Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5413
Gene name Gene Name - the full gene name approved by the HGNC.	Septin 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SEPTIN5
Synonyms (NCBI Gene) Gene synonyms aliases	CDCREL, CDCREL-1, CDCREL1, H5, HCDCREL-1, PNUTL1, SEPT5, Septin-5
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal orga

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0003924	Function	GTPase activity	TAS	21563316
GO:0005198	Function	Structural molecule activity	TAS	9611266
GO:0005515	Function	Protein binding	IPI	10321247, 15214843, 16767699, 18330356, 24722188, 25416956, 28514442, 31515488, 32296183, 32814053
GO:0005525	Function	GTP binding	IEA
GO:0005886	Component	Plasma membrane	IDA	10321247
GO:0005940	Component	Septin ring	IBA	21873635
GO:0008021	Component	Synaptic vesicle	IBA	21873635
GO:0008021	Component	Synaptic vesicle	IDA	10321247
GO:0015630	Component	Microtubule cytoskeleton	IBA	21873635
GO:0016080	Process	Synaptic vesicle targeting	TAS	10321247
GO:0017157	Process	Regulation of exocytosis	IBA	21873635
GO:0017157	Process	Regulation of exocytosis	IMP	10321247
GO:0030534	Process	Adult behavior	ISS
GO:0031105	Component	Septin complex	IBA	21873635
GO:0031105	Component	Septin complex	ISS
GO:0032153	Component	Cell division site	IBA	21873635
GO:0034613	Process	Cellular protein localization	IBA	21873635
GO:0035176	Process	Social behavior	ISS
GO:0042802	Function	Identical protein binding	IPI	15214843, 24722188, 25416956
GO:0060090	Function	Molecular adaptor activity	IBA	21873635
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IBA	21873635
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	TAS	21563316

MIM	HGNC	e!Ensembl
602724	9164	ENSG00000184702

Protein

UniProt ID

Q99719

Protein name

Septin-5 (Cell division control-related protein 1) (CDCrel-1) (Peanut-like protein 1)

Protein function

Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity).

PDB

6WCU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00735	Septin	41 → 321	Septin	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in the CNS, as well as in heart and platelets (at protein level). {ECO:0000269|PubMed:12023038, ECO:0000269|PubMed:15915442}.

Sequence

MSTGLRYKSKLATPEDKQDIDKQYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTL
VHSLFLTDLYKDRKLLSAEERISQTVEILKHTVDIEEKGVKLKLTIVDTPGFGDAVNNTE
CWKPITDYVDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPVDVGFMKALHE
KVNIVPLIAKADCLVPSEIRKLKERIREEIDKFGIHVYQFPECDSDEDEDFKQQDRELKE
SAPFAVIGSNTVVEAKGQRVRGRLYPWGIVEVENQAHCDFVKLRNMLIRTHMHDLKDVTC
DVHYENYRAHCIQQMTSKLTQDSRMESPIPILPLPTPDAETEKLIRMKDEELRRMQEMLQ
RMKQQMQDQ

Sequence length

369

Interactions

View interactions

	KEGG
	Parkinson disease Pathways of neurodegeneration - multiple diseases

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID
Causal
Bernard soulier syndrome	Bernard-Soulier Syndrome, Bernard-Soulier Syndrome, Type B	rs121908061, rs121908063, rs121908065, rs267606849, rs5030764, rs121918036, rs121918037, rs28933377, rs28933378, rs121909750, rs121909752, rs730882059, rs587783648, rs1394634674, rs1555549041 View all (8 more)
Macrothrombocytopenia	Macrothrombocytopenia	rs121908063, rs5030764, rs121918037, rs80338835, rs80338834, rs80338829, rs121913655, rs80338831, rs121913656, rs80338826, rs80338828, rs587776808, rs80338827, rs121913657, rs876661302 View all (32 more)

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	Source
Unknown
Ovarian cancer	Ovarian cancer	Conditional KD of IL6 in the OCCA xenograft model delays tumor growth	GWAS, CBGDA
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.	GWAS, CBGDA
Coronary artery disease	Coronary artery disease		GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	35406633
Autism Spectrum Disorder	Associate	31500805
Breast Neoplasms	Associate	25287138
DiGeorge Syndrome	Associate	25539505
Esophageal Squamous Cell Carcinoma	Associate	24936140
Hypoadrenocorticism Familial	Stimulate	11078524
Neoplasms	Associate	25287138
Parkinson Disease	Associate	21731658
Retinitis	Associate	17625225
Schizophrenia	Associate	25539505, 31500805

SEPTIN5 (septin 5)