VAT1

VAT1
Identifikatori
Aliasi	VAT1
Vanjski ID-jevi	OMIM: 604631 MGI: 1349450 HomoloGene: 36200 GeneCards: VAT1
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	43,025,123 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	101,357,056 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• oxidoreductase activity; • vezivanje iona cinka;
Ćelijska komponenta	• citoplazma; • integral component of membrane; • mitochondrial outer membrane; • Egzosom; • membrana; • mitohondrija; • extracellular region; • azurophil granule lumen;
Biološki proces	• negative regulation of mitochondrial fusion; • neutrophil degranulation;
	Izvori:Amigo / QuickGO
Ortolozi
	10493
	26949
	ENSG00000108828
	ENSMUSG00000034993
	Q99536
	Q62465
	NM_006373
	NM_012037
	NP_006364; NP_006364.2
	NP_036167
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

VAT-1 homolog membranskog proteina sinapsne vezikule je protein koji je kod ljudi kodiran genom VAT1.^[5]^[6]^[7]

Smith et al. (1996) utvrdili su da gen VAT1 sadrži šest egzona u rasponu od 8,1 kb, a Friedman et al. (1995) identificirali su gen VAT1 na hromosomu 17, pozicija q21. Odredili su sljedeći poredak gena na hromosomu 17q21: cen - IFP35 (600735) - VAT1 - RHO7 - BRCA1—1A1-3B - tel. Sinapsne vezikule odgovorne su za regulaciju skladištenja i oslobađanja neurotransmitera u nervnom terminalu. Protein koji kodira ovaj gen obilni je integralni membranski protein holinergijskih sinapsih vezikula i smatra se da je uključen u transport vezikula. Pripada potporodici kinon-oksidoreduktaznih proteina alkoholne dehidrogenaze koji sadrže cink.^[7]

U melanocitnim ćelijama, ekspresija gena VAT1 može se regulirati pomoću transkripcijskog faktora povezanog sa mikroftalmijom (MITF).^[8]

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 393 aminokiseline, a molekulska težina 41.920 Da.^[9]

10	20	30	40	50
MSDEREVAEA	ATGEDASSPP	PKTEAASDPQ	HPAASEGAAA	AAASPPLLRC
LVLTGFGGYD	KVKLQSRPAA	PPAPGPGQLT	LRLRACGLNF	ADLMARQGLY
DRLPPLPVTP	GMEGAGVVIA	VGEGVSDRKA	GDRVMVLNRS	GMWQEEVTVP
SVQTFLIPEA	MTFEEAAALL	VNYITAYMVL	FDFGNLQPGH	SVLVHMAAGG
VGMAAVQLCR	TVENVTVFGT	ASASKHEALK	ENGVTHPIDY	HTTDYVDEIK
KISPKGVDIV	MDPLGGSDTA	KGYNLLKPMG	KVVTYGMANL	LTGPKRNLMA
LARTWWNQFS	VTALQLLQAN	RAVCGFHLGY	LDGEVELVSG	VVARLLALYN
QGHIKPHIDS	VWPFEKVADA	MKQMQEKKNV	GKVLLVPGPE	KEN

Simboli

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

Kloniranje i ekspresija uredi

Sinaptsne vezikule odgovorne su za regulaciju skladištenja i oslobađanja neurotransmitera u nervnom terminalu. Korištenjem ekspresijskog izbora biblioteke električnih morskih riba raža, roda Torpedo, Linial et al. (1989) identificirali su cDNK koja kodira 379-aminokiselinski integralni membranski protein sinapsnih vezikula, koji su nazvali VAT1. Northern blot analiza otkrila je da se transkript od 5,8 kb eksprimira u elektromotornim neuronima. Western blot analizom utvrđena je ekspresija proteina od 42 kD u električnom organu koji je prečišćen sinapsnim vezikulama.

Pokušavajući identificirati gen BRCA1, Friedman et al. (1995) klonirali su cDNK za brojne gene na hromosomu 17, sekvenca q21, uključujući jedan sa značajnom homologijom sa torpedovom VAT1.

Slučajnim sekvenciranjem četiri kozmida iz biblioteke specifične za ljudski hromosom 17, Smith et al. (1996) identificirali su sekvencu dva kompletna gena unutar 117 kb DNK, koja sadrže gen BRCA1: RHO7 i VAT1, obilni membranski protein holinergijskih sinapsnih vezikula. Kodirajuća sekvenca VAT1 predviđa peptid sa 301 aminokiselinom.^[10]^[11]^[12]

Reference uredi

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108828 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034993 - 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.
^ Friedman LS, Ostermeyer EA, Lynch ED, Welcsh P, Szabo CI, Meza JE, Anderson LA, Dowd P, Lee MK, Rowell SE, et al. (Jul 1995). "22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors". Genomics. 25 (1): 256–63. doi:10.1016/0888-7543(95)80133-7. PMID 7774926.
^ Smith TM, Lee MK, Szabo CI, Jerome N, McEuen M, Taylor M, Hood L, King MC (Feb 1997). "Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1". Genome Res. 6 (11): 1029–49. doi:10.1101/gr.6.11.1029. PMID 8938427.
^ ^a ^b "Entrez Gene: VAT1 vesicle amine transport protein 1 homolog (T. californica)".
^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.
^ "UniProt, Q99536". Pristupljeno 14. 6. 2021.
^ Friedman, L. S., Ostermeyer, E. A., Lynch, E. D., Welcsh, P., Szabo, C. I., Meza, J. E., Anderson, L. A., Dowd, P., Lee, M. K., Rowell, S. E., Ellison, J., Boyd, J., King, M.-C. 22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors. Genomics 25: 256-163, 1995. PubMed: 7774926.
^ Linial, M., Miller, K., Scheller, R. H. VAT-1: an abundant membrane protein from Torpedo cholinergic synaptic vesicles. Neuron 2: 1265-1273, 1989. [PubMed]: 2483112.
^ Smith, T. M., Lee, M. K., Szabo, C. I., Jerome, N., McEuen, M., Taylor, M., Hood, L., King, M.-C. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res. 6: 1029-1049, 1996. [PubMed]: 8938427

Dopunska literatura uredi

Miki Y, Swensen J, Shattuck-Eidens D, et al. (1994). "A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1". Science. 266 (5182): 66–71. doi:10.1126/science.7545954. PMID 7545954.
Harshman K, Bell R, Rosenthal J, et al. (1995). "Comparison of the positional cloning methods used to isolate the BRCA1 gene". Hum. Mol. Genet. 4 (8): 1259–66. doi:10.1093/hmg/4.8.1259. PMID 7581362.
Friedman LS, Ostermeyer EA, Lynch ED, et al. (1995). "The search for BRCA1". Cancer Res. 54 (24): 6374–82. PMID 7987831.
Matoba R, Okubo K, Hori N, et al. (1994). "The addition of 5'-coding information to a 3'-directed cDNA library improves analysis of gene expression". Gene. 146 (2): 199–207. doi:10.1016/0378-1119(94)90293-3. PMID 8076819.
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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000108828 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034993 - 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.

[pmid7774926-5] Friedman LS, Ostermeyer EA, Lynch ED, Welcsh P, Szabo CI, Meza JE, Anderson LA, Dowd P, Lee MK, Rowell SE, et al. (Jul 1995). "22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors". Genomics. 25 (1): 256–63. doi:10.1016/0888-7543(95)80133-7. PMID 7774926.

[pmid8938427-6] Smith TM, Lee MK, Szabo CI, Jerome N, McEuen M, Taylor M, Hood L, King MC (Feb 1997). "Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1". Genome Res. 6 (11): 1029–49. doi:10.1101/gr.6.11.1029. PMID 8938427.

[entrez-7] "Entrez Gene: VAT1 vesicle amine transport protein 1 homolog (T. californica)".

[pmid19067971-8] Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.

[UniProt-9] "UniProt, Q99536". Pristupljeno 14. 6. 2021.

[10] Friedman, L. S., Ostermeyer, E. A., Lynch, E. D., Welcsh, P., Szabo, C. I., Meza, J. E., Anderson, L. A., Dowd, P., Lee, M. K., Rowell, S. E., Ellison, J., Boyd, J., King, M.-C. 22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors. Genomics 25: 256-163, 1995. PubMed: 7774926.

[11] Linial, M., Miller, K., Scheller, R. H. VAT-1: an abundant membrane protein from Torpedo cholinergic synaptic vesicles. Neuron 2: 1265-1273, 1989. [PubMed]: 2483112.

[12] Smith, T. M., Lee, M. K., Szabo, C. I., Jerome, N., McEuen, M., Taylor, M., Hood, L., King, M.-C. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res. 6: 1029-1049, 1996. [PubMed]: 8938427

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