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Q13148

- TADBP_HUMAN

UniProt

Q13148 - TADBP_HUMAN

Protein

TAR DNA-binding protein 43

Gene

TARDBP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 155 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR.2 Publications

    GO - Molecular functioni

    1. double-stranded DNA binding Source: BHF-UCL
    2. identical protein binding Source: IntAct
    3. mRNA 3'-UTR binding Source: BHF-UCL
    4. nucleotide binding Source: InterPro
    5. poly(A) RNA binding Source: UniProtKB
    6. protein binding Source: UniProtKB
    7. RNA binding Source: BHF-UCL
    8. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. 3'-UTR-mediated mRNA stabilization Source: BHF-UCL
    2. cell death Source: UniProtKB-KW
    3. mRNA processing Source: UniProtKB-KW
    4. negative regulation by host of viral transcription Source: BHF-UCL
    5. RNA splicing Source: BHF-UCL
    6. transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    mRNA processing, mRNA splicing, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    TAR DNA-binding protein 43
    Short name:
    TDP-43
    Gene namesi
    Name:TARDBP
    Synonyms:TDP43
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:11571. TARDBP.

    Subcellular locationi

    Nucleus 2 Publications
    Note: In patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis, it is absent from the nucleus of affected neurons but it is the primary component of cytoplasmic ubiquitin-positive inclusion bodies.

    GO - Cellular componenti

    1. nucleus Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]: A 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.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti169 – 1691D → G in ALS10. 1 Publication
    Corresponds to variant rs80356717 [ dbSNP | Ensembl ].
    VAR_045657
    Natural varianti267 – 2671N → S in ALS10; also in a patient with frontotemporal dementia. 1 Publication
    Corresponds to variant rs80356718 [ dbSNP | Ensembl ].
    VAR_058611
    Natural varianti287 – 2871G → S in ALS10. 2 Publications
    Corresponds to variant rs80356719 [ dbSNP | Ensembl ].
    VAR_045658
    Natural varianti290 – 2901G → A in ALS10. 1 Publication
    Corresponds to variant rs121908395 [ dbSNP | Ensembl ].
    VAR_045659
    Natural varianti294 – 2941G → A in ALS10. 2 Publications
    Corresponds to variant rs80356721 [ dbSNP | Ensembl ].
    VAR_045660
    Natural varianti294 – 2941G → V in ALS10; a patient with bulbar signs and dementia. 1 Publication
    VAR_058612
    Natural varianti295 – 2951G → R in ALS10. 1 Publication
    Corresponds to variant rs80356723 [ dbSNP | Ensembl ].
    VAR_058613
    Natural varianti295 – 2951G → S in ALS10; also in patients with frontotemporal lobar degeneration with motor neuron disease. 1 Publication
    Corresponds to variant rs80356723 [ dbSNP | Ensembl ].
    VAR_058614
    Natural varianti298 – 2981G → S in ALS10. 1 Publication
    Corresponds to variant rs4884357 [ dbSNP | Ensembl ].
    VAR_045661
    Natural varianti315 – 3151A → T in ALS10. 2 Publications
    Corresponds to variant rs80356726 [ dbSNP | Ensembl ].
    VAR_045662
    Natural varianti331 – 3311Q → 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 ATNX2. 1 Publication
    Corresponds to variant rs80356727 [ dbSNP | Ensembl ].
    VAR_045663
    Natural varianti332 – 3321S → N in ALS10. 1 Publication
    Corresponds to variant rs80356728 [ dbSNP | Ensembl ].
    VAR_058615
    Natural varianti335 – 3351G → D in ALS10. 1 Publication
    Corresponds to variant rs80356729 [ dbSNP | Ensembl ].
    VAR_058616
    Natural varianti337 – 3371M → V in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos. 2 Publications
    Corresponds to variant rs80356730 [ dbSNP | Ensembl ].
    VAR_045664
    Natural varianti343 – 3431Q → R in ALS10. 1 Publication
    Corresponds to variant rs80356731 [ dbSNP | Ensembl ].
    VAR_062767
    Natural varianti348 – 3481G → C in ALS10. 1 Publication
    Corresponds to variant rs80356733 [ dbSNP | Ensembl ].
    VAR_045665
    Natural varianti357 – 3571G → R in ALS10. 1 Publication
    VAR_067499
    Natural varianti361 – 3611R → S in ALS10. 1 Publication
    Corresponds to variant rs80356735 [ dbSNP | Ensembl ].
    VAR_045666
    Natural varianti361 – 3611R → T in ALS10. 1 Publication
    VAR_067500
    Natural varianti379 – 3791S → C in ALS10. 1 Publication
    Corresponds to variant rs80356739 [ dbSNP | Ensembl ].
    VAR_058617
    Natural varianti379 – 3791S → P in ALS10. 2 Publications
    Corresponds to variant rs80356738 [ dbSNP | Ensembl ].
    VAR_058618
    Natural varianti382 – 3821A → T in ALS10. 4 Publications
    Corresponds to variant rs11689432 [ dbSNP | Ensembl ].
    VAR_045667
    Natural varianti390 – 3901N → D in ALS10. 1 Publication
    Corresponds to variant rs80356741 [ dbSNP | Ensembl ].
    VAR_045668
    Natural varianti390 – 3901N → S in ALS10. 1 Publication
    Corresponds to variant rs80356742 [ dbSNP | Ensembl ].
    VAR_045669
    Natural varianti393 – 3931S → L in ALS10. 1 Publication
    Corresponds to variant rs80356743 [ dbSNP | Ensembl ].
    VAR_058619

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi106 – 17570Missing: Completely abolishes RNA binding. 1 PublicationAdd
    BLAST
    Mutagenesisi106 – 1116LIVLGL → DIDLGD: Completely abolishes RNA binding. 1 Publication
    Mutagenesisi106 – 1116Missing: Completely abolishes RNA binding. 1 Publication
    Mutagenesisi147 – 1493FGF → LGL: Highly reduces binding to RNA and DNA. 1 Publication
    Mutagenesisi193 – 25765Missing: Alters but does not abolish RNA binding. 1 PublicationAdd
    BLAST

    Keywords - Diseasei

    Amyotrophic lateral sclerosis, Disease mutation, Neurodegeneration

    Organism-specific databases

    MIMi612069. phenotype.
    Orphaneti803. Amyotrophic lateral sclerosis.
    275872. Frontotemporal dementia with motor neuron disease.
    PharmGKBiPA36336.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 414414TAR DNA-binding protein 43PRO_0000081972Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei292 – 2921Phosphoserine2 Publications

    Post-translational modificationi

    Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
    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

    Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ13148.
    PaxDbiQ13148.
    PRIDEiQ13148.

    PTM databases

    PhosphoSiteiQ13148.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ13148.
    BgeeiQ13148.
    CleanExiHS_TARDBP.
    GenevestigatoriQ13148.

    Organism-specific databases

    HPAiCAB003703.
    HPA017284.

    Interactioni

    Subunit structurei

    Homodimer. 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 ATNX2; the interaction is RNA-dependent. Interacts with MATR3.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself15EBI-372899,EBI-372899
    IRAK2O431872EBI-372899,EBI-447733

    Protein-protein interaction databases

    BioGridi117003. 284 interactions.
    DIPiDIP-31167N.
    IntActiQ13148. 23 interactions.
    MINTiMINT-5002768.
    STRINGi9606.ENSP00000240185.

    Structurei

    Secondary structure

    1
    414
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi106 – 1094
    Helixi117 – 1259
    Beta strandi130 – 1378
    Turni139 – 1413
    Beta strandi144 – 15411
    Helixi155 – 1628
    Beta strandi166 – 1683
    Beta strandi171 – 1766
    Beta strandi193 – 1975
    Beta strandi200 – 2023
    Helixi204 – 2107
    Turni212 – 2143
    Beta strandi219 – 2213
    Beta strandi231 – 2333
    Helixi237 – 2426
    Turni243 – 2453
    Beta strandi247 – 2504
    Beta strandi253 – 2586
    Beta strandi263 – 2653

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1WF0NMR-A193-267[»]
    2CQGNMR-A96-185[»]
    4BS2NMR-A102-269[»]
    4IUFX-ray2.75A103-179[»]
    ProteinModelPortaliQ13148.
    SMRiQ13148. Positions 67-269.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ13148.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini104 – 20097RRM 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini191 – 26272RRM 2PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi274 – 413140Gly-richAdd
    BLAST

    Domaini

    The RRM domains can bind to both DNA and RNA.By similarity

    Sequence similaritiesi

    Contains 2 RRM (RNA recognition motif) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG0724.
    HOVERGENiHBG058671.
    InParanoidiQ13148.
    OMAiKHNSSRQ.
    PhylomeDBiQ13148.
    TreeFamiTF315657.

    Family and domain databases

    Gene3Di3.30.70.330. 2 hits.
    InterProiIPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view]
    PfamiPF00076. RRM_1. 2 hits.
    [Graphical view]
    SMARTiSM00360. RRM. 2 hits.
    [Graphical view]
    PROSITEiPS50102. RRM. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q13148-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSEYIRVTED ENDEPIEIPS EDDGTVLLST VTAQFPGACG LRYRNPVSQC    50
    MRGVRLVEGI LHAPDAGWGN LVYVVNYPKD NKRKMDETDA SSAVKVKRAV 100
    QKTSDLIVLG LPWKTTEQDL KEYFSTFGEV LMVQVKKDLK TGHSKGFGFV 150
    RFTEYETQVK VMSQRHMIDG RWCDCKLPNS KQSQDEPLRS RKVFVGRCTE 200
    DMTEDELREF FSQYGDVMDV FIPKPFRAFA FVTFADDQIA QSLCGEDLII 250
    KGISVHISNA EPKHNSNRQL ERSGRFGGNP GGFGNQGGFG NSRGGGAGLG 300
    NNQGSNMGGG MNFGAFSINP AMMAAAQAAL QSSWGMMGML ASQQNQSGPS 350
    GNNQNQGNMQ REPNQAFGSG NNSYSGSNSG AAIGWGSASN AGSGSGFNGG 400
    FGSSMDSKSS GWGM 414
    Length:414
    Mass (Da):44,740
    Last modified:November 1, 1996 - v1
    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.

    Note: No experimental confirmation available.

    Show »
    Length:298
    Mass (Da):31,808
    Checksum:i22F381E08083AB08
    GO

    Sequence cautioni

    The sequence ABO32290.1 differs from that shown. Reason: Probable cloning artifact.
    The sequence ABO32292.1 differs from that shown. Reason: Probable cloning artifact.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti200 – 2001E → G in BAD96474. 1 PublicationCurated
    Sequence conflicti278 – 2781G → V in BAG35326. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901A → V.3 Publications
    Corresponds to variant rs80356715 [ dbSNP | Ensembl ].
    VAR_045656
    Natural varianti169 – 1691D → G in ALS10. 1 Publication
    Corresponds to variant rs80356717 [ dbSNP | Ensembl ].
    VAR_045657
    Natural varianti267 – 2671N → S in ALS10; also in a patient with frontotemporal dementia. 1 Publication
    Corresponds to variant rs80356718 [ dbSNP | Ensembl ].
    VAR_058611
    Natural varianti287 – 2871G → S in ALS10. 2 Publications
    Corresponds to variant rs80356719 [ dbSNP | Ensembl ].
    VAR_045658
    Natural varianti290 – 2901G → A in ALS10. 1 Publication
    Corresponds to variant rs121908395 [ dbSNP | Ensembl ].
    VAR_045659
    Natural varianti294 – 2941G → A in ALS10. 2 Publications
    Corresponds to variant rs80356721 [ dbSNP | Ensembl ].
    VAR_045660
    Natural varianti294 – 2941G → V in ALS10; a patient with bulbar signs and dementia. 1 Publication
    VAR_058612
    Natural varianti295 – 2951G → R in ALS10. 1 Publication
    Corresponds to variant rs80356723 [ dbSNP | Ensembl ].
    VAR_058613
    Natural varianti295 – 2951G → S in ALS10; also in patients with frontotemporal lobar degeneration with motor neuron disease. 1 Publication
    Corresponds to variant rs80356723 [ dbSNP | Ensembl ].
    VAR_058614
    Natural varianti298 – 2981G → S in ALS10. 1 Publication
    Corresponds to variant rs4884357 [ dbSNP | Ensembl ].
    VAR_045661
    Natural varianti315 – 3151A → T in ALS10. 2 Publications
    Corresponds to variant rs80356726 [ dbSNP | Ensembl ].
    VAR_045662
    Natural varianti331 – 3311Q → 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 ATNX2. 1 Publication
    Corresponds to variant rs80356727 [ dbSNP | Ensembl ].
    VAR_045663
    Natural varianti332 – 3321S → N in ALS10. 1 Publication
    Corresponds to variant rs80356728 [ dbSNP | Ensembl ].
    VAR_058615
    Natural varianti335 – 3351G → D in ALS10. 1 Publication
    Corresponds to variant rs80356729 [ dbSNP | Ensembl ].
    VAR_058616
    Natural varianti337 – 3371M → V in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos. 2 Publications
    Corresponds to variant rs80356730 [ dbSNP | Ensembl ].
    VAR_045664
    Natural varianti343 – 3431Q → R in ALS10. 1 Publication
    Corresponds to variant rs80356731 [ dbSNP | Ensembl ].
    VAR_062767
    Natural varianti348 – 3481G → C in ALS10. 1 Publication
    Corresponds to variant rs80356733 [ dbSNP | Ensembl ].
    VAR_045665
    Natural varianti357 – 3571G → R in ALS10. 1 Publication
    VAR_067499
    Natural varianti361 – 3611R → S in ALS10. 1 Publication
    Corresponds to variant rs80356735 [ dbSNP | Ensembl ].
    VAR_045666
    Natural varianti361 – 3611R → T in ALS10. 1 Publication
    VAR_067500
    Natural varianti379 – 3791S → C in ALS10. 1 Publication
    Corresponds to variant rs80356739 [ dbSNP | Ensembl ].
    VAR_058617
    Natural varianti379 – 3791S → P in ALS10. 2 Publications
    Corresponds to variant rs80356738 [ dbSNP | Ensembl ].
    VAR_058618
    Natural varianti382 – 3821A → T in ALS10. 4 Publications
    Corresponds to variant rs11689432 [ dbSNP | Ensembl ].
    VAR_045667
    Natural varianti390 – 3901N → D in ALS10. 1 Publication
    Corresponds to variant rs80356741 [ dbSNP | Ensembl ].
    VAR_045668
    Natural varianti390 – 3901N → S in ALS10. 1 Publication
    Corresponds to variant rs80356742 [ dbSNP | Ensembl ].
    VAR_045669
    Natural varianti393 – 3931S → L in ALS10. 1 Publication
    Corresponds to variant rs80356743 [ dbSNP | Ensembl ].
    VAR_058619

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1818MSEYI…EPIEI → MPQMLAGEIWCMLSTIQK in isoform 2. 1 PublicationVSP_056406Add
    BLAST
    Alternative sequencei19 – 134116Missing in isoform 2. 1 PublicationVSP_056407Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. Translation: CAI22098.1.
    CH471130 Genomic DNA. Translation: EAW71670.1.
    BC071657 mRNA. Translation: AAH71657.1.
    BC095435 mRNA. Translation: AAH95435.1.
    CCDSiCCDS122.1.
    PIRiI38977.
    RefSeqiNP_031401.1. NM_007375.3.
    UniGeneiHs.300624.

    Genome annotation databases

    EnsembliENST00000240185; ENSP00000240185; ENSG00000120948.
    ENST00000439080; ENSP00000404666; ENSG00000120948.
    GeneIDi23435.
    KEGGihsa:23435.
    UCSCiuc001art.3. human.

    Polymorphism databases

    DMDMi20140568.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. Translation: CAI22098.1 .
    CH471130 Genomic DNA. Translation: EAW71670.1 .
    BC071657 mRNA. Translation: AAH71657.1 .
    BC095435 mRNA. Translation: AAH95435.1 .
    CCDSi CCDS122.1.
    PIRi I38977.
    RefSeqi NP_031401.1. NM_007375.3.
    UniGenei Hs.300624.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1WF0 NMR - A 193-267 [» ]
    2CQG NMR - A 96-185 [» ]
    4BS2 NMR - A 102-269 [» ]
    4IUF X-ray 2.75 A 103-179 [» ]
    ProteinModelPortali Q13148.
    SMRi Q13148. Positions 67-269.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117003. 284 interactions.
    DIPi DIP-31167N.
    IntActi Q13148. 23 interactions.
    MINTi MINT-5002768.
    STRINGi 9606.ENSP00000240185.

    Chemistry

    ChEMBLi CHEMBL2362981.

    PTM databases

    PhosphoSitei Q13148.

    Polymorphism databases

    DMDMi 20140568.

    Proteomic databases

    MaxQBi Q13148.
    PaxDbi Q13148.
    PRIDEi Q13148.

    Protocols and materials databases

    DNASUi 23435.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000240185 ; ENSP00000240185 ; ENSG00000120948 .
    ENST00000439080 ; ENSP00000404666 ; ENSG00000120948 .
    GeneIDi 23435.
    KEGGi hsa:23435.
    UCSCi uc001art.3. human.

    Organism-specific databases

    CTDi 23435.
    GeneCardsi GC01P011006.
    GeneReviewsi TARDBP.
    HGNCi HGNC:11571. TARDBP.
    HPAi CAB003703.
    HPA017284.
    MIMi 605078. gene.
    612069. phenotype.
    neXtProti NX_Q13148.
    Orphaneti 803. Amyotrophic lateral sclerosis.
    275872. Frontotemporal dementia with motor neuron disease.
    PharmGKBi PA36336.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0724.
    HOVERGENi HBG058671.
    InParanoidi Q13148.
    OMAi KHNSSRQ.
    PhylomeDBi Q13148.
    TreeFami TF315657.

    Miscellaneous databases

    ChiTaRSi TARDBP. human.
    EvolutionaryTracei Q13148.
    GeneWikii TARDBP.
    GenomeRNAii 23435.
    NextBioi 45695.
    PROi Q13148.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13148.
    Bgeei Q13148.
    CleanExi HS_TARDBP.
    Genevestigatori Q13148.

    Family and domain databases

    Gene3Di 3.30.70.330. 2 hits.
    InterProi IPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view ]
    Pfami PF00076. RRM_1. 2 hits.
    [Graphical view ]
    SMARTi SM00360. RRM. 2 hits.
    [Graphical view ]
    PROSITEi PS50102. RRM. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs."
      Ou S.-H.I., Wu F., Harrich D., Garcia-Martinez L.F., Gaynor R.B.
      J. Virol. 69:3584-3596(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHARACTERIZATION.
      Tissue: Cervix carcinoma.
    2. "TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein."
      Strong M.J., Volkening K., Hammond R., Yang W., Strong W., Leystra-Lantz C., Shoesmith C.
      Mol. Cell. Neurosci. 35:320-327(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, UBIQUITINATION.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain and Substantia nigra.
    4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Liver.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    7. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Lymph and Testis.
    10. Lubec G., Afjehi-Sadat L.
      Submitted (MAR-2007) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 122-136 AND 276-293, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Brain and Cajal-Retzius cell.
    11. Cited for: PROTEIN SEQUENCE OF 252-263; 276-293 AND 409-414, SUBCELLULAR LOCATION, PHOSPHORYLATION, UBIQUITINATION.
    12. "Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping."
      Buratti E., Doerk T., Zuccato E., Pagani F., Romano M., Baralle F.E.
      EMBO J. 20:1774-1784(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    13. "Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9."
      Buratti E., Baralle F.E.
      J. Biol. Chem. 276:36337-36343(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: RNA-BINDING, MUTAGENESIS.
    14. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-292, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    16. Cited for: INTERACTION WITH ATNX2, CHARACTERIZATION OF VARIANT ALS10 LYS-331.
    17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    19. Cited for: INTERACTION WITH MATR3.
    20. "Solution structure of the RNA binding domains of TAR DNA-binding protein-43."
      RIKEN structural genomics initiative (RSGI)
      Submitted (NOV-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 96-267.
    21. "Solution structure of RRM domain in tar DNA-binding protein-43."
      RIKEN structural genomics initiative (RSGI)
      Submitted (FEB-2009) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 193-267.
    22. Cited for: VARIANT ALS10 THR-315.
    23. Cited for: VARIANT ALS10 ARG-343.
    24. Cited for: VARIANTS ALS10 ALA-290 AND SER-298.
    25. Cited for: VARIANTS ALS10 GLY-169; SER-287; THR-315; CYS-348; SER-361; THR-382; ASP-390 AND SER-390, VARIANT VAL-90.
    26. Cited for: VARIANTS ALS10 ALA-294; LYS-331 AND VAL-337, VARIANT VAL-90, CHARACTERIZATION OF VARIANTS ALS10 LYS-331 AND VAL-337.
    27. Cited for: INVOLVEMENT OF VARIANT ALS10 SER-295 IN FRONTOTEMPORAL LOBAR DEGENERATION WITH MOTOR NEURON DISEASE.
    28. "High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis."
      Corrado L., Ratti A., Gellera C., Buratti E., Castellotti B., Carlomagno Y., Ticozzi N., Mazzini L., Testa L., Taroni F., Baralle F.E., Silani V., D'Alfonso S.
      Hum. Mutat. 30:688-694(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALS10 SER-267; SER-287; VAL-294; SER-295; ARG-295; ASN-332; ASP-335; VAL-337; PRO-379; CYS-379; THR-382 AND LEU-393.
    29. "Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease."
      Borroni B., Bonvicini C., Alberici A., Buratti E., Agosti C., Archetti S., Papetti A., Stuani C., Di Luca M., Gennarelli M., Padovani A.
      Hum. Mutat. 30:E974-E983(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT OF VARIANT ALS10 SER-267 IN FRONTOTEMPORAL DEMENTIA.
    30. "Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis."
      Luquin N., Yu B., Saunderson R.B., Trent R.J., Pamphlett R.
      Neuromuscul. Disord. 19:696-700(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALS10 ALA-294.
    31. Cited for: VARIANT ALS10 THR-382.
    32. "High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis."
      Orru S., Manolakos E., Orru N., Kokotas H., Mascia V., Carcassi C., Petersen M.B.
      Clin. Genet. 81:172-178(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALS10 THR-382.
    33. Cited for: VARIANT VAL-90, VARIANTS ALS10 ARG-357; THR-361 AND PRO-379.

    Entry informationi

    Entry nameiTADBP_HUMAN
    AccessioniPrimary (citable) accession number: Q13148
    Secondary accession number(s): A4GUK4
    , A4GUK5, A4GUK6, B2R629, B4DJ45, E2PU12, Q53H27, Q6FI92, Q96DJ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 27, 2002
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 155 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, 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 polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3