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Entry version 221 (02 Jun 2021)
Sequence version 1 (01 Nov 1996)
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Protein

TAR DNA-binding protein 43

Gene

TARDBP

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

RNA-binding protein that is involved in various steps of RNA biogenesis and processing (PubMed:23519609).

Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs (PubMed:23519609, PubMed:24240615, PubMed:24464995).

In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases (PubMed:21358640, PubMed:29438978).

Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts (PubMed:28794432).

Regulates also mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening (PubMed:30520513).

In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (PubMed:23398327, PubMed:19765185).

Participates also in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins (PubMed:30464263).

Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner (PubMed:27123980).

Negatively regulates the expression of CDK6 (PubMed:19760257).

Regulates the expression of HDAC6, ATG7 and VCP in a PPIA/CYPA-dependent manner (PubMed:25678563).

15 Publications

<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 functionDNA-binding, Repressor, RNA-binding
Biological processBiological rhythms, mRNA processing, mRNA splicing, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q13148

SIGNOR Signaling Network Open Resource

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SIGNORi
Q13148

<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:
TAR DNA-binding protein 43
Short name:
TDP-43
<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:TARDBP
Synonyms:TDP43
<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 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:11571, TARDBP

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605078, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q13148

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000120948.15

<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

Keywords - Cellular componenti

Cytoplasm, 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

Amyotrophic lateral sclerosis 10 (ALS10)15 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
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_045657169D → G in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356717EnsemblClinVar.1
Natural variantiVAR_058611267N → S in ALS10; also in a patient with frontotemporal dementia. 1 PublicationCorresponds to variant dbSNP:rs80356718EnsemblClinVar.1
Natural variantiVAR_045658287G → S in ALS10; loss of ability to negatively regulate the expression of CDK6. 3 PublicationsCorresponds to variant dbSNP:rs80356719EnsemblClinVar.1
Natural variantiVAR_045659290G → A in ALS10. 1 PublicationCorresponds to variant dbSNP:rs121908395EnsemblClinVar.1
Natural variantiVAR_045660294G → A in ALS10. 2 PublicationsCorresponds to variant dbSNP:rs80356721EnsemblClinVar.1
Natural variantiVAR_058612294G → V in ALS10; a patient with bulbar signs and dementia. 1 PublicationCorresponds to variant dbSNP:rs80356721EnsemblClinVar.1
Natural variantiVAR_058613295G → R in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356723EnsemblClinVar.1
Natural variantiVAR_058614295G → S in ALS10; also in patients with frontotemporal lobar degeneration with motor neuron disease. 1 PublicationCorresponds to variant dbSNP:rs80356723EnsemblClinVar.1
Natural variantiVAR_045661298G → S in ALS10. 1 PublicationCorresponds to variant dbSNP:rs4884357EnsemblClinVar.1
Natural variantiVAR_045662315A → T in ALS10; slight reduction in interaction with PPIA/CYPA. 3 PublicationsCorresponds to variant dbSNP:rs80356726EnsemblClinVar.1
Natural variantiVAR_083737321A → V in ALS10; loss of ability to negatively regulate the expression of CDK6. 1 Publication1
Natural variantiVAR_045663331Q → K in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos; does not affect the interaction with ATXN2. 2 PublicationsCorresponds to variant dbSNP:rs80356727EnsemblClinVar.1
Natural variantiVAR_058615332S → N in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356728Ensembl.1
Natural variantiVAR_058616335G → D in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356729Ensembl.1
Natural variantiVAR_045664337M → V in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos; loss of ability to negatively regulate the expression of CDK6. 3 PublicationsCorresponds to variant dbSNP:rs80356730EnsemblClinVar.1
Natural variantiVAR_062767343Q → R in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356731EnsemblClinVar.1
Natural variantiVAR_045665348G → C in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356733EnsemblClinVar.1
Natural variantiVAR_083738348G → V in ALS10; loss of interaction with PPIA/CYPA. 2 Publications1
Natural variantiVAR_067499357G → R in ALS10. 1 Publication1
Natural variantiVAR_045666361R → S in ALS10; significant reduction in interaction with PPIA/CYPA. 2 PublicationsCorresponds to variant dbSNP:rs80356735Ensembl.1
Natural variantiVAR_067500361R → T in ALS10. 1 Publication1
Natural variantiVAR_058617379S → C in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356739Ensembl.1
Natural variantiVAR_058618379S → P in ALS10. 2 PublicationsCorresponds to variant dbSNP:rs80356738Ensembl.1
Natural variantiVAR_045667382A → T in ALS10. 4 PublicationsCorresponds to variant dbSNP:rs367543041EnsemblClinVar.1
Natural variantiVAR_045668390N → D in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356741Ensembl.1
Natural variantiVAR_045669390N → S in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356742Ensembl.1
Natural variantiVAR_058619393S → L in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356743Ensembl.1

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>Mutagenesisi48S → E: Complete loss of self-oligomerization. 1 Publication1
Mutagenesisi103 – 183Missing : Loss of RNA-binding and reduced interaction with PPIA/CYPA. 1 PublicationAdd BLAST81
Mutagenesisi106 – 175Missing : Completely abolishes RNA binding. 1 PublicationAdd BLAST70
Mutagenesisi106 – 111LIVLGL → DIDLGD: Completely abolishes RNA binding. 1 Publication6
Mutagenesisi106 – 111Missing : Completely abolishes RNA binding. 1 Publication6
Mutagenesisi147 – 149FGF → LGL: Highly reduces binding to RNA and DNA. 1 Publication3
Mutagenesisi193 – 257Missing : Alters but does not abolish RNA binding. 1 PublicationAdd BLAST65

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease variant, Neurodegeneration

Organism-specific databases

DisGeNET

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DisGeNETi
23435

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
TARDBP

MalaCards human disease database

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MalaCardsi
TARDBP
MIMi612069, phenotype

Open Targets

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OpenTargetsi
ENSG00000120948

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

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Orphaneti
803, Amyotrophic lateral sclerosis
275872, Frontotemporal dementia with motor neuron disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36336

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q13148, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2362981

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TARDBP

Domain mapping of disease mutations (DMDM)

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DMDMi
20140568

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000819721 – 414TAR DNA-binding protein 43Add BLAST414

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 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-linki79Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki84Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki95Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki102Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki181Glycyl 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 residuei183PhosphoserineCombined sources1
Cross-linki263Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei292PhosphoserineCombined sources1
Modified residuei293Omega-N-methylarginineCombined sources1

<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

Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. Phosphorylated upon cellular stress.1 Publication
Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.2 Publications
Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q13148

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q13148

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q13148

MaxQB - The MaxQuant DataBase

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MaxQBi
Q13148

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

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PaxDbi
Q13148

PeptideAtlas

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PeptideAtlasi
Q13148

PRoteomics IDEntifications database

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PRIDEi
Q13148

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
4344
59189 [Q13148-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13148

MetOSite database of methionine sulfoxide sites

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MetOSitei
Q13148

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

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PhosphoSitePlusi
Q13148

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q13148

<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

Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000120948, Expressed in subventricular zone (outer) (primate) and 246 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13148, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13148, HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000120948, 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

Homodimer (PubMed:20043239, PubMed:24464995). Homooligomer (via its N-terminal domain) (PubMed:28663553, PubMed:29438978).

Interacts with BRDT (By similarity). Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun of six contiguous repeats.

Interacts with ATXN2; the interaction is RNA-dependent (PubMed:20740007).

Interacts with MATR3 (PubMed:24686783).

Interacts with UBQLN2 (PubMed:23541532).

Interacts with HNRNPA2B1 (PubMed:19429692).

Interacts with ZNF106 (By similarity).

Interacts with CNOT7/CAF1 (PubMed:30520513).

Interacts with CRY2 (PubMed:27123980).

Interacts with PPIA/CYPA; the interaction is dependent on RNA-binding activity of TARDBP and PPIase activity of PPIA/CYPA and acetylation of PPIA/CYPA at 'Lys-125' favors the interaction (PubMed:25678563).

By similarity12 Publications

<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

Q13148
With#Exp.IntAct
ABTB1 [Q969K4]3EBI-372899,EBI-7223971
ADAR [P55265]3EBI-372899,EBI-2462104
ANKRD13D - isoform 2 [Q6ZTN6-2]3EBI-372899,EBI-25840993
ANXA8 [P13928]6EBI-372899,EBI-2556915
AP2B1 - isoform 2 [P63010-2]6EBI-372899,EBI-11529439
APP [P05067]6EBI-372899,EBI-77613
APP - isoform APP305 [P05067-2]3EBI-372899,EBI-17264467
ARL16 [Q0P5N6]6EBI-372899,EBI-10186132
ASB13 [Q8WXK3]3EBI-372899,EBI-707573
ASB3 - isoform 3 [Q9Y575-3]3EBI-372899,EBI-14199987
ASB9 [Q96DX5]3EBI-372899,EBI-745641
ASB9 - isoform 3 [Q96DX5-3]3EBI-372899,EBI-25843552
ASIC4 - isoform 3 [Q96FT7-4]6EBI-372899,EBI-9089489
ATF3 [P18847]6EBI-372899,EBI-712767
ATG7 - isoform 2 [O95352-2]3EBI-372899,EBI-15980880
ATP6V1B1 [P15313]6EBI-372899,EBI-2891281
ATXN2 [Q99700]3EBI-372899,EBI-697691
BAG6 - isoform 2 [P46379-2]6EBI-372899,EBI-10988864
BAHD1 [Q8TBE0]6EBI-372899,EBI-742750
BEX5 [Q5H9J7]6EBI-372899,EBI-10243741
BIRC5 [O15392]6EBI-372899,EBI-518823
BTBD1 [Q9H0C5]3EBI-372899,EBI-935503
C6orf141 [Q5SZD1]6EBI-372899,EBI-10697767
C8orf48 [Q96LL4]6EBI-372899,EBI-751596
CBLB [Q13191]6EBI-372899,EBI-744027
CBLC [Q9ULV8]3EBI-372899,EBI-2341018
CBX2 - isoform 2 [Q14781-2]6EBI-372899,EBI-11974585
CCIN [Q13939]3EBI-372899,EBI-25879469
CDC16 [Q13042]3EBI-372899,EBI-994830
CDC16 - isoform 2 [Q13042-2]3EBI-372899,EBI-10974085
CDC23 [Q9UJX2]3EBI-372899,EBI-396137
CELF1 - isoform 3 [Q92879-3]3EBI-372899,EBI-21370617
CEP70 - isoform 3 [Q8NHQ1-3]6EBI-372899,EBI-11526150
CFAP100 - isoform 2 [Q494V2-2]6EBI-372899,EBI-11953200
CLPP [Q16740]3EBI-372899,EBI-1056029
CRLF3 [Q8IUI8]6EBI-372899,EBI-2872414
CSNK1D - isoform 2 [P48730-2]6EBI-372899,EBI-9087876
DCAF7 [P61962]3EBI-372899,EBI-359808
DCAF8 - isoform 2 [Q5TAQ9-2]6EBI-372899,EBI-25842815
DDI2 - isoform 2 [Q5TDH0-2]3EBI-372899,EBI-25858598
DDX17 [Q92841]6EBI-372899,EBI-746012
DDX3X [O00571]6EBI-372899,EBI-353779
DDX5 [P17844]3EBI-372899,EBI-351962
DEAF1 [O75398]3EBI-372899,EBI-718185
DNAJA3 - isoform 3 [Q96EY1-3]6EBI-372899,EBI-11526226
DPF1 - isoform 2 [Q92782-2]6EBI-372899,EBI-23669343
DPP9 - isoform 2 [Q86TI2-2]6EBI-372899,EBI-21529239
EED - isoform 2 [O75530-2]3EBI-372899,EBI-11132357
EIF3F [O00303]6EBI-372899,EBI-711990
ELAVL1 [Q15717]7EBI-372899,EBI-374260
ENKUR [Q8TC29]6EBI-372899,EBI-9246952
EPHB2 - isoform 3 [P29323-3]6EBI-372899,EBI-25838727
ESRP1 [Q6NXG1]6EBI-372899,EBI-10213520
EXOC5 [O00471]6EBI-372899,EBI-949824
FAM117B [Q6P1L5]6EBI-372899,EBI-3893327
FAM98C [Q17RN3]6EBI-372899,EBI-5461838
FAM9A [Q8IZU1]6EBI-372899,EBI-8468186
FBXL5 [Q9UKA1]3EBI-372899,EBI-2692340
FBXO4 [Q9UKT5]3EBI-372899,EBI-960409
FUS [P35637]8EBI-372899,EBI-400434
GABPB1 - isoform 2 [Q06547-2]6EBI-372899,EBI-618189
GMPPA [Q96IJ6]6EBI-372899,EBI-750953
GNB2 [P62879]7EBI-372899,EBI-356942
GPSM3 [Q9Y4H4]6EBI-372899,EBI-347538
GTPBP3 [Q969Y2]6EBI-372899,EBI-740290
HDAC6 [Q9UBN7]3EBI-372899,EBI-301697
HES4 [Q9HCC6]6EBI-372899,EBI-2680288
HNRNPC [P07910]3EBI-372899,EBI-357966
HNRNPC - isoform C1 [P07910-2]6EBI-372899,EBI-5280084
HNRNPDL [O14979]3EBI-372899,EBI-299727
HNRNPH1 [P31943]6EBI-372899,EBI-351590
HNRNPK [P61978]3EBI-372899,EBI-304185
HNRNPK - isoform 2 [P61978-2]6EBI-372899,EBI-7060731
HNRNPR - isoform 2 [O43390-2]3EBI-372899,EBI-12236340
HNRNPU - isoform 2 [Q00839-2]6EBI-372899,EBI-351143
HNRNPUL1 [Q9BUJ2]3EBI-372899,EBI-1018153
HNRNPUL1 - isoform 2 [Q9BUJ2-2]3EBI-372899,EBI-11018029
HNRPUL1 [Q9BTB7]3EBI-372899,EBI-10298318
ID2 [Q02363]6EBI-372899,EBI-713450
IFI35 - isoform 2 [P80217-2]6EBI-372899,EBI-12823003
IGF2BP2 [Q9Y6M1]3EBI-372899,EBI-1024419
IGF2BP3 [O00425]6EBI-372899,EBI-1058566
ILF3 - isoform 6 [Q12906-6]6EBI-372899,EBI-12904528
ILF3 [Q9NXX0]3EBI-372899,EBI-743980
IQSEC1 - isoform 2 [Q6DN90-2]6EBI-372899,EBI-21911304
IRAK2 [O43187]2EBI-372899,EBI-447733
JADE3 [Q92613]6EBI-372899,EBI-10278909
KBTBD4 - isoform 2 [Q9NVX7-2]6EBI-372899,EBI-25871195
KCTD15 - isoform 2 [Q96SI1-2]6EBI-372899,EBI-12382297
KCTD17 [Q8N5Z5]6EBI-372899,EBI-743960
KLF15 [Q9UIH9]6EBI-372899,EBI-2796400
KLHL17 [Q6TDP4]3EBI-372899,EBI-21328926
KLHL20 [Q9Y2M5]3EBI-372899,EBI-714379
KLHL22 [Q53GT1]3EBI-372899,EBI-1996072
KLHL26 [Q53HC5]3EBI-372899,EBI-724915
KLHL32 [Q96NJ5]3EBI-372899,EBI-6426390
KLHL36 - isoform 2 [Q8N4N3-2]6EBI-372899,EBI-10973851
KPNA4 [O00629]3EBI-372899,EBI-396343
KRTAP9-2 [Q9BYQ4]6EBI-372899,EBI-1044640
L3MBTL3 - isoform 2 [Q96JM7-2]6EBI-372899,EBI-11985629
LDHAL6B [Q9BYZ2]6EBI-372899,EBI-1108377
LGALS9C [Q6DKI2]6EBI-372899,EBI-9088829
LNX1 [Q8TBB1]3EBI-372899,EBI-739832
LNX2 [Q8N448]6EBI-372899,EBI-2340947
LONRF2 [Q1L5Z9]3EBI-372899,EBI-2510853
LSM8 [O95777]6EBI-372899,EBI-347779
MAGEC3 - isoform 2 [Q8TD91-2]6EBI-372899,EBI-10694180
MAPK11 [Q15759]6EBI-372899,EBI-298304
MATR3 [P43243]6EBI-372899,EBI-352602
MED19 - isoform 2 [A0JLT2-2]3EBI-372899,EBI-13288755
METTL27 [Q8N6F8]6EBI-372899,EBI-8487781
MGARP [Q8TDB4]6EBI-372899,EBI-4397720
MIER1 - isoform 6 [Q8N108-16]6EBI-372899,EBI-25830642
MKL1 [A4FUJ8]6EBI-372899,EBI-21250407
MKRN2 [Q9H000]6EBI-372899,EBI-2341005
MKRN3 [Q13064]3EBI-372899,EBI-2340269
MLC1 [Q15049]6EBI-372899,EBI-8475277
MNAT1 [P51948]3EBI-372899,EBI-716139
MOCS3 [O95396]3EBI-372899,EBI-373206
MPND [Q8N594]6EBI-372899,EBI-2512452
MTF2 - isoform 4 [Q9Y483-4]3EBI-372899,EBI-10698053
MYC [P01106]6EBI-372899,EBI-447544
NME4 [O00746]6EBI-372899,EBI-744871
NSFL1C [Q9UNZ2]4EBI-372899,EBI-721577
NUP43 [Q8NFH3]3EBI-372899,EBI-1059321
NVL - isoform 5 [O15381-5]6EBI-372899,EBI-18577082
OTUB1 [Q96FW1]8EBI-372899,EBI-1058491
OTUD7B - isoform 2 [Q6GQQ9-2]6EBI-372899,EBI-25830200
OTX1 [P32242]6EBI-372899,EBI-740446
PACS1 [Q6VY07]6EBI-372899,EBI-2555014
PARP11 - isoform 4 [Q9NR21-5]3EBI-372899,EBI-17159452
PATZ1 - isoform 4 [Q9HBE1-4]3EBI-372899,EBI-11022007
PBX4 [Q9BYU1]6EBI-372899,EBI-10302990
PCMTD2 [Q9NV79]3EBI-372899,EBI-6309018
PDZRN4 - isoform 2 [Q6ZMN7-2]3EBI-372899,EBI-25984441
PP9974 [P09565]6EBI-372899,EBI-10196507
PPP1R15A [O75807]10EBI-372899,EBI-714746
PPP1R21 - isoform 5 [Q6ZMI0-5]6EBI-372899,EBI-25835994
PRKN - isoform 5 [O60260-5]3EBI-372899,EBI-21251460
PRPF8 [Q6P2Q9]3EBI-372899,EBI-538479
PRPS1 [P60891]6EBI-372899,EBI-749195
PSMB4 [P28070]3EBI-372899,EBI-603350
PSMB8 - isoform 2 [P28062-2]6EBI-372899,EBI-372312
PSMD2 [Q13200]3EBI-372899,EBI-357648
PTBP1 - isoform 3 [P26599-3]3EBI-372899,EBI-16437588
RAD18 [Q9NS91]3EBI-372899,EBI-2339393
RBBP4 [Q09028]6EBI-372899,EBI-620823
RBCK1 [Q9BYM8]3EBI-372899,EBI-2340624
RBM10 [P98175]3EBI-372899,EBI-721525
RBM46 [Q8TBY0]3EBI-372899,EBI-12068216
RBMX [P38159]3EBI-372899,EBI-743526
RELA [Q04206]3EBI-372899,EBI-73886
RMND5A [Q9H871]3EBI-372899,EBI-2797992
RMND5B [Q96G75]3EBI-372899,EBI-745055
RNF10 [Q8N5U6]3EBI-372899,EBI-714023
RNF112 [Q9ULX5]6EBI-372899,EBI-25829984
RNF138 [Q8WVD3]3EBI-372899,EBI-749039
RNF14 [Q9UBS8]3EBI-372899,EBI-2130308
RNF166 [Q96A37]3EBI-372899,EBI-2130320
RNF183 [Q96D59]3EBI-372899,EBI-743938
RYBP [Q8N488]6EBI-372899,EBI-752324
SF3B3 [Q15393]6EBI-372899,EBI-346977
SIAH1 - isoform 2 [Q8IUQ4-2]3EBI-372899,EBI-11522811
SLC44A5 [Q8NCS7]6EBI-372899,EBI-21504521
SMARCD1 [Q96GM5]6EBI-372899,EBI-358489
SMURF1 - isoform Short [Q9HCE7-2]3EBI-372899,EBI-9845742
SOCS6 [O14544]3EBI-372899,EBI-3929549
SPAG8 - isoform 2 [Q99932-2]6EBI-372899,EBI-11959123
SPATA22 [Q8NHS9]6EBI-372899,EBI-7067260
SPSB1 [Q96BD6]3EBI-372899,EBI-2659201
STAMBP [O95630]3EBI-372899,EBI-396676
SYMPK - isoform 2 [Q92797-2]6EBI-372899,EBI-21560407
SYNCRIP - isoform 4 [O60506-4]6EBI-372899,EBI-11123832
itself31EBI-372899,EBI-372899
TASOR2 [Q5VWN6]6EBI-372899,EBI-745958
TBX22 [Q9Y458]6EBI-372899,EBI-6427217
TERF2 - isoform 2 [Q15554-4]6EBI-372899,EBI-25840535
THAP3 [Q8WTV1]6EBI-372899,EBI-17438286
TNFRSF14 - isoform 2 [Q92956-2]6EBI-372899,EBI-25985089
TOB1 [P50616]4EBI-372899,EBI-723281
TRIM23 [P36406]3EBI-372899,EBI-740098
TRIM45 - isoform 2 [Q9H8W5-2]3EBI-372899,EBI-11993364
TRIM65 [L8E9Q5]3EBI-372899,EBI-25843781
TRIM69 - isoform 2 [Q86WT6-2]3EBI-372899,EBI-11525489
TRIM74 - isoform 2 [Q86UV6-2]3EBI-372899,EBI-10259086
TRIM8 [Q9BZR9]3EBI-372899,EBI-2340370
TRIM9 [Q9C026]6EBI-372899,EBI-720828
UBA7 [P41226]3EBI-372899,EBI-751921
UBE2V1 [Q13404]3EBI-372899,EBI-1050671
UBOX5 [O94941]3EBI-372899,EBI-751901
UBQLNL [Q8IYU4]3EBI-372899,EBI-12295223
USP13 [Q92995]3EBI-372899,EBI-714351
USP2 - isoform 3 [O75604-3]6EBI-372899,EBI-10696113
USP48 [Q86UV5]3EBI-372899,EBI-2512161
VHL - isoform 2 [P40337-2]3EBI-372899,EBI-12157263
VPS37A [Q8NEZ2]3EBI-372899,EBI-2850578
VPS37A - isoform 2 [Q8NEZ2-2]3EBI-372899,EBI-10270911
VSX2 [P58304]6EBI-372899,EBI-6427899
WDR12 [Q9GZL7]3EBI-372899,EBI-2490660
WDR61 [Q9GZS3]6EBI-372899,EBI-358545
WDR83 [Q9BRX9]6EBI-372899,EBI-7705033
WWP2 [O00308]3EBI-372899,EBI-743923
XRN2 [Q9H0D6]7EBI-372899,EBI-372110
YBX1 [P67809]6EBI-372899,EBI-354065
ZBTB24 - isoform 2 [O43167-2]3EBI-372899,EBI-25842419
ZBTB25 [P24278]3EBI-372899,EBI-739899
ZNF366 [Q8N895]4EBI-372899,EBI-2813661
ZNF581 [Q9P0T4]6EBI-372899,EBI-745520
ZSCAN1 - isoform 2 [Q8NBB4-2]6EBI-372899,EBI-12021938
A0A384ME256EBI-372899,EBI-10211777
Q9H6696EBI-372899,EBI-10307430
Q9WMX2 from Hepatitis C virus genotype 1b (isolate Con1).2EBI-372899,EBI-710918

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
117003, 446 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q13148

Database of interacting proteins

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DIPi
DIP-31167N

Protein interaction database and analysis system

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IntActi
Q13148, 258 interactors

Molecular INTeraction database

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MINTi
Q13148

STRING: functional protein association networks

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STRINGi
9606.ENSP00000240185

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q13148, 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

1414
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

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BMRBi
Q13148

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

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SMRi
Q13148

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q13148

<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>Domaini104 – 200RRM 1PROSITE-ProRule annotationAdd BLAST97
Domaini191 – 262RRM 2PROSITE-ProRule annotationAdd BLAST72

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>Regioni216 – 414Interaction with UBQLN21 PublicationAdd BLAST199
Regioni261 – 303DisorderedSequence analysisAdd BLAST43
Regioni341 – 373DisorderedSequence analysisAdd BLAST33

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi82 – 98Nuclear localization signal1 PublicationAdd BLAST17
Motifi239 – 250Nuclear export signal1 PublicationAdd BLAST12

<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

Consists of an N-terminal domain (NTD) and two tandem RNA recognition motifs, RRM1 and RRM2, followed by a C-terminal glycine-rich region.
Contains a nuclear localization sequence and is mostly nuclear; however, its nuclear export sequence permits it to transport mRNAs to the cytoplasm and even to synapses as part of neuronal granules.1 Publication

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QPQ8, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000154343

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_012062_6_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13148

Identification of Orthologs from Complete Genome Data

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OMAi
FCEIKRK

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13148

TreeFam database of animal gene trees

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TreeFami
TF315657

Family and domain databases

Database of protein disorder

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DisProti
DP01108

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.70.330, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR012677, Nucleotide-bd_a/b_plait_sf
IPR035979, RBD_domain_sf
IPR000504, RRM_dom
IPR041105, TDP43_N

Pfam protein domain database

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Pfami
View protein in Pfam
PF00076, RRM_1, 2 hits
PF18694, TDP43_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00360, RRM, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF54928, SSF54928, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50102, RRM, 2 hits

<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.

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.<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 23 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13148-1) [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
MSEYIRVTED ENDEPIEIPS EDDGTVLLST VTAQFPGACG LRYRNPVSQC
60 70 80 90 100
MRGVRLVEGI LHAPDAGWGN LVYVVNYPKD NKRKMDETDA SSAVKVKRAV
110 120 130 140 150
QKTSDLIVLG LPWKTTEQDL KEYFSTFGEV LMVQVKKDLK TGHSKGFGFV
160 170 180 190 200
RFTEYETQVK VMSQRHMIDG RWCDCKLPNS KQSQDEPLRS RKVFVGRCTE
210 220 230 240 250
DMTEDELREF FSQYGDVMDV FIPKPFRAFA FVTFADDQIA QSLCGEDLII
260 270 280 290 300
KGISVHISNA EPKHNSNRQL ERSGRFGGNP GGFGNQGGFG NSRGGGAGLG
310 320 330 340 350
NNQGSNMGGG MNFGAFSINP AMMAAAQAAL QSSWGMMGML ASQQNQSGPS
360 370 380 390 400
GNNQNQGNMQ REPNQAFGSG NNSYSGSNSG AAIGWGSASN AGSGSGFNGG
410
FGSSMDSKSS GWGM
Length:414
Mass (Da):44,740
Last modified:November 1, 1996 - 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:i8E09A1206FB4EF4A
GO
Isoform 2 (identifier: Q13148-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: MSEYIRVTEDENDEPIEI → MPQMLAGEIWCMLSTIQK
     19-134: Missing.

Show »
Length:298
Mass (Da):31,808
Checksum:i22F381E08083AB08
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 23 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WX29A0A087WX29_HUMAN
TAR DNA-binding protein 43
TARDBP
243Annotation 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>
A0A0A0N0M3A0A0A0N0M3_HUMAN
TAR DNA-binding protein 43
TARDBP TDP43
269Annotation 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>
K7EJM5K7EJM5_HUMAN
TAR DNA-binding protein 43
TARDBP
201Annotation 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>
B1AKP7B1AKP7_HUMAN
TAR DNA-binding protein 43
TARDBP
295Annotation 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>
G3V162G3V162_HUMAN
TAR DNA-binding protein 43
TARDBP hCG_2005583
298Annotation 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>
K7EN94K7EN94_HUMAN
TAR DNA-binding protein 43
TARDBP
275Annotation 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>
A0A087WYY0A0A087WYY0_HUMAN
TAR DNA-binding protein 43
TARDBP
304Annotation 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>
A0A087X260A0A087X260_HUMAN
TAR DNA-binding protein 43
TARDBP
301Annotation 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>
A0A0A0MSV7A0A0A0MSV7_HUMAN
TAR DNA-binding protein 43
TARDBP TDP43
84Annotation 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>
K7EJ99K7EJ99_HUMAN
TAR DNA-binding protein 43
TARDBP
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 ABO32290 differs from that shown. Probable cloning artifact.Curated
The sequence ABO32292 differs from that shown. Probable cloning artifact.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 conflicti200E → G in BAD96474 (Ref. 5) Curated1
Sequence conflicti278G → V in BAG35326 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04565690A → V4 PublicationsCorresponds to variant dbSNP:rs80356715EnsemblClinVar.1
Natural variantiVAR_045657169D → G in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356717EnsemblClinVar.1
Natural variantiVAR_058611267N → S in ALS10; also in a patient with frontotemporal dementia. 1 PublicationCorresponds to variant dbSNP:rs80356718EnsemblClinVar.1
Natural variantiVAR_045658287G → S in ALS10; loss of ability to negatively regulate the expression of CDK6. 3 PublicationsCorresponds to variant dbSNP:rs80356719EnsemblClinVar.1
Natural variantiVAR_045659290G → A in ALS10. 1 PublicationCorresponds to variant dbSNP:rs121908395EnsemblClinVar.1
Natural variantiVAR_045660294G → A in ALS10. 2 PublicationsCorresponds to variant dbSNP:rs80356721EnsemblClinVar.1
Natural variantiVAR_058612294G → V in ALS10; a patient with bulbar signs and dementia. 1 PublicationCorresponds to variant dbSNP:rs80356721EnsemblClinVar.1
Natural variantiVAR_058613295G → R in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356723EnsemblClinVar.1
Natural variantiVAR_058614295G → S in ALS10; also in patients with frontotemporal lobar degeneration with motor neuron disease. 1 PublicationCorresponds to variant dbSNP:rs80356723EnsemblClinVar.1
Natural variantiVAR_045661298G → S in ALS10. 1 PublicationCorresponds to variant dbSNP:rs4884357EnsemblClinVar.1
Natural variantiVAR_045662315A → T in ALS10; slight reduction in interaction with PPIA/CYPA. 3 PublicationsCorresponds to variant dbSNP:rs80356726EnsemblClinVar.1
Natural variantiVAR_083737321A → V in ALS10; loss of ability to negatively regulate the expression of CDK6. 1 Publication1
Natural variantiVAR_045663331Q → K in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos; does not affect the interaction with ATXN2. 2 PublicationsCorresponds to variant dbSNP:rs80356727EnsemblClinVar.1
Natural variantiVAR_058615332S → N in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356728Ensembl.1
Natural variantiVAR_058616335G → D in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356729Ensembl.1
Natural variantiVAR_045664337M → V in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos; loss of ability to negatively regulate the expression of CDK6. 3 PublicationsCorresponds to variant dbSNP:rs80356730EnsemblClinVar.1
Natural variantiVAR_062767343Q → R in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356731EnsemblClinVar.1
Natural variantiVAR_045665348G → C in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356733EnsemblClinVar.1
Natural variantiVAR_083738348G → V in ALS10; loss of interaction with PPIA/CYPA. 2 Publications1
Natural variantiVAR_067499357G → R in ALS10. 1 Publication1
Natural variantiVAR_045666361R → S in ALS10; significant reduction in interaction with PPIA/CYPA. 2 PublicationsCorresponds to variant dbSNP:rs80356735Ensembl.1
Natural variantiVAR_067500361R → T in ALS10. 1 Publication1
Natural variantiVAR_058617379S → C in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356739Ensembl.1
Natural variantiVAR_058618379S → P in ALS10. 2 PublicationsCorresponds to variant dbSNP:rs80356738Ensembl.1
Natural variantiVAR_045667382A → T in ALS10. 4 PublicationsCorresponds to variant dbSNP:rs367543041EnsemblClinVar.1
Natural variantiVAR_045668390N → D in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356741Ensembl.1
Natural variantiVAR_045669390N → S in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356742Ensembl.1
Natural variantiVAR_058619393S → L in ALS10. 1 PublicationCorresponds to variant dbSNP:rs80356743Ensembl.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_0564061 – 18MSEYI…EPIEI → MPQMLAGEIWCMLSTIQK in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_05640719 – 134Missing in isoform 2. 1 PublicationAdd BLAST116

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U23731 mRNA Translation: AAA70033.1
EF434181 mRNA Translation: ABO32290.1 Sequence problems.
EF434182 mRNA Translation: ABO32291.1
EF434183 mRNA Translation: ABO32292.1 Sequence problems.
AK295920 mRNA Translation: BAG58707.1
AK312416 mRNA Translation: BAG35326.1
CR533534 mRNA Translation: CAG38565.1
AK222754 mRNA Translation: BAD96474.1
AL050265 mRNA Translation: CAB43367.1
AL109811 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71670.1
BC071657 mRNA Translation: AAH71657.1
BC095435 mRNA Translation: AAH95435.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS122.1 [Q13148-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I38977

NCBI Reference Sequences

More...
RefSeqi
NP_031401.1, NM_007375.3 [Q13148-1]
XP_016856352.1, XM_017000863.1 [Q13148-1]
XP_016856353.1, XM_017000864.1 [Q13148-1]
XP_016856354.1, XM_017000865.1 [Q13148-1]
XP_016856355.1, XM_017000866.1 [Q13148-1]
XP_016856356.1, XM_017000867.1 [Q13148-1]
XP_016856357.1, XM_017000868.1 [Q13148-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000240185; ENSP00000240185; ENSG00000120948 [Q13148-1]
ENST00000639083; ENSP00000491203; ENSG00000120948 [Q13148-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23435

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23435

UCSC genome browser

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UCSCi
uc001art.4, human [Q13148-1]

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
U23731 mRNA Translation: AAA70033.1
EF434181 mRNA Translation: ABO32290.1 Sequence problems.
EF434182 mRNA Translation: ABO32291.1
EF434183 mRNA Translation: ABO32292.1 Sequence problems.
AK295920 mRNA Translation: BAG58707.1
AK312416 mRNA Translation: BAG35326.1
CR533534 mRNA Translation: CAG38565.1
AK222754 mRNA Translation: BAD96474.1
AL050265 mRNA Translation: CAB43367.1
AL109811 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71670.1
BC071657 mRNA Translation: AAH71657.1
BC095435 mRNA Translation: AAH95435.1
CCDSiCCDS122.1 [Q13148-1]
PIRiI38977
RefSeqiNP_031401.1, NM_007375.3 [Q13148-1]
XP_016856352.1, XM_017000863.1 [Q13148-1]
XP_016856353.1, XM_017000864.1 [Q13148-1]
XP_016856354.1, XM_017000865.1 [Q13148-1]
XP_016856355.1, XM_017000866.1 [Q13148-1]
XP_016856356.1, XM_017000867.1 [Q13148-1]
XP_016856357.1, XM_017000868.1 [Q13148-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WF0NMR-A193-267[»]
2CQGNMR-A96-185[»]
2N2CNMR-A307-349[»]
2N3XNMR-A311-360[»]
2N4GNMR-A311-360[»]
2N4HNMR-A311-360[»]
2N4PNMR-A1-77[»]
4BS2NMR-A102-269[»]
4IUFX-ray2.75A103-179[»]
4Y00X-ray3.00A/B/C/D101-191[»]
4Y0FX-ray2.65A/B101-191[»]
5MDIX-ray2.10A/B2-80[»]
5MRGNMR-A1-102[»]
5W50X-ray1.40A/B248-253[»]
5W52electron microscopy1.40A247-257[»]
5W7Velectron microscopy3.800/1/2/3/4/5/6/7/8247-257[»]
5WHNX-ray1.10A312-317[»]
5WHPX-ray1.00A312-317[»]
5WIAX-ray1.00A370-375[»]
5WIQX-ray1.25A/B396-402[»]
5WKBelectron microscopy1.00A312-317[»]
5WKDX-ray1.80A300-306[»]
5X4FNMR-A1-77[»]
6B1GNMR-A/B1-80[»]
6CF4electron microscopy0.75A312-317[»]
6CFHelectron microscopy1.50A/B333-343[»]
6N37electron microscopy3.80A/B/C/D/E/F/G/H/I/J311-360[»]
6N3Aelectron microscopy3.30A/B/C/D/E/F/G/H/I/J311-360[»]
6N3Belectron microscopy3.80A/B/C/D/E/F/G/H/I/J311-360[»]
6N3Celectron microscopy3.30A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T286-331[»]
6T4BX-ray2.55A/C/E/G/I1-80[»]
7KWZelectron microscopy3.20A/B/C/D/E267-414[»]
BMRBiQ13148
SMRiQ13148
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117003, 446 interactors
CORUMiQ13148
DIPiDIP-31167N
IntActiQ13148, 258 interactors
MINTiQ13148
STRINGi9606.ENSP00000240185

Chemistry databases

ChEMBLiCHEMBL2362981

PTM databases

iPTMnetiQ13148
MetOSiteiQ13148
PhosphoSitePlusiQ13148
SwissPalmiQ13148

Genetic variation databases

BioMutaiTARDBP
DMDMi20140568

Proteomic databases

EPDiQ13148
jPOSTiQ13148
MassIVEiQ13148
MaxQBiQ13148
PaxDbiQ13148
PeptideAtlasiQ13148
PRIDEiQ13148
ProteomicsDBi4344
59189 [Q13148-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
1854, 952 antibodies

The DNASU plasmid repository

More...
DNASUi
23435

Genome annotation databases

EnsembliENST00000240185; ENSP00000240185; ENSG00000120948 [Q13148-1]
ENST00000639083; ENSP00000491203; ENSG00000120948 [Q13148-1]
GeneIDi23435
KEGGihsa:23435
UCSCiuc001art.4, human [Q13148-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23435
DisGeNETi23435

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TARDBP
GeneReviewsiTARDBP
HGNCiHGNC:11571, TARDBP
HPAiENSG00000120948, Low tissue specificity
MalaCardsiTARDBP
MIMi605078, gene
612069, phenotype
neXtProtiNX_Q13148
OpenTargetsiENSG00000120948
Orphaneti803, Amyotrophic lateral sclerosis
275872, Frontotemporal dementia with motor neuron disease
PharmGKBiPA36336
VEuPathDBiHostDB:ENSG00000120948.15

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QPQ8, Eukaryota
GeneTreeiENSGT00940000154343
HOGENOMiCLU_012062_6_1_1
InParanoidiQ13148
OMAiFCEIKRK
PhylomeDBiQ13148
TreeFamiTF315657

Enzyme and pathway databases

PathwayCommonsiQ13148
SIGNORiQ13148

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
23435, 683 hits in 969 CRISPR screens

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

More...
ChiTaRSi
TARDBP, human
EvolutionaryTraceiQ13148

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TARDBP

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

More...
GenomeRNAii
23435
PharosiQ13148, Tbio

Protein Ontology

More...
PROi
PR:Q13148
RNActiQ13148, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000120948, Expressed in subventricular zone (outer) (primate) and 246 other tissues
ExpressionAtlasiQ13148, baseline and differential
GenevisibleiQ13148, HS

Family and domain databases

DisProtiDP01108
Gene3Di3.30.70.330, 2 hits
InterProiView protein in InterPro
IPR012677, Nucleotide-bd_a/b_plait_sf
IPR035979, RBD_domain_sf
IPR000504, RRM_dom
IPR041105, TDP43_N
PfamiView protein in Pfam
PF00076, RRM_1, 2 hits
PF18694, TDP43_N, 1 hit
SMARTiView protein in SMART
SM00360, RRM, 2 hits
SUPFAMiSSF54928, SSF54928, 2 hits
PROSITEiView protein in PROSITE
PS50102, RRM, 2 hits

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 nameiTADBP_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: Q13148
Secondary accession number(s): A4GUK4
, A4GUK5, A4GUK6, B2R629, B4DJ45, E2PU12, Q53H27, Q6FI92, Q96DJ0
<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: March 27, 2002
Last sequence update: November 1, 1996
Last modified: June 2, 2021
This is version 221 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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