NAPB

NAPB
Identifikatori
Aliasi	NAPB
Vanjski ID-jevi	OMIM: 611270 MGI: 104562 HomoloGene: 5332 GeneCards: NAPB
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	23,421,519 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	148,574,387 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• syntaxin binding; • GO:0001948, GO:0016582 vezivanje za proteine; • soluble NSF attachment protein activity;
Ćelijska komponenta	• SNARE complex; • Egzosom; • membrana; • vacuolar membrane; • synaptobrevin 2-SNAP-25-syntaxin-1a complex;
Biološki proces	• protein transport; • SNARE complex disassembly; • membrane fusion; • intracellular protein transport; • vesicle-mediated transport; • GO:0015915 transport; • regulation of synaptic vesicle priming; • synaptic transmission, glutamatergic;
	Izvori:Amigo / QuickGO
Ortolozi
	63908
	17957
	ENSG00000125814
	ENSMUSG00000027438
	Q9H115
	P28663
	NM_001283018; NM_001283020; NM_001283026; NM_022080
	NM_019632
	NP_001269947; NP_001269949; NP_001269955; NP_071363
	NP_062606
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Beta-topivi NSF vezni protein je protein koji je kod ljudi kodiran genom NAPB.^[5]^[6]

Gen NAPB kodira kofaktor uključen u fuziju i reciklažu sinapsniih vezikula zavisnih od SNARE kompleksa.

Whiteheart et al. (1993) klonirali beta-snap iz goveđeg mozga i identificirali homolog miša. Izvedeni protein goveda sadrži dva domena sa spiralnom zavojnicom i pet pretpostavljenih mjesta fosforilacije kazein-kinaza II . Northern blot analiza mišjih tkiva otkrila je ekspresiju beta-Snapa samo u mozgu.

Životinjski model

Burgalossi et al. (2010) otkrili su da su napb-nulti miševi razvili teške rekurentne epileptične napade od 11. postnatusnog dana nadalje, praćene ataksijom. Mutantni mozak nije pokazivao morfološke promjene u odnosu na divlji tip, a neuroni hipokampusa izvedeni od mutiranih miševa nisu pokazivali uočljive promjene prenosa u sinapsama.

Kod šestogodišnje djevojčice, srodnih roditelja irskog porijekla, s ranom infantilnom epileptičnom encefalopatijom, Conroy et at. (2016) identificirali su homozigotnu transverziju c.565C-A (c.565C-A, ENST00000377026), što je rezultiralo zamjenom ser160-to-ter (S160X). Mutacija, koja je pronađena sekvenciranjem i potvrđena Sanger sekvenciranjem, razdvajala se od poremećaja u porodici. Funkcijske studije varijante i studije ćelija pacijenta nisu provedene, ali se predviđalo da će varijanta rezultirati gubitkom proteina i potpunim gubitkom funkcije, sa vjerovatnoćom od 46%. U kohorti od 49 irskih pacijenata sa sličnim fenotipom nisu pronađene NAPB varijante. Pacijent je imao miješane tonusne / ili klonusne napade u dobi od pet mjeseci, praćene progresivnom mikrocefalijom, dubokim globalnim zastojem u razvoju s odsustvom govora i hipotonijom.^[7]^[8]^[9]

Reference

1 2 3 GRCh38: Ensembl release 89: ENSG00000125814 - Ensembl, maj 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027438 - 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.
↑ Whiteheart SW, Griff IC, Brunner M, Clary DO, Mayer T, Buhrow SA, Rothman JE (Apr 1993). "SNAP family of NSF attachment proteins includes a brain-specific isoform". Nature. 362 (6418): 353–5. Bibcode:1993Natur.362..353W. doi:10.1038/362353a0. PMID 8455721. S2CID 4341471.
↑ "Entrez Gene: NAPB N-ethylmaleimide-sensitive factor attachment protein, beta".
↑ Burgalossi, A., Jung, S., Meyer, G., Jockusch, W. J., Jahn, O., Taschenberger, H., O'Connor, V. M., Nishiki, T., Takahashi, M., Brose, N., Rhee, J.-S. SNARE protein recycling by alpha-SNAP and beta-SNAP supports synaptic vesicle priming. Neuron 68: 473-487, 2010. Note: Erratum: Neuron 73: 620 only, 2012. [PubMed]: 21040848
↑ Conroy, J., Allen, N. M., Gorman, K. M., Shahwan, A., Ennis, S., Lynch, S. A., King, M. D. NAPB--a novel SNARE-associated protein for early-onset epileptic encephalopathy. Clin. Genet. 89: E1-E3, 2016. Note: Electronic Article. [PubMed[: 26235277.
↑ Whiteheart, S. W., Griff, I. C., Brunner, M., Clary, D. O., Mayer, T., Buhrow, S. A., Rothman, J. E. SNAP family of NSF attachment proteins includes a brain-specific isoform. Nature 362: 353-355, 1993. [PubMed]: 8455721

Dopunska literatura

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.
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.
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.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi:10.1038/414865a. PMID 11780052.
Prekeris R, Klumperman J, Chen YA, Scheller RH (1998). "Syntaxin 13 mediates cycling of plasma membrane proteins via tubulovesicular recycling endosomes". J. Cell Biol. 143 (4): 957–71. doi:10.1083/jcb.143.4.957. PMC 2132958. PMID 9817754.
Osten P, Srivastava S, Inman GJ, et al. (1998). "The AMPA receptor GluR2 C terminus can mediate a reversible, ATP-dependent interaction with NSF and alpha- and beta-SNAPs". Neuron. 21 (1): 99–110. doi:10.1016/S0896-6273(00)80518-8. PMID 9697855. S2CID 18569829.
Wilson DW, Whiteheart SW, Wiedmann M, et al. (1992). "A multisubunit particle implicated in membrane fusion". J. Cell Biol. 117 (3): 531–8. doi:10.1083/jcb.117.3.531. PMC 2289450. PMID 1315316.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000125814 - Ensembl, maj 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027438 - 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.

[pmid8455721-5] Whiteheart SW, Griff IC, Brunner M, Clary DO, Mayer T, Buhrow SA, Rothman JE (Apr 1993). "SNAP family of NSF attachment proteins includes a brain-specific isoform". Nature. 362 (6418): 353–5. Bibcode:1993Natur.362..353W. doi:10.1038/362353a0. PMID 8455721. S2CID 4341471.

[entrez-6] "Entrez Gene: NAPB N-ethylmaleimide-sensitive factor attachment protein, beta".

[7] Burgalossi, A., Jung, S., Meyer, G., Jockusch, W. J., Jahn, O., Taschenberger, H., O'Connor, V. M., Nishiki, T., Takahashi, M., Brose, N., Rhee, J.-S. SNARE protein recycling by alpha-SNAP and beta-SNAP supports synaptic vesicle priming. Neuron 68: 473-487, 2010. Note: Erratum: Neuron 73: 620 only, 2012. [PubMed]: 21040848

[8] Conroy, J., Allen, N. M., Gorman, K. M., Shahwan, A., Ennis, S., Lynch, S. A., King, M. D. NAPB--a novel SNARE-associated protein for early-onset epileptic encephalopathy. Clin. Genet. 89: E1-E3, 2016. Note: Electronic Article. [PubMed[: 26235277.

[9] Whiteheart, S. W., Griff, I. C., Brunner, M., Clary, D. O., Mayer, T., Buhrow, S. A., Rothman, J. E. SNAP family of NSF attachment proteins includes a brain-specific isoform. Nature 362: 353-355, 1993. [PubMed]: 8455721

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