Gene name:
TARDBP (TDP43) ;
Protein name:
TAR DNA-binding protein 43 (TDP-43) ;
Alternative:
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Homodimer (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.
Function:
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.
Subcellular Location:
Nucleus
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.
Protein Attributes:
50:
MSEYIRVTED | ENDEPIEIPS | EDDGTVLLST | VTAQFPGACG | LRYRNPVSQC |
100:
MRGVRLVEGI | LHAPDAGWGN | LVYVVNYPKD | NKRKMDETDA | SSAVKVKRAV |
150:
QKTSDLIVLG | LPWKTTEQDL | KEYFSTFGEV | LMVQVKKDLK | TGHSKGFGFV |
200:
RFTEYETQVK | VMSQRHMIDG | RWCDCKLPNS | KQSQDEPLRS | RKVFVGRCTE |
250:
DMTEDELREF | FSQYGDVMDV | FIPKPFRAFA | FVTFADDQIA | QSLCGEDLII |
300:
KGISVHISNA | EPKHNSNRQL | ERSGRFGGNP | GGFGNQGGFG | NSRGGGAGLG |
350:
NNQGSNMGGG | MNFGAFSINP | AMMAAAQAAL | QSSWGMMGML | ASQQNQSGPS |
400:
GNNQNQGNMQ | REPNQAFGSG | NNSYSGSNSG | AAIGWGSASN | AGSGSGFNGG |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Chicken
Human
Mouse
ELISA Kit for Human TDP-43
ELISA Kit for Human TDP-43
ELISA Kit for Human TDP-43
CLIA Kit for Human TDP-43
CLIA Kit for Human TDP-43
CLIA Kit for Human TDP-43
Polyclonal Antibody for Human TDP-43
Polyclonal Antibody for Human TDP-43
Polyclonal Antibody for Human TDP-43
Monoclonal Antibody for Human TDP-43
Monoclonal Antibody for Human TDP-43
Monoclonal Antibody for Human TDP-43
R&D Technical Data
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Precision
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Recovery
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Linearity
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Citations
[1].
Goossens J, Vanmechelen E, Trojanowski J Q, et al.
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
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Liver .
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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Nature466:1069-1075(2010)
[
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[
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Cited for : INTERACTION WITH ATNX2;CHARACTERIZATION OF VARIANT ALS10 LYS-331
17.
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Cited for : IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
18.
"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P.
,
Lasa M.
,
Polevoda B.
,
Gazquez C.
,
Elosegui-Artola A.
,
Kim D.S.
,
De Juan-Pardo E.
,
Demeyer K.
,
Hole K.
,
Larrea E.
,
Timmerman E.
,
Prieto J.
,
Arnesen T.
,
Sherman F.
,
Gevaert K.
,
Aldabe R.
Proc. Natl. Acad. Sci. U.S.A.109:12449-12454(2012)
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Cited for : IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
19.
"Mutations in the matrin 3 gene cause familial amyotrophic lateral sclerosis."
Johnson J.O.
,
Pioro E.P.
,
Boehringer A.
,
Chia R.
,
Feit H.
,
Renton A.E.
,
Pliner H.A.
,
Abramzon Y.
,
Marangi G.
,
Winborn B.J.
,
Gibbs J.R.
,
Nalls M.A.
,
Morgan S.
,
Shoai M.
,
Hardy J.
,
Pittman A.
,
Orrell R.W.
,
Malaspina A.
,
Sidle K.C.
,
Fratta P.
,
Harms M.B.
,
Baloh R.H.
,
Pestronk A.
,
Weihl C.C.
,
Rogaeva E.
,
Zinman L.
,
Drory V.E.
,
Borghero G.
,
Mora G.
,
Calvo A.
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Rothstein J.D.
,
Drepper C.
,
Sendtner M.
,
Singleton A.B.
,
Taylor J.P.
,
Cookson M.R.
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Restagno G.
,
Sabatelli M.
,
Bowser R.
,
Chio A.
,
Traynor B.J.
more...
Nat. Neurosci.17:664-666(2014)
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Cited for : INTERACTION WITH MATR3
20.
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Cited for : STRUCTURE BY NMR OF 96-267
21.
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Cited for : STRUCTURE BY NMR OF 193-267
22.
"TDP-43 A315T mutation in familial motor neuron disease."
Gitcho M.A.
,
Baloh R.H.
,
Chakraverty S.
,
Mayo K.
,
Norton J.B.
,
Levitch D.
,
Hatanpaa K.J.
,
White C.L. III
,
Bigio E.H.
,
Caselli R.
,
Baker M.
,
Al-Lozi M.T.
,
Morris J.C.
,
Pestronk A.
,
Rademakers R.
,
Goate A.M.
,
Cairns N.J.
Ann. Neurol.63:535-538(2008)
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Cited for : VARIANT ALS10 THR-315
23.
"TDP-43 mutation in familial amyotrophic lateral sclerosis."
Yokoseki A.
,
Shiga A.
,
Tan C.F.
,
Tagawa A.
,
Kaneko H.
,
Koyama A.
,
Eguchi H.
,
Tsujino A.
,
Ikeuchi T.
,
Kakita A.
,
Okamoto K.
,
Nishizawa M.
,
Takahashi H.
,
Onodera O.
Ann. Neurol.63:538-542(2008)
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Cited for : VARIANT ALS10 ARG-343
24.
"TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis."
Van Deerlin V.M.
,
Leverenz J.B.
,
Bekris L.M.
,
Bird T.D.
,
Yuan W.
,
Elman L.B.
,
Clay D.
,
Wood E.M.
,
Chen-Plotkin A.S.
,
Martinez-Lage M.
,
Steinbart E.
,
McCluskey L.
,
Grossman M.
,
Neumann M.
,
Wu I.-L.
,
Yang W.-S.
,
Kalb R.
,
Galasko D.R.
,
Montine T.J.
,
Trojanowski J.Q.
,
Lee V.M.-Y.
,
Schellenberg G.D.
,
Yu C.-E.
more...
Lancet Neurol.7:409-416(2008)
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Cited for : VARIANTS ALS10 ALA-290 AND SER-298
25.
"TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis."
Kabashi E.
,
Valdmanis P.N.
,
Dion P.
,
Spiegelman D.
,
McConkey B.J.
,
Vande Velde C.
,
Bouchard J.-P.
,
Lacomblez L.
,
Pochigaeva K.
,
Salachas F.
,
Pradat P.-F.
,
Camu W.
,
Meininger V.
,
Dupre N.
,
Rouleau G.A.
Nat. Genet.40:572-574(2008)
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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.
"TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis."
Sreedharan J.
,
Blair I.P.
,
Tripathi V.B.
,
Hu X.
,
Vance C.
,
Rogelj B.
,
Ackerley S.
,
Durnall J.C.
,
Williams K.L.
,
Buratti E.
,
Baralle F.
,
de Belleroche J.
,
Mitchell J.D.
,
Leigh P.N.
,
Al-Chalabi A.
,
Miller C.C.
,
Nicholson G.
,
Shaw C.E.
Science319:1668-1672(2008)
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Cited for : VARIANTS ALS10 ALA-294; LYS-331 AND VAL-337;VARIANT VAL-90;CHARACTERIZATION OF VARIANTS ALS10 LYS-331 AND VAL-337
27.
"TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration."
French clinical and genetic research network on frontotemporal lobar degeneration/frontotemporal lobar degeneration with motoneuron disease
,
Benajiba L.
,
Le Ber I.
,
Camuzat A.
,
Lacoste M.
,
Thomas-Anterion C.
,
Couratier P.
,
Legallic S.
,
Salachas F.
,
Hannequin D.
,
Decousus M.
,
Lacomblez L.
,
Guedj E.
,
Golfier V.
,
Camu W.
,
Dubois B.
,
Campion D.
,
Meininger V.
,
Brice A.
more...
Ann. Neurol.65:470-473(2009)
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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)
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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)
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Cited for : INVOLVEMENT OF VARIANT ALS10 SER-267 IN FRONTOTEMPORAL DEMENTIA
30.
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Cited for : VARIANT ALS10 ALA-294
31.
"Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene."
Chio A.
,
Borghero G.
,
Pugliatti M.
,
Ticca A.
,
Calvo A.
,
Moglia C.
,
Mutani R.
,
Brunetti M.
,
Ossola I.
,
Marrosu M.G.
,
Murru M.R.
,
Floris G.
,
Cannas A.
,
Parish L.D.
,
Cossu P.
,
Abramzon Y.
,
Johnson J.O.
,
Nalls M.A.
,
Arepalli S.
,
Chong S.
,
Hernandez D.G.
,
Traynor B.J.
,
Restagno G.
more...
Arch. Neurol.68:594-598(2011)
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Cited for : VARIANT ALS10 THR-382
32.
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Cited for : VARIANT ALS10 THR-382
33.
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Cited for : VARIANT VAL-90;VARIANTS ALS10 ARG-357; THR-361 AND PRO-379