Entity Details

Primary name SEP12_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IYM1
EntryNameSEP12_HUMAN
FullNameSeptin-12
TaxID9606
Evidenceevidence at protein level
Length358
SequenceStatuscomplete
DateCreated2007-12-04
DateModified2021-06-02

Ontological Relatives

GenesSEPTIN12

GO terms

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GOName
GO:0001725 stress fiber
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005634 nucleus
GO:0005819 spindle
GO:0005940 septin ring
GO:0007283 spermatogenesis
GO:0015630 microtubule cytoskeleton
GO:0019003 GDP binding
GO:0030154 cell differentiation
GO:0030496 midbody
GO:0031105 septin complex
GO:0032153 cell division site
GO:0032154 cleavage furrow
GO:0034613 cellular protein localization
GO:0035091 phosphatidylinositol binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0048471 perinuclear region of cytoplasm
GO:0060090 molecular adaptor activity
GO:0061640 cytoskeleton-dependent cytokinesis
GO:0097227 sperm annulus

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR016491 SeptinFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030379 Septin-type guanine nucleotide-binding (G) domainDomainDomain

Diseases

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Disease IDSourceNameDescription
614822 OMIMSpermatogenic failure 10 (SPGF10)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. The disease is caused by variants affecting the gene represented in this entry.