SEPT12

SEPTIN12
Identifiers
Aliases	SEPTIN12, SPGF10, septin 12, SEPT12
External IDs	OMIM: 611562; MGI: 1918339; HomoloGene: 69435; GeneCards: SEPTIN12; OMA:SEPTIN12 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16p13.3 Start 4,777,606 bp End 4,788,398 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16|16 A1 Start 4,804,722 bp End 4,815,716 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis testicle cerebellar cortex cerebellar hemisphere right hemisphere of cerebellum primary visual cortex C1 segment medulla oblongata mucosa of transverse colon Top expressed in seminiferous tubule spermatocyte spermatid blastocyst morula secondary oocyte gastrula zygote primary oocyte mucosa of small intestine More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding GTP binding protein binding phosphatidylinositol binding protein homodimerization activity GDP binding identical protein binding GTPase activity molecular adaptor activity Cellular component cytoplasm microtubule cytoskeleton perinuclear region of cytoplasm sperm annulus spindle cell projection midbody cleavage furrow motile cilium cytoskeleton cilium stress fiber septin complex nucleus septin ring septin filament array Biological process cell cycle cell division sperm motility spermatogenesis cell differentiation flagellated sperm motility mitotic cytokinesis septin ring assembly cilium assembly cytoskeleton-dependent cytokinesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 124404 71089 Ensembl ENSG00000140623 ENSMUSG00000022542 UniProt Q8IYM1 n/a RefSeq (mRNA) NM_001154458 NM_144605 NM_027669 NM_029374 NM_001373945 RefSeq (protein) NP_001147930 NP_653206 n/a Location (UCSC) Chr 16: 4.78 – 4.79 Mb Chr 16: 4.8 – 4.82 Mb PubMed search
Wikidata
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Septin 12 is a protein that in humans is encoded by the SEPT12 gene.

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.

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 (July 2005). "Expression profiling the human septin gene family". The Journal of Pathology. 206 (3): 269–78. doi:10.1002/path.1789. PMID 15915442. S2CID 42206750.
• 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 (November 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. doi:10.5483/bmbrep.2007.40.6.973. PMID 18047794.
• Kuo YC, Lin YH, Chen HI, Wang YY, Chiou YW, Lin HH, Pan HA, Wu CM, Su SM, Hsu CC, Kuo PL (April 2012). "SEPT12 mutations cause male infertility with defective sperm annulus". Human Mutation. 33 (4): 710–9. doi:10.1002/humu.22028. PMID 22275165. S2CID 7923473.
• 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. Bibcode:2012PLoSO...734011L. 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 (May 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 (January 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.

External links

• Overview of all the structural information available in the PDB for UniProt: Q8IYM1 (Septin-12) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.