TADBP_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
TARDBP
, TDP43
Protein names and data:
TADBP_HUMAN
, TAR DNA-binding protein 43; TDP-43
Lenght: 414 a.a.
Mass: 44740 Da
fasta formatted sequence
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.
Disease:
( OMIM:
605078
612069
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Nucleus. 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.
Tissue specificity:
Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.
Genetic variants
90 - 90
A -> V (in dbSNP:rs80356715). VAR_045656
80356715
169 - 169
D -> G (in ALS10; dbSNP:rs80356717). VAR_045657
80356717
267 - 267
N -> S (in ALS10; also in a patient with frontotemporal dementia; dbSNP:rs80356718). VAR_058611
80356718
287 - 287
G -> S (in ALS10; dbSNP:rs80356719). VAR_045658
80356719
290 - 290
G -> A (in ALS10; dbSNP:rs121908395). VAR_045659
121908395
294 - 294
G -> A (in ALS10; dbSNP:rs80356721). VAR_045660
80356721
294 - 294
G -> V (in ALS10; a patient with bulbar signs and dementia). VAR_058612
295 - 295
G -> R (in ALS10; dbSNP:rs80356723). VAR_058613
80356723
295 - 295
G -> S (in ALS10; also in patients with frontotemporal lobar degeneration with motor neuron disease; dbSNP:rs80356723). VAR_058614
80356723
298 - 298
G -> S (in ALS10; dbSNP:rs4884357). VAR_045661
4884357
315 - 315
A -> T (in ALS10; dbSNP:rs80356726). VAR_045662
80356726
331 - 331
Q -> 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; dbSNP:rs80356727). VAR_045663
80356727
332 - 332
S -> N (in ALS10; dbSNP:rs80356728). VAR_058615
80356728
335 - 335
G -> D (in ALS10; dbSNP:rs80356729). VAR_058616
80356729
337 - 337
M -> V (in ALS10; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos; dbSNP:rs80356730). VAR_045664
80356730
343 - 343
Q -> R (in ALS10; dbSNP:rs80356731). VAR_062767
80356731
348 - 348
G -> C (in ALS10; dbSNP:rs80356733). VAR_045665
80356733
357 - 357
G -> R (in ALS10). VAR_067499
361 - 361
R -> S (in ALS10; dbSNP:rs80356735). VAR_045666
80356735
361 - 361
R -> T (in ALS10). VAR_067500
379 - 379
S -> C (in ALS10; dbSNP:rs80356739). VAR_058617
80356739
379 - 379
S -> P (in ALS10; dbSNP:rs80356738). VAR_058618
80356738
382 - 382
A -> T (in ALS10; dbSNP:rs11689432). VAR_045667
11689432
390 - 390
N -> D (in ALS10; dbSNP:rs80356741). VAR_045668
80356741
390 - 390
N -> S (in ALS10; dbSNP:rs80356742). VAR_045669
80356742
393 - 393
S -> L (in ALS10; dbSNP:rs80356743). VAR_058619
80356743
Database cross-references
UniProt:
Q13148
Ensembl:
ENST00000240185
MIM:
605078
MIM:
612069
neXtProt:
NX_Q13148
Antibodypedia:
Q13148
(may not find the protein thus also not any antibody)
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