SNCAIP

SNCAIP
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2KES
Identifikatori
Aliasi	SNCAIP
Vanjski ID-jevi	OMIM: 603779 MGI: 1915097 HomoloGene: 3987 GeneCards: SNCAIP
Lokacija gena (čovjek)
Hrom.	Hromosom 5 (čovjek)
Kraj	122,464,219 bp
Lokacija gena (miš)
Hrom.	Hromosom 18 (miš)
Kraj	53,049,007 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • ubiquitin protein ligase binding; • vezivanje identičnih proteina;
Ćelijska komponenta	• citoplazma; • citosol; • soma; • presynaptic membrane; • Sinapsna vezikula; • nukleoplazma; • cytoplasmic ribonucleoprotein granule;
Biološki proces	• regulation of inclusion body assembly; • dopamine metabolic process; • Ćelijska smrt; • regulation of neurotransmitter secretion;
	Izvori:Amigo / QuickGO
Ortolozi
	9627
	67847
	ENSG00000064692
	ENSMUSG00000024534
	Q9Y6H5
	Q99ME3
NM_001242935; NM_001308100; NM_001308105; NM_001308106; NM_001308107;
	NM_001308108; NM_001308109; NM_005460
	NM_001199151; NM_001199153; NM_001199154; NM_026408
NP_001229864; NP_001295029; NP_001295034; NP_001295035; NP_001295036;
	NP_001295037; NP_001295038; NP_005451
NP_001186080; NP_001186082; NP_001186083; NP_080684; NP_001390575;
	NP_001390576; NP_001390577
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Sinfilin-1 jest protein koji je kod ljudi kodiran genom SNCAIP sa hromosoma 5.^[5]^[6] SNCAIP označava "sinuklein, protein s interakcijom alfa" i može se označiti sa sinfilin 1, sinuklein, protein s interakcijom alfa (sinfilin) i SYPH1.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 919 aminokiselina, а molekulska težina Da. 100.409^[7]

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
MEAPEYLDLD	EIDFSDDISY	SVTSLKTIPE	LCRRCDTQNE	DRSVSSSSWN
CGISTLITNT	QKPTGIADVY	SKFRPVKRVS	PLKHQPETLE	NNESDDQKNQ
KVVEYQKGGE	SDLGPQPQEL	GPGDGVGGPP	GKSSEPSTSL	GELEHYDLDM
DEILDVPYIK	SSQQLASFTK	VTSEKRILGL	CTTINGLSGK	ACSTGSSESS
SSNMAPFCVL	SPVKSPHLRK	ASAVIHDQHK	LSTEETEISP	PLVKCGSAYE
PENQSKDFLN	KTFSDPHGRK	VEKTTPDCQL	RAFHLQSSAA	ESKPEEQVSG
LNRTSSQGPE	ERSEYLKKVK	SILNIVKEGQ	ISLLPHLAAD	NLDKIHDENG
NNLLHIAASQ	GHAECLQHLT	SLMGEDCLNE	RNTEKLTPAG	LAIKNGQLEC
VRWMVSETEA	IAELSCSKDF	PSLIHYAGCY	GQEKILLWLL	QFMQEQGISL
DEVDQDGNSA	VHVASQHGYL	GCIQTLVEYG	ANVTMQNHAG	EKPSQSAERQ
GHTLCSRYLV	VVETCMSLAS	QVVKLTKQLK	EQTVERVTLQ	NQLQQFLEAQ
KSEGKSLPSS	PSSPSSPASR	KSQWKSPDAD	DDSVAKSKPG	VQEGIQVLGS
LSASSRARPK	AKDEDSDKIL	RQLLGKEISE	NVCTQEKLSL	EFQDAQASSR
NSKKIPLEKR	ELKLARLRQL	MQRSLSESDT	DSNNSEDPKT	TPVRKADRPR
PQPIVESVES	MDSAESLHLM	IKKHTLASGG	RRFPFSIKAS	KSLDGHSPSP
TSESSEPDLE	SQYPGSGSIP	PNQPSGDPQQ	PSPDSTAAQK	VATSPKSALK
SPSSKRRTSQ	NLKLRVTFEE	PVVQMEQPSL	ELNGEKDKDK	GRTLQRTSTS
NESGDQLKRP	FGAFRSIMET	LSGNQNNNNN	YQAANQLKTS	TLPLTSLGRK
TDAKGNPASS	ASKGKNKAA

Funkcija

Ovaj gen kodira protein koji sadrži nekoliko interakcija protein-protein, uključujući ponavljanja slična ankirinu, motivu upredene zavojnice i motiv vezanja ATP/GTP. Kodirani protein stupa u interakciju s alfa-sinukleinskim neuronskim tkivom i može imati ulogu u stvaranju citoplazmatskih inkluzija i neurodegeneracija. Mutacija u ovom genu povezana je s Parkinsonovom bolešću. Opisane su alternativno prerađene varijante transkripta koje kodiraju različite izoforme ovog gena, ali njihova priroda u punoj dužini još nije utvrđena.^[6]

Gen SNCAIP daje upute za stvaranje proteina zvanog sinfilin-1 i nešto drugačiju verziju ovog proteina zvanu sinfilin-1A. Ovi proteini se proizvode u mozgu. Obično se nalaze u specijaliziranim strukturama zvanim presinapsni terminali, koji se nalaze na vrhovima živčanih ćelija. U živčanim ćelijama sinfilin-1 i sinfilin-1A stupaju u interakciju s drugim proteinom koji se naziva alfa-sinuklein. Međutim, funkcije sinfilina-1 i sinfilina-1A su nepoznate.

Interakcije

Pokazano je da SNCAIP ima interakcije sa:

Alfa-inukleinom^[5]^[8]^[9]^[10] i
Parkin ligazom.^[11]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000064692 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024534 - 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.
^ ^a ^b Engelender S, Kaminsky Z, Guo X, Sharp AH, Amaravi RK, Kleiderlein JJ, Margolis RL, Troncoso JC, Lanahan AA, Worley PF, Dawson VL, Dawson TM, Ross CA (maj 1999). "Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions". Nat Genet. 22 (1): 110–4. doi:10.1038/8820. PMID 10319874. S2CID 2611127.
^ ^a ^b "Entrez Gene: SNCAIP synuclein, alpha interacting protein (synphilin)".
^ "UniProt, Q9Y6H5" (jezik: engleski). Pristupljeno 20. 10. 2021.
^ Neystat M, Rzhetskaya M, Kholodilov N, Burke RE (juni 2002). "Analysis of synphilin-1 and synuclein interactions by yeast two-hybrid beta-galactosidase liquid assay". Neurosci. Lett. 325 (2): 119–23. doi:10.1016/s0304-3940(02)00253-7. PMID 12044636. S2CID 11517781.
^ Nagano Y, Yamashita H, Nakamura T, Takahashi T, Kondo E, Nakamura S (Dec 2001). "Lack of binding observed between human alpha-synuclein and Bcl-2 protein family". Neurosci. Lett. 316 (2): 103–7. doi:10.1016/s0304-3940(01)02330-8. PMID 11742726. S2CID 54363210.
^ Kawamata H, McLean PJ, Sharma N, Hyman BT (maj 2001). "Interaction of alpha-synuclein and synphilin-1: effect of Parkinson's disease-associated mutations". J. Neurochem. 77 (3): 929–34. doi:10.1046/j.1471-4159.2001.00301.x. PMID 11331421. S2CID 83885937.
^ Chung KK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J, Ross CA, Dawson VL, Dawson TM (oktobar 2001). "Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease". Nat. Med. 7 (10): 1144–50. doi:10.1038/nm1001-1144. PMID 11590439. S2CID 12487644.

Dopunska literatura

Krüger R (2005). "The role of synphilin-1 in synaptic function and protein degradation". Cell Tissue Res. 318 (1): 195–9. doi:10.1007/s00441-004-0953-z. PMID 15322916. S2CID 12186058.
Engelender S, Wanner T, Kleiderlein JJ, Wakabayashi K, Tsuji S, Takahashi H, Ashworth R, Margolis RL, Ross CA (2000). "Organization of the human synphilin-1 gene, a candidate for Parkinson's disease". Mamm. Genome. 11 (9): 763–6. doi:10.1007/s003350010123. PMID 10967135. S2CID 22420090.
Kawamata H, McLean PJ, Sharma N, Hyman BT (2001). "Interaction of alpha-synuclein and synphilin-1: effect of Parkinson's disease-associated mutations". J. Neurochem. 77 (3): 929–34. doi:10.1046/j.1471-4159.2001.00301.x. PMID 11331421. S2CID 83885937.
Chung KK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J, Ross CA, Dawson VL, Dawson TM (2001). "Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease". Nat. Med. 7 (10): 1144–50. doi:10.1038/nm1001-1144. PMID 11590439. S2CID 12487644.
Ribeiro CS, Carneiro K, Ross CA, Menezes JR, Engelender S (2002). "Synphilin-1 is developmentally localized to synaptic terminals, and its association with synaptic vesicles is modulated by alpha-synuclein". J. Biol. Chem. 277 (26): 23927–33. doi:10.1074/jbc.M201115200. PMID 11956199.
O'Farrell C, Pickford F, Vink L, McGowan E, Cookson MR (2002). "Sequence conservation between mouse and human synphilin-1". Neurosci. Lett. 322 (1): 9–12. doi:10.1016/S0304-3940(02)00068-X. PMID 11958831. S2CID 9654263.
Neystat M, Rzhetskaya M, Kholodilov N, Burke RE (2002). "Analysis of synphilin-1 and synuclein interactions by yeast two-hybrid beta-galactosidase liquid assay". Neurosci. Lett. 325 (2): 119–23. doi:10.1016/S0304-3940(02)00253-7. PMID 12044636. S2CID 11517781.
Junn E, Lee SS, Suhr UT, Mouradian MM (2003). "Parkin accumulation in aggresomes due to proteasome impairment". J. Biol. Chem. 277 (49): 47870–7. doi:10.1074/jbc.M203159200. PMID 12364339.
Ihara M, Tomimoto H, Kitayama H, Morioka Y, Akiguchi I, Shibasaki H, Noda M, Kinoshita M (2003). "Association of the cytoskeletal GTP-binding protein Sept4/H5 with cytoplasmic inclusions found in Parkinson's disease and other synucleinopathies". J. Biol. Chem. 278 (26): 24095–102. doi:10.1074/jbc.M301352200. PMID 12695511.
Ito T, Niwa J, Hishikawa N, Ishigaki S, Doyu M, Sobue G (2003). "Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1". J. Biol. Chem. 278 (31): 29106–14. doi:10.1074/jbc.M302763200. PMID 12750386.
Marx FP, Holzmann C, Strauss KM, Li L, Eberhardt O, Gerhardt E, Cookson MR, Hernandez D, Farrer MJ, Kachergus J, Engelender S, Ross CA, Berger K, Schöls L, Schulz JB, Riess O, Krüger R (2004). "Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease". Hum. Mol. Genet. 12 (11): 1223–31. doi:10.1093/hmg/ddg134. PMID 12761037.
Scherzer CR, Jensen RV, Gullans SR, Feany MB (2004). "Gene expression changes presage neurodegeneration in a Drosophila model of Parkinson's disease". Hum. Mol. Genet. 12 (19): 2457–66. doi:10.1093/hmg/ddg265. PMID 12915459.
Nagano Y, Yamashita H, Takahashi T, Kishida S, Nakamura T, Iseki E, Hattori N, Mizuno Y, Kikuchi A, Matsumoto M (2004). "Siah-1 facilitates ubiquitination and degradation of synphilin-1". J. Biol. Chem. 278 (51): 51504–14. doi:10.1074/jbc.M306347200. PMID 14506261.
Tanaka M, Kim YM, Lee G, Junn E, Iwatsubo T, Mouradian MM (2004). "Aggresomes formed by alpha-synuclein and synphilin-1 are cytoprotective". J. Biol. Chem. 279 (6): 4625–31. doi:10.1074/jbc.M310994200. PMID 14627698.
Lee G, Tanaka M, Park K, Lee SS, Kim YM, Junn E, Lee SH, Mouradian MM (2004). "Casein kinase II-mediated phosphorylation regulates alpha-synuclein/synphilin-1 interaction and inclusion body formation". J. Biol. Chem. 279 (8): 6834–9. doi:10.1074/jbc.M312760200. PMID 14645218.
Chung KK, Thomas B, Li X, Pletnikova O, Troncoso JC, Marsh L, Dawson VL, Dawson TM (2004). "S-nitrosylation of parkin regulates ubiquitination and compromises parkin's protective function". Science. 304 (5675): 1328–31. doi:10.1126/science.1093891. PMID 15105460. S2CID 86854030.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000064692 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024534 - 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.

[pmid10319874-5] Engelender S, Kaminsky Z, Guo X, Sharp AH, Amaravi RK, Kleiderlein JJ, Margolis RL, Troncoso JC, Lanahan AA, Worley PF, Dawson VL, Dawson TM, Ross CA (maj 1999). "Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions". Nat Genet. 22 (1): 110–4. doi:10.1038/8820. PMID 10319874. S2CID 2611127.

[entrez-6] "Entrez Gene: SNCAIP synuclein, alpha interacting protein (synphilin)".

[UniProt-7] "UniProt, Q9Y6H5" (jezik: engleski). Pristupljeno 20. 10. 2021.

[pmid12044636-8] Neystat M, Rzhetskaya M, Kholodilov N, Burke RE (juni 2002). "Analysis of synphilin-1 and synuclein interactions by yeast two-hybrid beta-galactosidase liquid assay". Neurosci. Lett. 325 (2): 119–23. doi:10.1016/s0304-3940(02)00253-7. PMID 12044636. S2CID 11517781.

[pmid11742726-9] Nagano Y, Yamashita H, Nakamura T, Takahashi T, Kondo E, Nakamura S (Dec 2001). "Lack of binding observed between human alpha-synuclein and Bcl-2 protein family". Neurosci. Lett. 316 (2): 103–7. doi:10.1016/s0304-3940(01)02330-8. PMID 11742726. S2CID 54363210.

[pmid11331421-10] Kawamata H, McLean PJ, Sharma N, Hyman BT (maj 2001). "Interaction of alpha-synuclein and synphilin-1: effect of Parkinson's disease-associated mutations". J. Neurochem. 77 (3): 929–34. doi:10.1046/j.1471-4159.2001.00301.x. PMID 11331421. S2CID 83885937.

[pmid11590439-11] Chung KK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J, Ross CA, Dawson VL, Dawson TM (oktobar 2001). "Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease". Nat. Med. 7 (10): 1144–50. doi:10.1038/nm1001-1144. PMID 11590439. S2CID 12487644.

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