Homo sapiens Protein: SEPT12 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-236968.7 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | SEPT12 | ||||||||||||||||||
Protein Name | septin 12 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000379922 | ||||||||||||||||||
InnateDB Gene | IDBG-13096 (SEPT12) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). {ECO:0000250, ECO:0000305}. | ||||||||||||||||||
Subcellular Localization | Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Cell projection, cilium, flagellum. Note=At interphase, forms a filamentous structure in the cytoplasm. During anaphase, translocates to the central spindle region and to the midbody during cytokinesis. Found in the sperm annulus. | ||||||||||||||||||
Disease Associations | Spermatogenic failure 10 (SPGF10) [MIM:614822]: An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. {ECO:0000269PubMed:22275165}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Widely expressed. {ECO:0000269PubMed:15915442}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000038
Cell division protein GTP binding IPR002543 FtsK domain IPR006703 AIG1 IPR016491 Septin IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00735
PF01580 PF04548 |
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PRINTS | |||||||||||||||||||
PIRSF |
PIRSF006698
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SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q8IYM1 | ||||||||||||||||||
PhosphoSite | PhosphoSite- | ||||||||||||||||||
TrEMBL | K7EP92 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 124404 | ||||||||||||||||||
UniGene | Hs.126780 | ||||||||||||||||||
RefSeq | NP_001147930 | ||||||||||||||||||
HUGO | HGNC:26348 | ||||||||||||||||||
OMIM | 611562 | ||||||||||||||||||
CCDS | CCDS53987 | ||||||||||||||||||
HPRD | 08061 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC020663 AK058139 BC024017 BC035619 CH471112 DQ456996 DQ517531 EF620906 | ||||||||||||||||||
GenPept | AAH24017 AAH35619 ABE68946 ABF61438 ABR10901 BAB71681 EAW85265 | ||||||||||||||||||