SYNGR1

SYNGR1
Identifikatori
Aliasi	SYNGR1
Vanjski ID-jevi	OMIM: 603925 MGI: 1328323 HomoloGene: 3456 GeneCards: SYNGR1
Lokacija gena (čovjek)
Hrom.	Hromosom 22 (čovjek)
Kraj	39,385,575 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	80,003,702 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• Melanosom; • integral component of membrane; • međućelijske veze; • Nervno-mišićna veza; • sinapsa; • synaptic vesicle membrane; • membrana; • Sinapsna vezikula; • ćelijska membrana; • azurophil granule membrane; • GO:0016023 citoplazmatska vezikula; • integral component of synaptic vesicle membrane;
Biološki proces	• regulation of short-term neuronal synaptic plasticity; • Ciljanje proteina; • regulation of long-term neuronal synaptic plasticity; • neutrophil degranulation; • cellular response to leukemia inhibitory factor; • regulated exocytosis; • synaptic vesicle membrane organization;
	Izvori:Amigo / QuickGO
Ortolozi
	9145
	20972
	ENSG00000100321
	ENSMUSG00000022415
	O43759
	O55100
	NM_145738; NM_004711; NM_145731
	NM_009303; NM_207708
	NP_004702; NP_663783; NP_663791
	NP_033329; NP_997591
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Sinaptogirin-1 jest protein koji je kod ljudi kodiran genom SYNGR1 sa hromosoma 22.^[5]^[6]^[7]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 233 aminokiseline, a molekulska težina 25.456 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
MEGGAYGAGK	AGGAFDPYTL	VRQPHTILRV	VSWLFSIVVF	GSIVNEGYLN
SASEGEEFCI	YNRNPNACSY	GVAVGVLAFL	TCLLYLALDV	YFPQISSVKD
RKKAVLSDIG	VSAFWAFLWF	VGFCYLANQW	QVSKPKDNPL	NEGTDAARAA
IAFSFFSIFT	WAGQAVLAFQ	RYQIGADSAL	FSQDYMDPSQ	DSSMPYAPYV
EPTGPDPAGM	GGTYQQPANT	FDTEPQGYQS	QGY

Funkcija[uredi | uredi izvor]

Ovaj gen kodira integralni membranski protein povezan sa presinapsnim vezikula mau neuronskim ćelijama. Tačna funkcija ovog proteina je nejasna, ali studije sličnog mišjeg proteina sugeriraju da funkcionira u sinapsnoj plastičnosti, a da nije potreban za sinapsni prijenos. Genski proizvod pripada porodici gena sinaptogirina. Identificirane su tri alternativno prerađene varijante transkripta koje kodiraju tri različite izoforme.^[7]

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100321 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022415 - 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.
^ Kedra D, Pan HQ, Seroussi E, Fransson I, Guilbaud C, Collins JE, Dunham I, Blennow E, Roe BA, Piehl F, Dumanski JP (Oct 1998). "Characterization of the human synaptogyrin gene family". Hum Genet. 103 (2): 131–41. doi:10.1007/s004390050795. PMID 9760194. S2CID 2310048.
^ Janz R, Sudhof TC, Hammer RE, Unni V, Siegelbaum SA, Bolshakov VY (Jan 2000). "Essential roles in synaptic plasticity for synaptogyrin I and synaptophysin I". Neuron. 24 (3): 687–700. doi:10.1016/S0896-6273(00)81122-8. PMID 10595519.
^ ^a ^b ^c "Entrez Gene: SYNGR1 synaptogyrin 1".

Dopunska literatura[uredi | uredi izvor]

Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
Mirnics K, Middleton FA, Marquez A, et al. (2000). "Molecular characterization of schizophrenia viewed by microarray analysis of gene expression in prefrontal cortex". Neuron. 28 (1): 53–67. doi:10.1016/S0896-6273(00)00085-4. PMID 11086983.
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.
Verma R, Chauhan C, Saleem Q, et al. (2004). "A nonsense mutation in the synaptogyrin 1 gene in a family with schizophrenia". Biol. Psychiatry. 55 (2): 196–9. doi:10.1016/j.biopsych.2003.10.012. PMID 14732601. S2CID 26812099.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
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.
Verma R, Kubendran S, Das SK, et al. (2006). "SYNGR1 is associated with schizophrenia and bipolar disorder in southern India". J. Hum. Genet. 50 (12): 635–40. doi:10.1007/s10038-005-0307-z. PMID 16215643.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Cheng MC, Chen CH (2007). "Identification of rare mutations of synaptogyrin 1 gene in patients with schizophrenia". Journal of Psychiatric Research. 41 (12): 1027–31. doi:10.1016/j.jpsychires.2006.08.010. PMID 17049558.
Chi A, Valencia JC, Hu ZZ, et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". J. Proteome Res. 5 (11): 3135–44. doi:10.1021/pr060363j. PMID 17081065.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100321 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022415 - 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.

[pmid9760194-5] Kedra D, Pan HQ, Seroussi E, Fransson I, Guilbaud C, Collins JE, Dunham I, Blennow E, Roe BA, Piehl F, Dumanski JP (Oct 1998). "Characterization of the human synaptogyrin gene family". Hum Genet. 103 (2): 131–41. doi:10.1007/s004390050795. PMID 9760194. S2CID 2310048.

[pmid10595519-6] Janz R, Sudhof TC, Hammer RE, Unni V, Siegelbaum SA, Bolshakov VY (Jan 2000). "Essential roles in synaptic plasticity for synaptogyrin I and synaptophysin I". Neuron. 24 (3): 687–700. doi:10.1016/S0896-6273(00)81122-8. PMID 10595519.

[entrez-7] "Entrez Gene: SYNGR1 synaptogyrin 1".

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