Septin8 septin 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Septin8provided by MGI
Official Full Name: septin 8provided by MGI
Primary source: MGI:MGI:894310
See related: Ensembl:ENSMUSG00000018398 AllianceGenome:MGI:894310
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: Sepl; Sept8
Summary: Predicted to enable GTPase activity; SNARE binding activity; and molecular adaptor activity. Predicted to be involved in several processes, including regulation of SNARE complex assembly; regulation of intracellular protein transport; and regulation of protein stability. Located in myelin sheath. Part of septin complex. Is expressed in central nervous system; cochlea; dermis; testis; and turbinate bone primordium. Orthologous to human SEPTIN8 (septin 8). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in cortex adult (RPKM 43.1), cerebellum adult (RPKM 41.9) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 31.96 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (53410224..53440432)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (53519397..53549605)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Palmitoylated Sept8-204 modulates learning and anxiety by regulating filopodia arborization and actin dynamics.
Title: Palmitoylated Sept8-204 modulates learning and anxiety by regulating filopodia arborization and actin dynamics.
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.
Impaired Platelet Function in Sept8-Deficient Mice In Vitro.
Title: Impaired Platelet Function in Sept8-Deficient Mice In Vitro.
SEPT8 modulates beta-amyloidogenic processing of APP through a mechanism affecting the intracellular sorting and accumulation of BACE1.
Title: SEPT8 modulates β-amyloidogenic processing of APP by affecting the sorting and accumulation of BACE1.
Signaling protein ras-related protein rab-7A and septin 8 levels were significantly higher in hippocampus of poor contextual fear conditioning extinguishers.
Title: Proteins linked to extinction in contextual fear conditioning in the C57BL/6J mouse.
Septin 8 is present in specific location within retina. Disappearance of septin 8 in nuclei of photoreceptor cells is concomitant with nuclear DNA fragmentation.
Title: Localization of septin 8 in murine retina, and spatiotemporal expression of septin 8 in a murine model of photoreceptor cell degeneration.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
involved_in cytoskeleton-dependent cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of SNARE complex assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of SNARE complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of intracellular protein transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of intracellular protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein stability	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein stability	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cell division site	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in myelin sheath	HDA more info	PubMed
located_in myelin sheath	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	ISO Inferred from Sequence Orthology more info
located_in presynapse	ISS Inferred from Sequence or Structural Similarity more info
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
is_active_in septin ring	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: septin-8

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.

mRNA and Protein(s)

NM_001252332.2 → NP_001239261.1 septin-8 isoform 2

See identical proteins and their annotated locations for NP_001239261.1

Status: VALIDATED

Source sequence(s)

AL596095

Consensus CDS

CCDS56768.1

UniProtKB/Swiss-Prot

B1AQY7, Q80YC7, Q8CHH9, Q9ESF7

Related

ENSMUSP00000104615.2, ENSMUST00000108987.8

Conserved Domains (1) summary

cd01850
Location:41 → 309

CDC_Septin; CDC/Septin GTPase family
NM_001252333.2 → NP_001239262.1 septin-8 isoform 3

See identical proteins and their annotated locations for NP_001239262.1

Status: VALIDATED

Source sequence(s)

AL596095

UniProtKB/Swiss-Prot

Q8CHH9

Conserved Domains (1) summary

cd01850
Location:41 → 307

CDC_Septin; CDC/Septin GTPase family
NM_001347496.2 → NP_001334425.1 septin-8 isoform 4

Status: VALIDATED

Source sequence(s)

AL596095

Consensus CDS

CCDS83805.1

UniProtKB/TrEMBL

B1AQZ0

Related

ENSMUSP00000113038.2, ENSMUST00000121334.8
NM_001361968.2 → NP_001348897.1 septin-8 isoform 5

Status: VALIDATED

Source sequence(s)

AL596095

Conserved Domains (1) summary

cd01850
Location:41 → 307

CDC_Septin; CDC/Septin GTPase family
NM_001361969.2 → NP_001348898.1 septin-8 isoform 6

Status: VALIDATED

Source sequence(s)

AL596095

Conserved Domains (1) summary

cd01850
Location:1 → 247

CDC_Septin; CDC/Septin GTPase family
NM_033144.3 → NP_149156.1 septin-8 isoform 1

See identical proteins and their annotated locations for NP_149156.1

Status: VALIDATED

Source sequence(s)

AL596095

Consensus CDS

CCDS48794.1

UniProtKB/Swiss-Prot

Q8CHH9

Related

ENSMUSP00000112920.2, ENSMUST00000117061.8

Conserved Domains (1) summary

cd01850
Location:41 → 309

CDC_Septin; CDC/Septin GTPase family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

53410224..53440432

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532633.4 → XP_006532696.1 septin-8 isoform X1

Conserved Domains (1) summary

cd01850
Location:41 → 309

CDC_Septin; CDC/Septin GTPase family
XM_006532635.5 → XP_006532698.1 septin-8 isoform X3

UniProtKB/TrEMBL

B1AQY9

Related

ENSMUSP00000120427.2, ENSMUST00000147912.2

Conserved Domains (1) summary

cd01850
Location:41 → 309

CDC_Septin; CDC/Septin GTPase family
XM_017314392.3 → XP_017169881.1 septin-8 isoform X2

Conserved Domains (1) summary

cd01850
Location:41 → 307

CDC_Septin; CDC/Septin GTPase family
XM_030245721.2 → XP_030101581.1 septin-8 isoform X5

Conserved Domains (1) summary

cd01850
Location:41 → 307

CDC_Septin; CDC/Septin GTPase family
XM_011248834.4 → XP_011247136.1 septin-8 isoform X4

UniProtKB/TrEMBL

B7ZC46

Related

ENSMUSP00000113775.3, ENSMUST00000120878.9

Conserved Domains (1) summary

cd01850
Location:41 → 307

CDC_Septin; CDC/Septin GTPase family
XM_030245722.2 → XP_030101582.1 septin-8 isoform X6

Conserved Domains (1) summary

cd01850
Location:1 → 249

CDC_Septin; CDC/Septin GTPase family