TOR1AIP1

TOR1AIP1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	4TVS
Identifikatori
Aliasi	TOR1AIP1
Vanjski ID-jevi	OMIM: 614512 MGI: 3582693 HomoloGene: 9208 GeneCards: TOR1AIP1
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	179,920,077 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	155,912,226 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• cytoskeletal protein binding; • ATPase binding; • ATPase activator activity; • GO:0001948, GO:0016582 vezivanje za proteine; • lamin binding;
Ćelijska komponenta	• integral component of membrane; • nuclear inner membrane; • nuclear envelope; • membrana; • jedro; • Jedarna membrana;
Biološki proces	• positive regulation of ATP-dependent activity; • nuclear membrane organization; • protein localization to nucleus; • protein localization to nuclear envelope;
	Izvori:Amigo / QuickGO
Ortolozi
	26092
	208263
	ENSG00000143337
	ENSMUSG00000026466
	Q5JTV8
	Q921T2
	NM_001267578; NM_015602; NM_032678
	NM_001160018; NM_001160019; NM_144791
	NP_001254507; NP_056417
NP_001153490; NP_001153491; NP_659040; NP_001392364; NP_001392365;
	NP_001392366; NP_001392367
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Torzin-1A-interaktivni protein 1 jest protein koji je kod ljudi kodiran genom TOR1AIP1 sa hromosoma 1.^[5]^[6]^[7]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 583 aminokiseline, a molekulska težina 66.248 Da.^[8]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MAGDGRRAEA	VREGWGVYVT	PRAPIREGRG	RLAPQNGGSS	DAPAYRTPPS
RQGRREVRFS	DEPPEVYGDF	EPLVAKERSP	VGKRTRLEEF	RSDSAKEEVR
ESAYYLRSRQ	RRQPRPQETE	EMKTRRTTRL	QQQHSEQPPL	QPSPVMTRRG
LRDSHSSEED	EASSQTDLSQ	TISKKTVRSI	QEAPVSEDLV	IRLRRPPLRY
PRYEATSVQQ	KVNFSEEGET	EEDDQDSSHS	SVTTVKARSR	DSDESGDKTT
RSSSQYIESF	WQSSQSQNFT	AHDKQPSVLS	SGYQKTPQEW	APQTARIRTR
MQNDSILKSE	LGNQSPSTSS	RQVTGQPQNA	SFVKRNRWWL	LPLIAALASG
SFWFFSTPEV	ETTAVQEFQN	QMNQLKNKYQ	GQDEKLWKRS	QTFLEKHLNS
SHPRSQPAIL	LLTAARDAEE	ALRCLSEQIA	DAYSSFRSVR	AIRIDGTDKA
TQDSDTVKLE	VDQELSNGFK	NGQNAAVVHR	FESFPAGSTL	IFYKYCDHEN
AAFKDVALVL	TVLLEEETLG	TSLGLKEVEE	KVRDFLKVKF	TNSNTPNSYN
HMDPDKLNGL	WSRISHLVLP	VQPENALKRG	ICL

Funkcija[uredi | uredi izvor]

Ovaj proteim poznatiji je kao polipeptid 1 vwzan sa laminom (LAP1), tip II integralnih membranskih proteina koji se nalazi u unutrašnjoj jedarnoj membrani. Lumenski domen LAP1 je u interakciji sa torzinom-A i neophodan je za aktivnost ATPaznog torzina A. LAP1 ima ključnu ulogu u skeletnim i srčanom mišiću.^[9]^[10] Mutacije u TOR1AIP1 povezane su sa mišićnom distrofijom i kardiomiopatijom.^[11]^[12] Njegova delecija u mišjim hepatocitima uzrokuje pojavu lučenja defektnih lipoproteina vrlo niske gustoće, što izaziva poremećaje zvane bolest nealkohplna masna jetra i nealkoholni steatohepatitis^[13]

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000143337 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026466 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: TOR1AIP1 torsin A interacting protein 1".
^ "UniProt, Q5JTV8" (jezik: engleski). Pristupljeno 15. 12. 2021.
^ 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.
^ 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.
^ 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
^ 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.
^ 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.

Dopunska literatura[uredi | uredi izvor]

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. 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143337 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026466 - Ensembl, maj 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.

[pmid12061773-5] 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.

[pmid15767459-6] 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.

[entrez-7] "Entrez Gene: TOR1AIP1 torsin A interacting protein 1".

[UniProt-8] "UniProt, Q5JTV8" (jezik: engleski). Pristupljeno 15. 12. 2021.

[9] 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.

[10] 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.

[11] 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

[12] 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.

[13] 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.

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