Property Summary

NCBI Gene PubMed Count 15
Grant Count 5
R01 Count 2
Funding $163,255.67
PubMed Score 112.52
PubTator Score 60.41

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession O14657
Symbols DQ1

Gene

PANTHER Protein Class (1)

Gene RIF (4)

PMID Text
24275647 the induction of a conditional, dominant-negative TorsinB variant provokes a profound reorganization of the endomembrane system into foci containing double membrane structures that are derived from the ER.
20669276 Observational study of gene-disease association. (HuGE Navigator)
17130424 Observational study of gene-disease association. (HuGE Navigator)
16938275 torsinB is needed for developmental events occurring in the early postnatal phase and is necessary for functional activity throughout life

AA Sequence

MLRAGWLRGAAALALLLAARVVAAFEPITVGLAIGAASAITGYLSYNDIYCRFAECCREERPLNASALKL      1 - 70
DLEEKLFGQHLATEVIFKALTGFRNNKNPKKPLTLSLHGWAGTGKNFVSQIVAENLHPKGLKSNFVHLFV     71 - 140
STLHFPHEQKIKLYQDQLQKWIRGNVSACANSVFIFDEMDKLHPGIIDAIKPFLDYYEQVDGVSYRKAIF    141 - 210
IFLSNAGGDLITKTALDFWRAGRKREDIQLKDLEPVLSVGVFNNKHSGLWHSGLIDKNLIDYFIPFLPLE    211 - 280
YRHVKMCVRAEMRARGSAIDEDIVTRVAEEMTFFPRDEKIYSDKGCKTVQSRLDFH                  281 - 336
//

Text Mined References (16)

PMID Year Title
24275647 2014 Arresting a Torsin ATPase reshapes the endoplasmic reticulum.
23569223 2013 Regulation of Torsin ATPases by LAP1 and LULL1.
21269460 2011 Initial characterization of the human central proteome.
20669276 2010 Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
20015956 2010 Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
17130424 2006 Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.
16938275 2006 TorsinB expression in the developing human brain.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
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