TOR1A Human Gene by

TOR1A Human Gene by https://padlet.com/aleksandra_szczech/xj69o9wu2s37 Torsin Family 1 Member A gene is a member of the AAA family of adenosine triphosphatases. TOR1A is protein-coding gene type. en-us 2019-04-08 09:50:08 UTC 2026-01-26 20:44:52 UTC hello@padlet.com TOR1A and Protein Function aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360294471 Torsin Family 1 Member A gene is a member of the AAA family of adenosine triphosphatases. TOR1A is protein-coding gene type. The main function of torsin-1A protein is to control protein folding, protein processing their stability and localization. They taking part in the reduction of misfolded protein aggregates. TOR1A proteins regulates the recycling process of a synaptic vesicle, managing the stability of STON2 proteins which work out together with the COP9 signalosome complex. Torsin - 1A helps to control nuclear polarity by the connection of cytoskeleton together with the nuclear envelope. That mechanism is also important in cell movement especially for neurons and for nuclear envelope integrity. Proteins take part in the regulation of the subcellular location of multipass protein membrane, for example, SLC6A3 dopamine transporter. That regulation of SLC6A3 can lead to modulation of dopamine neurotransmission. Ubiquitous gene expression is found in thyroid (RPKM 14.8), urinary bladder (RPKM 12.7) and 25 other tissues. Torsin - 1A in the endoplasmic reticulum verify the quality of protein assembly to reduce the number of misfolded proteins. Alternative splicing for a gene TOR1A is gene TOR1B. ]]> 2019-05-15 12:11:59 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360294471 aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360295475 Gene:TOR1A

Full gene name:torsin family 1 member A

Also known as: DQ2 or DYT1

Species:Homo sapiens

Genomic Locations for TOR1A Gene:

· chr9:129,812,942-129,824,245 (GRCh38/hg38)

· Size:11,304 bases

· Orientation: Minus strand

· chr9:132,575,221-132,586,441 (GRCh37/hg19)

· Size:11,221 bases

· Orientation: Minus strand

Chromosomal location:9q34.11

Chromosome 9 - NC_000009.12

Figure 1 shows chromosomal location. (Blast.ncbi.nlm.nih.gov, 2018)

Number of exon:5

Molecular mass: 37,813 Da

Gene type:Protein coding

Accession Number for the mRNA sequence: NM_000113, NM_000113.3

Accession number for the protein sequence: NP_000104

Size of mRNA transcript: 2080 bp

Size of the protein: 332 amino acid

]]> 2019-05-15 12:15:10 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360295475 Gene TOR1A is expressed in 27 different tissues but it is mostly expressed in the thyroid glands and the urinary bladder. aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360296114 2019-05-15 12:17:10 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360296114 aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360296425 Disease:

Diseases which are caused by mutation of TOR1A are Dystonia 1, Torsion, Autosomal Dominant and Dyt-Tor1a. Dystonia 1 is a neurological condition causing involuntary muscle movements, such as contractions and painful spasms. It is a very rare condition which can affect the whole body, even lead to disability. First symptoms started in childhood and get worse with patient age. Neuroradiologic studies on DYT1 mutation carriers exhibit mild abnormalities in motor behaviour. Brain functioning shows an innate compensation for mild striatal dysfunction.

]]> 2019-05-15 12:18:20 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360296425 Multiple sequences alignment aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360300626 2019-05-15 12:30:19 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360300626 Prediction sequence for peptide and the coding sequence TOR1A gene. aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360301123 2019-05-15 12:32:05 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360301123 Table shows the first 3 BLAST hits of animal nucleotide sequences – excluded Homo sapiens. aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360305767 | Animal | Identity | Query cover | Accession no:
| Gorilla | 99% | 98.94% | XM_004048724.2
| Pan troglodytes, Chimpanzees | 99% | 98.80% | XM_001164380.4
| Pongo abelii, Sumatran orangutan | 99% | 98.27% | XM_002820298.4]]> 2019-05-15 12:44:16 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360305767 Table shows the top 3 BLAST hits of nucleotide sequence excluding primates aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360306243 | Animal | Identity | Query cover | Accession no:
| Neomonachus schauinslandi, Hawaiian monk seal | 68% | 86.50% | XM_021691703.1
| Eumetopias jubatus, Steller sea lion | 68% | 86.48% | XM_028090559.1
| Loxodonta Africana, African bush elephant | 72% | 85.49% | XM_003407606.3]]> 2019-05-15 12:45:31 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360306243 Table shows the top 3 BLAST hits of nucleotide sequence excluding mammals. aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360306833 | Animal | Identity | Query cover | Accession no:
| Ornithorhynchus anatinus, Platypus | 48% | 80.37% | XM_001508576.3
| Pelodiscus sinensis, Chinese softshell turtle | 46% | 78.09% | XM_006128339.3
| Crocodylus porosus, Saltwater crocodile | 46% | 74.95% | XM_019540775.1]]> 2019-05-15 12:46:59 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360306833 Table shows BLASTp hits of protein sequences aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360307330 | Animal | Identity | Query cover | Accession no:
| Pan troglodytes, Chimpanzee | 100% | 99.70% | XP_001164380.2
| Pongo abelii, Sumatran orangutan | 100% | 99.10% | XP_002820344.1
| Nomascus leucogenys, Northern white-cheeked gibbon | 100% | 98.80% | XP_003264290.1]]> 2019-05-15 12:48:11 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360307330 Table shows BLASTp hits of protein sequences - excluding primates. aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360307841 | Animal | Identity | Query cover | Accession no:
| Galeopterus variegatus, Sunda flying lemur | 100% | 93.99% | XP_008577089.1
| Elephantulus edwardii, Cape elephant shrew | 100% | 92.79% | XP_006892526.1
| Pteropus vampyrus, Large flying fox | 100% | 92.77% | XP_011362433.1]]> 2019-05-15 12:49:21 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360307841 Table shows BLASTp hits of protein sequence – excluding mammals. aleksandra_szczech https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360308336 | Animal | Identity | Query cover | Accession no:
| Pelodiscus sinensis, Chinese softshell turtle | 95% | 76.71% | XP_006128401.1
| Terrapene mexicana triunguis, Mexican box turtle | 95% | 76.32% | XP_024048785.1
| Chrysemys picta bellii, Painted turtle | 95% | 76.32% | XP_008167416.1]]> 2019-05-15 12:50:30 UTC https://padlet.com/aleksandra_szczech/xj69o9wu2s37/wish/360308336