| Gene Symbol |
TARDBP
|
| Entrez Gene |
23435
|
| Alt Symbol |
ALS10, TDP-43
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
TAR DNA binding protein
|
| Other Description |
TAR DNA-binding protein 43|TAR DNA-binding protein-43
|
| Swissprots |
E2PU12 A4GUK4 Q13148 B4DJ45 Q6FI92 Q53H27 A4GUK5 Q96DJ0 A4GUK6 B2R629
|
| Accessions |
CBF67564 CBI68017 CBU92437 EAW71669 EAW71670 EAW71671 EAW71672 EAW71673 Q13148 AF311304 AAG47782 AK222754 BAD96474 AK295920 BAG58707 AK299454 BAG61425 AK312416 BAG35326 AL045296 AL050265 CAB43367 AM392916 CAL37794 BC001487 BC059955 BC071657 AAH71657 BC095435 AAH95435 BI464234 BM716882 CD703666 CR533534 CAG38565 EF434181 ABO32290 EF434182 ABO32291 EF434183 ABO32292 EU446942 ABZ92471 HQ628633 AER93383 HQ628634 AER93384 HQ628635 AER93385 HQ628636 AER93386 HQ628637 AER93387 U23731 AAA70033 XR_946596 XR_946597 NM_007375 NP_031401
|
| 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. {ECO:0000269|PubMed:11285240, ECO:0000269|PubMed:17481916}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:17023659, ECO:0000269|PubMed:17481916}. 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.
|