Homo sapiens Protein: SEPT12
Summary
InnateDB Protein IDBP-13098.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SEPT12
Protein Name septin 12
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000268231
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.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019003 GDP binding
GO:0035091 phosphatidylinositol binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0007049 cell cycle
GO:0051301 cell division
Cellular Component
GO:0001725 stress fiber
GO:0005819 spindle
GO:0015630 microtubule cytoskeleton
GO:0030496 midbody
GO:0031105 septin complex
GO:0032154 cleavage furrow
GO:0048471 perinuclear region of cytoplasm
GO:0097227 sperm annulus
Protein Structure and Domains
PDB ID
InterPro IPR000038 Cell division protein GTP binding
IPR006703 AIG1
IPR016491 Septin
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00735
PF04548
PRINTS
PIRSF PIRSF006698
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_653206
HUGO HGNC:26348
OMIM 611562
CCDS CCDS10522
HPRD 08061
IMGT
EMBL AC020663 AK058139 BC024017 BC035619 CH471112 DQ456996 DQ517531 EF620906
GenPept AAH24017 AAH35619 ABE68946 ABF61438 ABR10901 BAB71681 EAW85265