TOR1AIP1

From Wikipedia, the free encyclopedia
TOR1AIP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTOR1AIP1, LAP1, LAP1B, torsin 1A interacting protein 1, LGMD2Y, LAP1C
External IDsOMIM: 614512 MGI: 3582693 HomoloGene: 9208 GeneCards: TOR1AIP1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001267578
NM_015602
NM_032678

NM_001160018
NM_001160019
NM_144791

RefSeq (protein)

NP_001254507
NP_056417

NP_001153490
NP_001153491
NP_659040

Location (UCSC)Chr 1: 179.88 – 179.92 MbChr 1: 155.88 – 155.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Torsin-1A-interacting protein 1 is a protein that in humans is encoded by the TOR1AIP1 gene.[5][6][7] More commonly known as lamina associated polypeptide 1 (LAP1), it is a type II integral membrane protein that resides in the inner nuclear membrane. The luminal domain of LAP1 interacts with Torsin A and is necessary for the ATPase activity of Torsin A. LAP1 plays a critical role in skeletal and heart muscle.[8][9] Mutations in TOR1AIP1 have been linked to muscular dystrophy and cardiomyopathy.[10][11] It's deletion from mouse hepatocytes leads to defected very-low density lipoprotein secretion and causes non-alcoholic fatty liver disease and non-alcoholic steatohepatitis[12]

References[]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143337 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026466 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kondo Y, Kondoh J, Hayashi D, Ban T, Takagi M, Kamei Y, Tsuji L, Kim J, Yoneda Y (Jun 2002). "Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants". Biochem Biophys Res Commun. 294 (4): 770–8. doi:10.1016/S0006-291X(02)00563-6. PMID 12061773.
  6. ^ Goodchild RE, Dauer WT (Mar 2005). "The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein". J Cell Biol. 168 (6): 855–62. doi:10.1083/jcb.200411026. PMC 2171781. PMID 15767459.
  7. ^ "Entrez Gene: TOR1AIP1 torsin A interacting protein 1".
  8. ^ Shin JY, Méndez-López I, Wang Y, Hays AP, Tanji K, Lefkowitch JH, Schulze PC, Worman HJ, Dauer WT. (2013) Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance. Dev Cell. 26:591-603. doi: 10.1016/j.devcel.2013.08.012.
  9. ^ Shin JY, Le Dour C, Sera F, Iwata S, Homma S, Joseph LC, Morrow JP, Dauer WT, Worman HJ. (2014) Depletion of lamina-associated polypeptide 1 from cardiomyocytes causes cardiac dysfunction in mice. Nucleus. 5:260-459. doi: 10.4161/nucl.29227.
  10. ^ Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I, Sharafi P, Gundesli H, Balci-Hayta B, Purali N, Serdaroglu-Oflazer P, Topaloglu H, Dincer P. (2014) Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromuscul Disord. 24:624-33. doi: 10.1016/j.nmd.2014.04.007
  11. ^ Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST. (2016) TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. Neuromuscul Disord. 26:500-503. doi: 10.1016/j.nmd.2016.05.013.
  12. ^ Shin JY, Hernandez-Ono A, Fedotova T, Östlund C, Lee MJ, Gibeley SB, Liang CC, Dauer WT, Ginsberg HN, Worman HJ. (2019) Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis. J Clin Invest. 130:4885-4900. doi: 10.1172/JCI129769.

Further reading[]


Retrieved from ""