SEPT5

SEPT5
Identifikatori
Aliasi	SEPTIN5
Vanjski ID-jevi	OMIM: 602724 MGI: 1195461 HomoloGene: 74446 GeneCards: SEPTIN5
Lokacija gena (čovjek)
Hrom.	Hromosom 22 (čovjek)
Kraj	19,724,224 bp
Lokacija gena (miš)
Hrom.	Hromosom 16 (miš)
Kraj	18,448,704 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• nucleotide binding; • GTP binding; • GO:0001948, GO:0016582 vezivanje za proteine; • structural molecule activity; • GO:0006184 GTPase activity; • GO:0032947 molecular adaptor activity;
Ćelijska komponenta	• citoplazma; • ćelijska membrana; • citoskelet; • Sinapsna vezikula; • septin ring; • microtubule cytoskeleton; • septin complex; • septin filament array;
Biološki proces	• ćelijski ciklus; • regulation of synaptic vesicle exocytosis; • synaptic vesicle targeting; • Ćelijska dioba; • regulation of exocytosis; • mitotic cytokinesis; • septin ring assembly; • cilium assembly; • adult behavior; • socijalno ponašanje; • cytoskeleton-dependent cytokinesis;
	Izvori:Amigo / QuickGO
Ortolozi
	5413
	18951
	ENSG00000184702
	ENSMUSG00000072214
	Q99719
	Q9Z2Q6
	NM_002688; NM_001009939
	NM_213614
	NP_001009939; NP_002679
	NP_998779
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Septin-5 jest protein koji je kod ljudi kodiran genom SEPT5 sa hromosoma 22.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 369 aminokiselina, a molekulska težina 42 777 Da.^[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
MSTGLRYKSK	LATPEDKQDI	DKQYVGFATL	PNQVHRKSVK	KGFDFTLMVA
GESGLGKSTL	VHSLFLTDLY	KDRKLLSAEE	RISQTVEILK	HTVDIEEKGV
KLKLTIVDTP	GFGDAVNNTE	CWKPITDYVD	QQFEQYFRDE	SGLNRKNIQD
NRVHCCLYFI	SPFGHGLRPV	DVGFMKALHE	KVNIVPLIAK	ADCLVPSEIR
KLKERIREEI	DKFGIHVYQF	PECDSDEDED	FKQQDRELKE	SAPFAVIGSN
TVVEAKGQRV	RGRLYPWGIV	EVENQAHCDF	VKLRNMLIRT	HMHDLKDVTC
DVHYENYRAH	CIQQMTSKLT	QDSRMESPIP	ILPLPTPDAE	TEKLIRMKDE
ELRRMQEMLQ	RMKQQMQDQ

Funkcija

Ovaj gen je član porodice gena septinskih proteina koji vezuju nukleotide, prvobitno opisane u kvascima. kao regulatorni proteini ciklusa ćelijske deobe. Septini su visoko konzervirani u kvasacima, rodu Drosophila i miševima i izgleda da regulišu organizaciju citoskeleta. Poremećaj funkcije septina remeti citokinezu i dovodi do velikih višejedarnih] ili poliploidnih ćelija. Ovaj gen je mapiran na hromosomu 22, regija q11, koja se često deletira u DiGeorgeovim i velokardiofacijalnim sindromima.

Translokacija koja uključuje gen MLL i ovaj gen također je prijavljena kod pacijenata s akutnom mijeloidnom leukemijom. Uočena su dvije varijante transkripta ovog gena, glavni od 2,2 kb i manji od 3,5 kb. Forma od 2,2 kb je posljedica korištenja nekonsenzusnog poliA signala (AACAAT). U nedostatku poliadenilacija sa ovog nesavršenog mjesta, koristi se konsenzusni poliA signal nizvodnog susjednog gena (GP1BB; trombocitni glikoprotein Ib), što rezultira transkriptom od 3,5 kb. Identificirana je i alternativno prerađena varijanta transkripta s drugim krajem od 5', ali njegova priroda pune dužine nije u potpunosti utvrđena.^[7]

Interakcije

Pokazalo se da SEPT5 ima interakcije sa:

PARK2,^[8]^[9] i
SEPT8^[10]^[11]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000184702 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000072214 - 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.
^ McKie JM, Sutherland HF, Harvey E, Kim UJ, Scambler PJ (November 1997). "A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11". Human Genetics. 101 (1): 6–12. doi:10.1007/s004390050576. PMID 9385360. S2CID 21377515.
^ Yagi M, Zieger B, Roth GJ, Ware J (June 1998). "Structure and expression of the human septin gene HCDCREL-1". Gene. 212 (2): 229–36. doi:10.1016/S0378-1119(98)00146-2. PMID 9611266.
^ ^a ^b ^c "Entrez Gene: SEPT5 septin 5".
^ Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, Lim K, Chung KK, Kehoe K, D'Adamio L, Lee JM, Cochran E, Bowser R, Dawson TM, Wolozin B (October 2003). "SEPT5_v2 is a parkin-binding protein". Brain Research. Molecular Brain Research. 117 (2): 179–89. doi:10.1016/S0169-328X(03)00318-8. PMID 14559152.
^ Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, Dong JT, Li M, Joshi HC, Zhou J (December 2008). "Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase". The Journal of Biological Chemistry. 283 (51): 35783–8. doi:10.1074/jbc.M806860200. PMID 18845538.
^ Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B (July 2003). "Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202)". Gene. 312: 313–20. doi:10.1016/S0378-1119(03)00635-8. PMID 12909369.
^ Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B (May 2002). "Human septin-septin interaction: CDCrel-1 partners with KIAA0202". FEBS Letters. 519 (1–3): 169–72. doi:10.1016/S0014-5793(02)02749-7. PMID 12023038.

Dopunska literatura

Yagi M, Edelhoff S, Disteche CM, Roth GJ (July 1994). "Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta". The Journal of Biological Chemistry. 269 (26): 17424–7. doi:10.1016/S0021-9258(17)32456-0. PMID 8021244.
Zieger B, Hashimoto Y, Ware J (February 1997). "Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence". The Journal of Clinical Investigation. 99 (3): 520–5. doi:10.1172/JCI119188. PMC 507827. PMID 9022087.
Megonigal MD, Rappaport EF, Jones DH, Williams TM, Lovett BD, Kelly KM, Lerou PH, Moulton T, Budarf ML, Felix CA (May 1998). "t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes". Proceedings of the National Academy of Sciences of the United States of America. 95 (11): 6413–8. Bibcode:1998PNAS...95.6413M. doi:10.1073/pnas.95.11.6413. PMC 27754. PMID 9600980.
Hsu SC, Hazuka CD, Roth R, Foletti DL, Heuser J, Scheller RH (June 1998). "Subunit composition, protein interactions, and structures of the mammalian brain sec6/8 complex and septin filaments". Neuron. 20 (6): 1111–22. doi:10.1016/S0896-6273(00)80493-6. PMID 9655500.
Caltagarone J, Rhodes J, Honer WG, Bowser R (August 1998). "Localization of a novel septin protein, hCDCrel-1, in neurons of human brain". NeuroReport. 9 (12): 2907–12. doi:10.1097/00001756-199808240-00042. PMID 9760144. S2CID 10343782.
Beites CL, Xie H, Bowser R, Trimble WS (May 1999). "The septin CDCrel-1 binds syntaxin and inhibits exocytosis". Nature Neuroscience. 2 (5): 434–9. doi:10.1038/8100. PMID 10321247. S2CID 5863477.
Zhang Y, Gao J, Chung KK, Huang H, Dawson VL, Dawson TM (November 2000). "Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1". Proceedings of the National Academy of Sciences of the United States of America. 97 (24): 13354–9. Bibcode:2000PNAS...9713354Z. doi:10.1073/pnas.240347797. PMC 27228. PMID 11078524.
Larisch S, Yi Y, Lotan R, Kerner H, Eimerl S, Tony Parks W, Gottfried Y, Birkey Reffey S, de Caestecker MP, Danielpour D, Book-Melamed N, Timberg R, Duckett CS, Lechleider RJ, Steller H, Orly J, Kim SJ, Roberts AB (December 2000). "A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif". Nature Cell Biology. 2 (12): 915–21. doi:10.1038/35046566. PMID 11146656. S2CID 12321788.
Dent J, Kato K, Peng XR, Martinez C, Cattaneo M, Poujol C, Nurden P, Nurden A, Trimble WS, Ware J (March 2002). "A prototypic platelet septin and its participation in secretion". Proceedings of the National Academy of Sciences of the United States of America. 99 (5): 3064–9. Bibcode:2002PNAS...99.3064D. doi:10.1073/pnas.052715199. PMC 122473. PMID 11880646.
Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B (May 2002). "Human septin-septin interaction: CDCrel-1 partners with KIAA0202". FEBS Letters. 519 (1–3): 169–72. doi:10.1016/S0014-5793(02)02749-7. PMID 12023038.
Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B (July 2003). "Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202)". Gene. 312: 313–20. doi:10.1016/S0378-1119(03)00635-8. PMID 12909369.
Dong Z, Ferger B, Paterna JC, Vogel D, Furler S, Osinde M, Feldon J, Büeler H (October 2003). "Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein, CDCrel-1". Proceedings of the National Academy of Sciences of the United States of America. 100 (21): 12438–43. Bibcode:2003PNAS..10012438D. doi:10.1073/pnas.2132992100. PMC 218776. PMID 14530399.
Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, Lim K, Chung KK, Kehoe K, D'Adamio L, Lee JM, Cochran E, Bowser R, Dawson TM, Wolozin B (October 2003). "SEPT5_v2 is a parkin-binding protein". Brain Research. Molecular Brain Research. 117 (2): 179–89. doi:10.1016/S0169-328X(03)00318-8. PMID 14559152.
Bläser S, Horn J, Würmell P, Bauer H, Strümpell S, Nurden P, Pagenstecher A, Busse A, Wunderle D, Hainmann I, Zieger B (May 2004). "The novel human platelet septin SEPT8 is an interaction partner of SEPT4". Thrombosis and Haemostasis. 91 (5): 959–66. doi:10.1160/TH03-09-0578. PMID 15116257.
Martínez C, Sanjuan MA, Dent JA, Karlsson L, Ware J (September 2004). "Human septin-septin interactions as a prerequisite for targeting septin complexes in the cytosol". The Biochemical Journal. 382 (Pt 3): 783–91. doi:10.1042/BJ20040372. PMC 1133953. PMID 15214843.
Lehner B, Sanderson CM (July 2004). "A protein interaction framework for human mRNA degradation". Genome Research. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000184702 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000072214 - 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.

[pmid9385360-5] McKie JM, Sutherland HF, Harvey E, Kim UJ, Scambler PJ (November 1997). "A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11". Human Genetics. 101 (1): 6–12. doi:10.1007/s004390050576. PMID 9385360. S2CID 21377515.

[pmid9611266-6] Yagi M, Zieger B, Roth GJ, Ware J (June 1998). "Structure and expression of the human septin gene HCDCREL-1". Gene. 212 (2): 229–36. doi:10.1016/S0378-1119(98)00146-2. PMID 9611266.

[entrez-7] "Entrez Gene: SEPT5 septin 5".

[pmid14559152-8] Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, Lim K, Chung KK, Kehoe K, D'Adamio L, Lee JM, Cochran E, Bowser R, Dawson TM, Wolozin B (October 2003). "SEPT5_v2 is a parkin-binding protein". Brain Research. Molecular Brain Research. 117 (2): 179–89. doi:10.1016/S0169-328X(03)00318-8. PMID 14559152.

[pmid18845538-9] Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, Dong JT, Li M, Joshi HC, Zhou J (December 2008). "Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase". The Journal of Biological Chemistry. 283 (51): 35783–8. doi:10.1074/jbc.M806860200. PMID 18845538.

[pmid12909369-10] Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B (July 2003). "Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202)". Gene. 312: 313–20. doi:10.1016/S0378-1119(03)00635-8. PMID 12909369.

[pmid12023038-11] Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B (May 2002). "Human septin-septin interaction: CDCrel-1 partners with KIAA0202". FEBS Letters. 519 (1–3): 169–72. doi:10.1016/S0014-5793(02)02749-7. PMID 12023038.

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