Property Summary

NCBI Gene PubMed Count 7
Grant Count 1
Funding $96,345
PubMed Score 1.59
PubTator Score 0.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
pancreatic cancer 1.600 0.039
posterior fossa group A ependymoma -2.100 0.000
oligodendroglioma -1.100 0.014
osteosarcoma -3.163 0.001
glioblastoma -1.600 0.018
medulloblastoma -2.100 0.000
tuberculosis and treatment for 6 months 2.300 0.000
interstitial cystitis 2.000 0.011
adult high grade glioma -1.700 0.016
pilocytic astrocytoma -1.700 0.001
non primary Sjogren syndrome sicca -1.400 0.009
pancreatic carcinoma 1.600 0.039
ovarian cancer 5.000 0.000

Synonym

Accession Q9P2G3 A6NNW1 B4DHA0 Q8WU41
Symbols

Gene

 Grant Application (1)

 GO Process (1)

Gene RIF (3)

PMID Text
23569223 TorsinA ATP hydrolysis is induced upon association with LAP1 and LULL1, type II transmembrane proteins residing in the nuclear envelope and endoplasmic reticulum.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19535332 Printor is a torsinA-interacting protein implicated in dystonia pathogenesis

AA Sequence

MSRSGDRTSTFDPSHSDNLLHGLNLLWRKQLFCDVTLTAQGQQFHCHKAVLASCSQYFRSLFSSHPPLGG      1 - 70
GVGGQDGLGAPKDQQQPPQQQPSQQQQPPPQEEPGTPSSSPDDKLLTSPRAINNLVLQGCSSIGLRLVLE     71 - 140
YLYTANVTLSLDTVEEVLSVSKILHIPQVTKLCVQFLNDQISVQNYKQVCKIAALHGLEETKKLANKYLV    141 - 210
EDVLLLNFEEMRALLDSLPPPVESELALFQMSVLWLEHDRETRMQYAPDLMKRLRFALIPAPELVERVQS    211 - 280
VDFMRTDPVCQKLLLDAMNYHLMPFRQHCRQSLASRIRSNKKMLLLVGGLPPGPDRLPSNLVQYYDDEKK    281 - 350
TWKILTIMPYNSAHHCVVEVENFLFVLGGEDQWNPNGKHSTNFVSRYDPRFNSWIQLPPMQERRASFYAC    351 - 420
RLDKHLYVIGGRNETGYLSSVECYNLETNEWRYVSSLPQPLAAHAGAVHNGKIYISGGVHNGEYVPWLYC    421 - 490
YDPVMDVWARKQDMNTKRAIHTLAVMNDRLYAIGGNHLKGFSHLDVMLVECYDPKGDQWNILQTPILEGR    491 - 560
SGPGCAVLDDSIYLVGGYSWSMGAYKSSTICYCPEKGTWTELEGDVAEPLAGPACVTVILPSCVPYNK      561 - 628
//

Text Mined References (10)

PMID Year Title
25189415 2015 The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing.
23676014 2013 Update on the Kelch-like (KLHL) gene family.
23569223 2013 Regulation of Torsin ATPases by LAP1 and LULL1.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19535332 2009 Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis.
16177791 2005 DNA sequence and analysis of human chromosome 18.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10718198 2000 Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.