Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q13148

- TADBP_HUMAN

UniProt

Q13148 - TADBP_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

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. RNA binding Source: BHF-UCL
  7. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  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
Complete GO annotation...

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
Complete GO annotation...

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 – 2921Phosphoserine1 Publication

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

BgeeiQ13148.
CleanExiHS_TARDBP.
ExpressionAtlasiQ13148. baseline and differential.
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. 286 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.
GeneTreeiENSGT00730000110584.
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

        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
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. [Q13148-1]
PIRiI38977.
RefSeqiNP_031401.1. NM_007375.3.
UniGeneiHs.300624.

Genome annotation databases

EnsembliENST00000240185; ENSP00000240185; ENSG00000120948. [Q13148-1]
GeneIDi23435.
KEGGihsa:23435.
UCSCiuc001art.3. human. [Q13148-1]

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. [Q13148-1 ]
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. 286 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 . [Q13148-1 ]
GeneIDi 23435.
KEGGi hsa:23435.
UCSCi uc001art.3. human. [Q13148-1 ]

Organism-specific databases

CTDi 23435.
GeneCardsi GC01P011072.
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.
GeneTreei ENSGT00730000110584.
HOVERGENi HBG058671.
InParanoidi Q13148.
OMAi KHNSSRQ.
PhylomeDBi Q13148.
TreeFami TF315657.

Miscellaneous databases

ChiTaRSi TARDBP. human.
EvolutionaryTracei Q13148.
GeneWikii TARDBP.
GenomeRNAii 23435.
NextBioi 35472434.
PROi Q13148.
SOURCEi Search...

Gene expression databases

Bgeei Q13148.
CleanExi HS_TARDBP.
ExpressionAtlasi Q13148. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 156 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