Septin5 septin 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Septin5provided by MGI
Official Full Name: septin 5provided by MGI
Primary source: MGI:MGI:1195461
See related: Ensembl:ENSMUSG00000072214 AllianceGenome:MGI:1195461
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sept5; Pnutl1; Cdcrel1; Cdcrel-1
Summary: Predicted to enable several functions, including GTPase activity; guanyl ribonucleotide binding activity; and protein homodimerization activity. Involved in adult behavior; regulation of synaptic vesicle docking; and social behavior. Located in cell cortex; synaptic vesicle; and terminal bouton. Part of septin complex. Is active in calyx of Held. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Orthologous to human SEPTIN5 (septin 5). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in cortex adult (RPKM 236.3), large intestine adult (RPKM 199.0) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A3; 16 11.53 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (18440561..18448688, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (18621811..18629938, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Palmitoylation is required for Sept8-204 and Sept5 to form vesicle-like structure and colocalize with synaptophysin.
Title: Palmitoylation is required for Sept8-204 and Sept5 to form vesicle-like structure and colocalize with synaptophysin.
Downregulation of SEPTIN5 inhibits prostate cancer progression by increasing CD8[+] T cell infiltration.
Title: Downregulation of SEPTIN5 inhibits prostate cancer progression by increasing CD8(+) T cell infiltration.
Septin-5 and -7-IgGs: Neurologic, Serologic, and Pathophysiologic Characteristics.
Title: Septin-5 and -7-IgGs: Neurologic, Serologic, and Pathophysiologic Characteristics.
S327 phosphorylation of the presynaptic protein SEPTIN5 increases in the early stages of neurofibrillary pathology and alters the functionality of SEPTIN5.
Title: S327 phosphorylation of the presynaptic protein SEPTIN5 increases in the early stages of neurofibrillary pathology and alters the functionality of SEPTIN5.
Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of APP C-Terminal Fragments and the Levels of Abeta.
Title: Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of APP C-Terminal Fragments and the Levels of Aβ.
Congenic knockout mice and mice overexpressing Sept5 in the hippocampus or amygdala were indistinguishable from control mice in novelty and olfactory responses, anxiety or motor activity
Title: Alterations of social interaction through genetic and environmental manipulation of the 22q11.2 gene Sept5 in the mouse brain.
Report SEPT4/5/7 expression in mouse cochlea and roles in auditory function.
Title: Localization of septin proteins in the mouse cochlea.
The result of this study suggested that Septin 5 is a core molecular substrate that differentiates distinct release modalities at the central synapse.
Title: Septins regulate developmental switching from microdomain to nanodomain coupling of Ca(2+) influx to neurotransmitter release at a central synapse.
Here, we showed existence of two Sept5 isoforms in the mouse and studied their tissue and developmental expressions that would be helpful for exploring isoform specific function.
Title: Neuronal expression of two isoforms of mouse Septin 5.
Sept5 deficiency exerts pleiotropic effects on a select set of affective behaviors and cognitive processes.
Title: Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sept5 (e-PCR), detects polymorphism
- UniSTS:265746

Sept5 (e-PCR), detects polymorphism
- UniSTS:507214

Gp1bb (e-PCR), detects polymorphism
- UniSTS:143234

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GDP binding	ISO Inferred from Sequence Orthology more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	ISO Inferred from Sequence Orthology more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables syntaxin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in adult behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton-dependent cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of exocytosis	ISO Inferred from Sequence Orthology more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of exocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic vesicle docking	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle docking	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in social behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon terminus	IDA Inferred from Direct Assay more info	PubMed
is_active_in calyx of Held	IDA Inferred from Direct Assay more info	PubMed
is_active_in calyx of Held	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell division site	IBA Inferred from Biological aspect of Ancestor more info
located_in cleavage furrow	ISO Inferred from Sequence Orthology more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IDA Inferred from Direct Assay more info	PubMed
part_of septin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of septin complex	IDA Inferred from Direct Assay more info	PubMed
part_of septin complex	ISO Inferred from Sequence Orthology more info
is_active_in septin ring	IBA Inferred from Biological aspect of Ancestor more info
located_in stress fiber	ISO Inferred from Sequence Orthology more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in terminal bouton	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: septin-5

Names: cell division control-related protein 1; peanut-like 1 homolog; peanut-like protein 1

NP_998779.2

EC 3.1.5.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.