TOR1AIP1

TOR1AIP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4TVS
Identifiers
Aliases	TOR1AIP1 , LAP1, LAP1B, torsin 1A interacting protein 1, LGMD2Y, LAP1C
External IDs	OMIM: 614512; MGI: 3582693; HomoloGene: 9208; GeneCards: TOR1AIP1; OMA:TOR1AIP1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q25.2 Start 179,882,042 bp [1] End 179,920,077 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 G3 Start 155,880,345 bp [2] End 155,912,226 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus urethra Achilles tendon Skeletal muscle tissue of rectus abdominis tail of epididymis caput epididymis decidua corpus epididymis germinal epithelium parietal pleura Top expressed in spermatid seminiferous tubule muscle of thigh triceps brachii muscle granulocyte ankle myocardium of ventricle extraocular muscle mesenteric lymph nodes digastric muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cytoskeletal protein binding ATPase binding ATPase activator activity protein binding lamin binding Cellular component integral component of membrane nuclear inner membrane nuclear envelope membrane nucleus nuclear membrane Biological process positive regulation of ATP-dependent activity nuclear membrane organization protein localization to nucleus protein localization to nuclear envelope Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26092 208263 Ensembl ENSG00000143337 ENSMUSG00000026466 UniProt Q5JTV8 Q921T2 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 NP_001392364 NP_001392365 NP_001392366 NP_001392367 Location (UCSC) Chr 1: 179.88 – 179.92 Mb Chr 1: 155.88 – 155.91 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000143337 – Ensembl, May 2017
2. 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

• Foisner R, Gerace L (1993). "Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation". Cell. 73 (7): 1267–79. doi: 10.1016/0092-8674(93)90355-T . PMID   8324822.
• Maison C, Pyrpasopoulou A, Theodoropoulos PA, Georgatos SD (1997). "The inner nuclear membrane protein LAP1 forms a native complex with B-type lamins and partitions with spindle-associated mitotic vesicles". EMBO J. 16 (16): 4839–50. doi:10.1093/emboj/16.16.4839. PMC   1170119 . PMID   9305626.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi: 10.1038/nature04727 . PMID   16710414.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.