_dom
IPR013083 Znf_RING/FYVE/PHD
SMARTiView protein in SMART
SM00647 IBR, 2 hits
PROSITEiView protein in PROSITE
PS51873 TRIAD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<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 nameiRN216_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: Q9NWF9
Secondary accession number(s): Q6Y691
, Q75ML7, Q7Z2H7, Q7Z7C1, Q8NHW7, Q9NYT1
<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: September 26, 2001
Last sequence update: January 4, 2005
Last modified: May 8, 2019
This is version 173 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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
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