Entity Details

Primary name SEPT9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UHD8
EntryNameSEPT9_HUMAN
FullNameSeptin-9
TaxID9606
Evidenceevidence at protein level
Length586
SequenceStatuscomplete
DateCreated2004-12-21
DateModified2021-06-02

Ontological Relatives

GenesSEPTIN9

GO terms

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GOName
GO:0001725 stress fiber
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005874 microtubule
GO:0005930 axoneme
GO:0005940 septin ring
GO:0015629 actin cytoskeleton
GO:0015630 microtubule cytoskeleton
GO:0031105 septin complex
GO:0032153 cell division site
GO:0034613 cellular protein localization
GO:0045296 cadherin binding
GO:0048471 perinuclear region of cytoplasm
GO:0060090 molecular adaptor activity
GO:0061640 cytoskeleton-dependent cytokinesis
GO:0097730 non-motile cilium
GO:1902857 positive regulation of non-motile cilium assembly

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR016491 SeptinFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030379 Septin-type guanine nucleotide-binding (G) domainDomainDomain
IPR030645 Septin 9FamilyFamily

Diseases

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Disease IDSourceNameDescription
162100 OMIMHereditary neuralgic amyotrophy (HNA)Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. The disease is caused by variants affecting the gene represented in this entry.