SYNGR1
From Wikipedia, the free encyclopedia
Synaptogyrin 1
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Identifiers | ||||||||
Symbol(s) | SYNGR1; MGC:1939 | |||||||
External IDs | OMIM: 603925 MGI: 1328323 HomoloGene: 3456 | |||||||
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RNA expression pattern | ||||||||
Orthologs | ||||||||
Human | Mouse | |||||||
Entrez | 9145 | 20972 | ||||||
Ensembl | ENSG00000100321 | ENSMUSG00000022415 | ||||||
Uniprot | O43759 | O55100 | ||||||
Refseq | NM_004711 (mRNA) NP_004702 (protein) |
NM_009303 (mRNA) NP_033329 (protein) |
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Location | Chr 22: 38.08 - 38.11 Mb | Chr 15: 79.92 - 79.95 Mb | ||||||
Pubmed search | [1] | [2] |
Synaptogyrin 1, also known as SYNGR1, is a human gene.[1]
This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified.[1]
[edit] References
[edit] Further reading
- Kedra D, Pan HQ, Seroussi E, et al. (1998). "Characterization of the human synaptogyrin gene family.". Hum. Genet. 103 (2): 131-41. PMID 9760194.
- Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489-95. doi: . PMID 10591208.
- Janz R, Südhof TC, Hammer RE, et al. (2000). "Essential roles in synaptic plasticity for synaptogyrin I and synaptophysin I.". Neuron 24 (3): 687-700. PMID 10595519.
- 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. 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. doi: . 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. PMID 14732601.
- 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: . 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: . 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: . 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: . 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: . 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: . PMID 17081065.