Torsin A Interacting Protein 2 (TOR1AIP2)

LULL1; NET9; IFRG15; Lumenal domain-like LAP1; Torsin-1A-interacting protein 2

SPN	H885
HGNC	24055
MGI	3582695
PubMed	23569223
RGD	735059
UniProt	Q8NFQ8

TorsinA is the causative protein in early onset torsion dystonia, also known as DYT1 dystonia or Oppenheim’s Disease. The disease is characterized by severe and generalized abnormalities in motor control that typically begin during childhood. A candidate-based screen to determine whether any of a set of known NE proteins associate with torsinA uncovered an interaction with the inner nuclear membrane protein LAP1 (also known as TOR1AIP1) and a related protein in the ER, LULL1 (also known as TOR1AIP2 or NET9).

The related transmembrane proteins and LAP1 are prominent binding partners for torsinA in U2OS cells.Impaired interaction of torsinA with LULL1 and/or LAP1 may thus contribute to the development of dystonia.

Reference

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein."
J. Cell Biol. 168:855-862(2005) [PubMed] [Europe PMC] [Abstract]

"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation."
Mol. Biol. Cell 20:2661-2672(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

"Regulation of Torsin ATPases by LAP1 and LULL1."
Proc. Natl. Acad. Sci. U.S.A. 110:E1545-1554(2013) [PubMed] [Europe PMC] [Abstract]

"Arresting a Torsin ATPase reshapes the endoplasmic reticulum."
J. Biol. Chem. 289:552-564(2014) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]