SEPT12
| Septin 12 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | SEPT12 ; SPGF10 | ||||||||||||
| External IDs | OMIM: 611562 HomoloGene: 69435 GeneCards: SEPT12 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 124404 | 71089 | |||||||||||
| Ensembl | ENSG00000140623 | ENSMUSG00000022542 | |||||||||||
| UniProt | Q8IYM1 | n/a | |||||||||||
| RefSeq (mRNA) | NM_001154458 | NM_027669 | |||||||||||
| RefSeq (protein) | NP_001147930 | NP_081945 | |||||||||||
| Location (UCSC) |
Chr 16: 4.78 – 4.79 Mb |
Chr 16: 4.99 – 5 Mb | |||||||||||
| PubMed search | |||||||||||||
Septin 12 is a protein that in humans is encoded by the SEPT12 gene.[1]
Function
This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene.[1]
References
Further reading
- Kuo PL, Chiang HS, Wang YY, Kuo YC, Chen MF, Yu IS, Teng YN, Lin SW, Lin YH (2013). "SEPT12-microtubule complexes are required for sperm head and tail formation". International Journal of Molecular Sciences 14 (11): 22102–16. doi:10.3390/ijms141122102. PMC 3856054. PMID 24213608.
- Hall PA, Jung K, Hillan KJ, Russell SE (2005). "Expression profiling the human septin gene family". The Journal of Pathology 206 (3): 269–78. doi:10.1002/path.1789. PMID 15915442.
- Kinoshita M (2003). "The septins". Genome Biology 4 (11): 236. doi:10.1186/gb-2003-4-11-236. PMC 329110. PMID 14611653.
- Ding X, Yu W, Liu M, Shen S, Chen F, Wan B, Yu L (2007). "SEPT12 interacts with SEPT6 and this interaction alters the filament structure of SEPT6 in Hela cells". Journal of biochemistry and molecular biology 40 (6): 973–8. PMID 18047794.
- Kuo YC, Lin YH, Chen HI, Wang YY, Chiou YW, Lin HH, Pan HA, Wu CM, Su SM, Hsu CC, Kuo PL (2012). "SEPT12 mutations cause male infertility with defective sperm annulus". Human Mutation 33 (4): 710–9. doi:10.1002/humu.22028. PMID 22275165.
- Miyakawa H, Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Saijo Y, Namiki M, Sengoku K (2012). "Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome". Journal of Andrology 33 (3): 483–7. doi:10.2164/jandrol.110.012146. PMID 21636737.
- Lin YH, Wang YY, Chen HI, Kuo YC, Chiou YW, Lin HH, Wu CM, Hsu CC, Chiang HS, Kuo PL (2012). "SEPTIN12 genetic variants confer susceptibility to teratozoospermia". PLoS ONE 7 (3): e34011. doi:10.1371/journal.pone.0034011. PMC 3316533. PMID 22479503.
- Lin YH, Lin YM, Wang YY, Yu IS, Lin YW, Wang YH, Wu CM, Pan HA, Chao SC, Yen PH, Lin SW, Kuo PL (2009). "The expression level of septin12 is critical for spermiogenesis". The American Journal of Pathology 174 (5): 1857–68. doi:10.2353/ajpath.2009.080955. PMC 2671274. PMID 19359518.
- Miyamoto T, Tsujimura A, Miyagawa Y, Koh E, Namiki M, Horikawa M, Saijo Y, Sengoku K (2012). "Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men". Journal of Assisted Reproduction and Genetics 29 (1): 47–51. doi:10.1007/s10815-011-9679-5. PMC 3252415. PMID 22116646.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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