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Protein

TAR DNA-binding protein 43

Gene

TARDBP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific Source: GO_Central
  • DNA-binding transcription factor activity Source: ProtInc
  • double-stranded DNA binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • mRNA 3'-UTR binding Source: BHF-UCL
  • RNA binding Source: BHF-UCL
  • sequence-specific double-stranded DNA binding Source: Ensembl
  • single-stranded RNA binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor, RNA-binding
Biological processmRNA processing, mRNA splicing, Transcription, Transcription regulation

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000120948.15
HGNCiHGNC:11571 TARDBP
MIMi605078 gene
neXtProtiNX_Q13148

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Amyotrophic lateral sclerosis 10 (ALS10)13 Publications
The disease is caused by mutations 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.
See also OMIM:612069
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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. 2 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. 2 PublicationsCorresponds to variant dbSNP:rs80356726EnsemblClinVar.1
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 ATNX2. 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. 2 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_067499357G → R in ALS10. 1 Publication1
Natural variantiVAR_045666361R → S in ALS10. 1 PublicationCorresponds 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
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 mutation, Neurodegeneration

Organism-specific databases

DisGeNETi23435
GeneReviewsiTARDBP
MalaCardsiTARDBP
MIMi612069 phenotype
OpenTargetsiENSG00000120948
Orphaneti803 Amyotrophic lateral sclerosis
275872 Frontotemporal dementia with motor neuron disease
PharmGKBiPA36336

Chemistry databases

ChEMBLiCHEMBL2362981

Polymorphism and mutation databases

BioMutaiTARDBP
DMDMi20140568

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000819721 – 414TAR DNA-binding protein 43Add BLAST414

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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

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

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ13148
MaxQBiQ13148
PaxDbiQ13148
PeptideAtlasiQ13148
PRIDEiQ13148
ProteomicsDBi59189

PTM databases

iPTMnetiQ13148
PhosphoSitePlusiQ13148
SwissPalmiQ13148

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000120948 Expressed in 233 organ(s), highest expression level in female gonad
CleanExiHS_TARDBP
ExpressionAtlasiQ13148 baseline and differential
GenevisibleiQ13148 HS

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 (PubMed:20740007). Interacts with MATR3 (PubMed:24686783). Interacts with UBQLN2 (PubMed:23541532). Interacts with HNRNPA2B1 (PubMed:19429692). Interacts with ZNF106 (By similarity).By similarity5 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117003, 377 interactors
CORUMiQ13148
DIPiDIP-31167N
IntActiQ13148, 43 interactors
MINTiQ13148
STRINGi9606.ENSP00000240185

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliQ13148
SMRiQ13148
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13148

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini104 – 200RRM 1PROSITE-ProRule annotationAdd BLAST97
Domaini191 – 262RRM 2PROSITE-ProRule annotationAdd BLAST72

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni216 – 414Interaction with UBQLN21 PublicationAdd BLAST199

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi274 – 413Gly-richAdd BLAST140

Domaini

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IFJS Eukaryota
ENOG410ZYQJ LUCA
GeneTreeiENSGT00900000140835
HOGENOMiHOG000254792
HOVERGENiHBG058671
InParanoidiQ13148
OMAiFCEIKRK
OrthoDBiEOG091G0BJZ
PhylomeDBiQ13148
TreeFamiTF315657

Family and domain databases

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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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 '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

Computationally mapped potential isoform sequencesi

There are 23 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V162G3V162_HUMAN
TAR DNA binding protein, isoform CR...
TARDBP hCG_2005583
298Annotation score:
B1AKP7B1AKP7_HUMAN
TAR DNA-binding protein 43
TARDBP
295Annotation score:
K7EJM5K7EJM5_HUMAN
TAR DNA-binding protein 43
TARDBP
201Annotation score:
A0A087WXV3A0A087WXV3_HUMAN
TAR DNA-binding protein 43
TARDBP
175Annotation score:
A0A087WZC9A0A087WZC9_HUMAN
TAR DNA-binding protein 43
TARDBP
127Annotation score:
A0A087WV68A0A087WV68_HUMAN
TAR DNA-binding protein 43
TARDBP
212Annotation score:
K7EN94K7EN94_HUMAN
TAR DNA-binding protein 43
TARDBP
275Annotation score:
A0A087WXQ5A0A087WXQ5_HUMAN
TAR DNA-binding protein 43
TARDBP
200Annotation score:
A0A087X260A0A087X260_HUMAN
TAR DNA-binding protein 43
TARDBP
301Annotation score:
A0A087WZM1A0A087WZM1_HUMAN
TAR DNA-binding protein 43
TARDBP
78Annotation score:
There are more potential isoformsShow all

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
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 → V3 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. 2 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. 2 PublicationsCorresponds to variant dbSNP:rs80356726EnsemblClinVar.1
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 ATNX2. 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. 2 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_067499357G → R in ALS10. 1 Publication1
Natural variantiVAR_045666361R → S in ALS10. 1 PublicationCorresponds 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
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:
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]
UniGeneiHs.300624

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
UniGeneiHs.300624

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ13148
SMRiQ13148
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117003, 377 interactors
CORUMiQ13148
DIPiDIP-31167N
IntActiQ13148, 43 interactors
MINTiQ13148
STRINGi9606.ENSP00000240185

Chemistry databases

ChEMBLiCHEMBL2362981

PTM databases

iPTMnetiQ13148
PhosphoSitePlusiQ13148
SwissPalmiQ13148

Polymorphism and mutation databases

BioMutaiTARDBP
DMDMi20140568

Proteomic databases

EPDiQ13148
MaxQBiQ13148
PaxDbiQ13148
PeptideAtlasiQ13148
PRIDEiQ13148
ProteomicsDBi59189

Protocols and materials databases

DNASUi23435
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi23435
DisGeNETi23435
EuPathDBiHostDB:ENSG00000120948.15
GeneCardsiTARDBP
GeneReviewsiTARDBP
HGNCiHGNC:11571 TARDBP
HPAiCAB003703
HPA017284
MalaCardsiTARDBP
MIMi605078 gene
612069 phenotype
neXtProtiNX_Q13148
OpenTargetsiENSG00000120948
Orphaneti803 Amyotrophic lateral sclerosis
275872 Frontotemporal dementia with motor neuron disease
PharmGKBiPA36336
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFJS Eukaryota
ENOG410ZYQJ LUCA
GeneTreeiENSGT00900000140835
HOGENOMiHOG000254792
HOVERGENiHBG058671
InParanoidiQ13148
OMAiFCEIKRK
OrthoDBiEOG091G0BJZ
PhylomeDBiQ13148
TreeFamiTF315657

Miscellaneous databases

ChiTaRSiTARDBP human
EvolutionaryTraceiQ13148
GeneWikiiTARDBP
GenomeRNAii23435
PROiPR:Q13148
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120948 Expressed in 233 organ(s), highest expression level in female gonad
CleanExiHS_TARDBP
ExpressionAtlasiQ13148 baseline and differential
GenevisibleiQ13148 HS

Family and domain databases

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

Entry informationi

Entry nameiTADBP_HUMAN
AccessioniPrimary (citable) accession number: Q13148
Secondary accession number(s): A4GUK4
, A4GUK5, A4GUK6, B2R629, B4DJ45, E2PU12, Q53H27, Q6FI92, Q96DJ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 201 of the entry and version 1 of the sequence. See 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
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