Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 156 (12 Aug 2020)
Sequence version 1 (01 Jun 1998)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

E3 ubiquitin-protein ligase RNF13

Gene

RNF13

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 that may play a role in controlling cell proliferation. Involved in apoptosis regulation. Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA (PubMed:23378536, PubMed:30595371).3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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%5Fsection">'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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 fingeri240 – 282RING-type; atypicalPROSITE-ProRule annotationAdd BLAST43

<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 processUbl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
O43567

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%5Fand%5Ftaxonomy%5Fsection">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 RNF13 (EC:2.3.2.27)
Alternative name(s):
RING finger protein 13
RING-type E3 ubiquitin transferase RNF13Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:RNF13
Synonyms:RZF
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000082996.19

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10057, RNF13

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609247, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43567

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini35 – 182LumenalSequence analysisAdd BLAST148
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei183 – 203HelicalSequence analysisAdd BLAST21
Topological domaini204 – 381CytoplasmicSequence analysisAdd BLAST178

Keywords - Cellular componenti

Endoplasmic reticulum, Endosome, Golgi apparatus, Lysosome, Membrane, Nucleus

<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

Epileptic encephalopathy, early infantile, 73 (EIEE73)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE73 is an autosomal dominant form with onset at birth.
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_082117311L → S in EIEE73; gain-of-function variant; increased ER stress-induced apoptosis. 1 Publication1
Natural variantiVAR_082118312L → P in EIEE73. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi1 – 183Missing : No effect on ER stress-induced JNK activation and apoptosis. 1 PublicationAdd BLAST183
Mutagenesisi43N → A: No effect on glycosylation. 1 Publication1
Mutagenesisi52 – 162Missing : No effect on ER stress-induced JNK activation and apoptosis. No effect on interaction with ERN1. 1 PublicationAdd BLAST111
Mutagenesisi88N → A: Loss of glycosylation. 1 Publication1
Mutagenesisi165 – 381Missing : Abolishes ER stress-induced JNK activation and apoptosis. 1 PublicationAdd BLAST217
Mutagenesisi184 – 207Missing : Abolishes ER stress-induced JNK activation and apoptosis. Disrupts localization to endoplasmic reticulum. 1 PublicationAdd BLAST24
Mutagenesisi243C → W: Abolishes ER stress-induced JNK activation and apoptosis. Abolishes interaction with ERN1. Does not affect localization to endoplasmic reticulum. 1 Publication1
Mutagenesisi258C → A: Complete loss of E3 ligase activity; when associated with A-260. 1 Publication1
Mutagenesisi260H → A: Complete loss of E3 ligase activity; when associated with A-258. 1 Publication1
Mutagenesisi270W → A: Drastically reduces E3 ligase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
11342

MalaCards human disease database

More...
MalaCardsi
RNF13
MIMi618379, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000082996

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

More...
Orphaneti
544503, RNF13-related severe early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34422

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O43567, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RNF13

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 34Sequence analysisAdd BLAST34
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000005605435 – 381E3 ubiquitin-protein ligase RNF13Add BLAST347

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi88N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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.1 Publication

Keywords - PTMi

Glycoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O43567

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O43567

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O43567

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O43567

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

More...
PaxDbi
O43567

PeptideAtlas

More...
PeptideAtlasi
O43567

PRoteomics IDEntifications database

More...
PRIDEi
O43567

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
3575
49058 [O43567-1]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
O43567, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O43567

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

More...
PhosphoSitePlusi
O43567

<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). In normal pancreas, expressed in islets, but not in ducts, nor in acini (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000082996, Expressed in corpus callosum and 250 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O43567, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O43567, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000082996, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ERN1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
116470, 38 interactors

Protein interaction database and analysis system

More...
IntActi
O43567, 30 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000341361

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O43567, protein

<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

Secondary structure

1381
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...
SMRi
O43567

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini65 – 160PAAdd BLAST96

<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 E3 ligase activity and for promoting ER stress-induced JNK activation and apoptosis.1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri240 – 282RING-type; atypicalPROSITE-ProRule annotationAdd BLAST43

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4628, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154942

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_035275_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O43567

KEGG Orthology (KO)

More...
KOi
K15692

Identification of Orthologs from Complete Genome Data

More...
OMAi
IRRLECN

Database of Orthologous Groups

More...
OrthoDBi
1487241at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O43567

TreeFam database of animal gene trees

More...
TreeFami
TF317486

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
IPR003137, PA_domain
IPR001841, Znf_RING
IPR013083, Znf_RING/FYVE/PHD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02225, PA, 1 hit
PF13639, zf-RING_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00184, RING, 1 hit

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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43567-1) [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
MLLSIGMLML SATQVYTILT VQLFAFLNLL PVEADILAYN FENASQTFDD
60 70 80 90 100
LPARFGYRLP AEGLKGFLIN SKPENACEPI VPPPVKDNSS GTFIVLIRRL
110 120 130 140 150
DCNFDIKVLN AQRAGYKAAI VHNVDSDDLI SMGSNDIEVL KKIDIPSVFI
160 170 180 190 200
GESSANSLKD EFTYEKGGHL ILVPEFSLPL EYYLIPFLII VGICLILIVI
210 220 230 240 250
FMITKFVQDR HRARRNRLRK DQLKKLPVHK FKKGDEYDVC AICLDEYEDG
260 270 280 290 300
DKLRILPCSH AYHCKCVDPW LTKTKKTCPV CKQKVVPSQG DSDSDTDSSQ
310 320 330 340 350
EENEVTEHTP LLRPLASVSA QSFGALSESR SHQNMTESSD YEEDDNEDTD
360 370 380
SSDAENEINE HDVVVQLQPN GERDYNIANT V
Length:381
Mass (Da):42,814
Last modified:June 1, 1998 - v1
<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:i4600727D0F197653
GO
Isoform 2 (identifier: O43567-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: MLLSIGMLMLSATQVYTI → MLILMTSLAWDPTTVSTV
     19-137: Missing.

Show »
Length:262
Mass (Da):29,713
Checksum:iDAAF0885999293D3
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 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J383C9J383_HUMAN
E3 ubiquitin-protein ligase RNF13
RNF13
192Annotation score:

Annotation score:2 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>
C9J8T4C9J8T4_HUMAN
E3 ubiquitin-protein ligase RNF13
RNF13
163Annotation 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>
C9JYN7C9JYN7_HUMAN
E3 ubiquitin-protein ligase RNF13
RNF13
165Annotation 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>
C9JRV0C9JRV0_HUMAN
E3 ubiquitin-protein ligase RNF13
RNF13
115Annotation 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>
C9JCY0C9JCY0_HUMAN
E3 ubiquitin-protein ligase RNF13
RNF13
233Annotation 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>
C9IY58C9IY58_HUMAN
E3 ubiquitin-protein ligase RNF13
RNF13
232Annotation 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>
H7C5Q6H7C5Q6_HUMAN
E3 ubiquitin-protein ligase RNF13
RNF13
183Annotation 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>
C9J7B4C9J7B4_HUMAN
E3 ubiquitin-protein ligase RNF13
RNF13
150Annotation 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>
F8WDJ5F8WDJ5_HUMAN
E3 ubiquitin-protein ligase RNF13
RNF13
140Annotation 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>
C9JYY4C9JYY4_HUMAN
E3 ubiquitin-protein ligase RNF13
RNF13
80Annotation 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>
There are more potential isoformsShow all

<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 AAH17878 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_082117311L → S in EIEE73; gain-of-function variant; increased ER stress-induced apoptosis. 1 Publication1
Natural variantiVAR_082118312L → P in EIEE73. 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_0554301 – 18MLLSI…QVYTI → MLILMTSLAWDPTTVSTV in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_05543119 – 137Missing in isoform 2. 1 PublicationAdd BLAST119

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
AF037204 mRNA Translation: AAC03769.1
AF070558 mRNA Translation: AAC28641.1
AK313304 mRNA Translation: BAG36109.1
AK090638 mRNA Translation: BAG52202.1
AK090771 mRNA Translation: BAG52224.1
CR456804 mRNA Translation: CAG33085.1
AC069216 Genomic DNA No translation available.
AC117395 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78858.1
CH471052 Genomic DNA Translation: EAW78859.1
CH471052 Genomic DNA Translation: EAW78860.1
CH471052 Genomic DNA Translation: EAW78861.1
CH471052 Genomic DNA Translation: EAW78862.1
CH471052 Genomic DNA Translation: EAW78863.1
BC009803 mRNA Translation: AAH09803.1
BC009781 mRNA Translation: AAH09781.1
BC017878 mRNA Translation: AAH17878.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3146.1 [O43567-1]
CCDS87154.1 [O43567-2]

NCBI Reference Sequences

More...
RefSeqi
NP_009213.1, NM_007282.4 [O43567-1]
NP_899237.1, NM_183381.2 [O43567-1]
XP_005247149.1, XM_005247092.3
XP_011510675.1, XM_011512373.2 [O43567-1]
XP_011510676.1, XM_011512374.2 [O43567-1]
XP_011510678.1, XM_011512376.2 [O43567-2]
XP_016861143.1, XM_017005654.1
XP_016861144.1, XM_017005655.1
XP_016861145.1, XM_017005656.1
XP_016861146.1, XM_017005657.1
XP_016861147.1, XM_017005658.1
XP_016861148.1, XM_017005659.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000344229; ENSP00000341361; ENSG00000082996 [O43567-1]
ENST00000361785; ENSP00000355268; ENSG00000082996 [O43567-2]
ENST00000392894; ENSP00000376628; ENSG00000082996 [O43567-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
11342

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:11342

UCSC genome browser

More...
UCSCi
uc003exn.5, human [O43567-1]

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
AF037204 mRNA Translation: AAC03769.1
AF070558 mRNA Translation: AAC28641.1
AK313304 mRNA Translation: BAG36109.1
AK090638 mRNA Translation: BAG52202.1
AK090771 mRNA Translation: BAG52224.1
CR456804 mRNA Translation: CAG33085.1
AC069216 Genomic DNA No translation available.
AC117395 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78858.1
CH471052 Genomic DNA Translation: EAW78859.1
CH471052 Genomic DNA Translation: EAW78860.1
CH471052 Genomic DNA Translation: EAW78861.1
CH471052 Genomic DNA Translation: EAW78862.1
CH471052 Genomic DNA Translation: EAW78863.1
BC009803 mRNA Translation: AAH09803.1
BC009781 mRNA Translation: AAH09781.1
BC017878 mRNA Translation: AAH17878.1 Sequence problems.
CCDSiCCDS3146.1 [O43567-1]
CCDS87154.1 [O43567-2]
RefSeqiNP_009213.1, NM_007282.4 [O43567-1]
NP_899237.1, NM_183381.2 [O43567-1]
XP_005247149.1, XM_005247092.3
XP_011510675.1, XM_011512373.2 [O43567-1]
XP_011510676.1, XM_011512374.2 [O43567-1]
XP_011510678.1, XM_011512376.2 [O43567-2]
XP_016861143.1, XM_017005654.1
XP_016861144.1, XM_017005655.1
XP_016861145.1, XM_017005656.1
XP_016861146.1, XM_017005657.1
XP_016861147.1, XM_017005658.1
XP_016861148.1, XM_017005659.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5ZBUX-ray3.20A/D216-290[»]
5ZC4X-ray1.91A/D216-290[»]
SMRiO43567
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116470, 38 interactors
IntActiO43567, 30 interactors
STRINGi9606.ENSP00000341361

PTM databases

GlyGeniO43567, 3 sites
iPTMnetiO43567
PhosphoSitePlusiO43567

Polymorphism and mutation databases

BioMutaiRNF13

Proteomic databases

EPDiO43567
jPOSTiO43567
MassIVEiO43567
MaxQBiO43567
PaxDbiO43567
PeptideAtlasiO43567
PRIDEiO43567
ProteomicsDBi3575
49058 [O43567-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
2251, 126 antibodies

The DNASU plasmid repository

More...
DNASUi
11342

Genome annotation databases

EnsembliENST00000344229; ENSP00000341361; ENSG00000082996 [O43567-1]
ENST00000361785; ENSP00000355268; ENSG00000082996 [O43567-2]
ENST00000392894; ENSP00000376628; ENSG00000082996 [O43567-1]
GeneIDi11342
KEGGihsa:11342
UCSCiuc003exn.5, human [O43567-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
11342
DisGeNETi11342
EuPathDBiHostDB:ENSG00000082996.19

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RNF13
HGNCiHGNC:10057, RNF13
HPAiENSG00000082996, Low tissue specificity
MalaCardsiRNF13
MIMi609247, gene
618379, phenotype
neXtProtiNX_O43567
OpenTargetsiENSG00000082996
Orphaneti544503, RNF13-related severe early-onset epileptic encephalopathy
PharmGKBiPA34422

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4628, Eukaryota
GeneTreeiENSGT00940000154942
HOGENOMiCLU_035275_1_1_1
InParanoidiO43567
KOiK15692
OMAiIRRLECN
OrthoDBi1487241at2759
PhylomeDBiO43567
TreeFamiTF317486

Enzyme and pathway databases

UniPathwayiUPA00143
PathwayCommonsiO43567

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
11342, 8 hits in 856 CRISPR screens

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

More...
ChiTaRSi
RNF13, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RNF13

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

More...
GenomeRNAii
11342
PharosiO43567, Tbio

Protein Ontology

More...
PROi
PR:O43567
RNActiO43567, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000082996, Expressed in corpus callosum and 250 other tissues
ExpressionAtlasiO43567, baseline and differential
GenevisibleiO43567, HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR003137, PA_domain
IPR001841, Znf_RING
IPR013083, Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF02225, PA, 1 hit
PF13639, zf-RING_2, 1 hit
SMARTiView protein in SMART
SM00184, RING, 1 hit
PROSITEiView protein in PROSITE
PS50089, ZF_RING_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiRNF13_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: O43567
Secondary accession number(s): A6NC87
, B3KR12, Q05D66, Q6IBJ9
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 6, 2002
Last sequence update: June 1, 1998
Last modified: August 12, 2020
This is version 156 of the entry and version 1 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

3D-structure, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again