Septin6 septin 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Septin6provided by MGI
Official Full Name: septin 6provided by MGI
Primary source: MGI:MGI:1888939
See related: Ensembl:ENSMUSG00000050379 AllianceGenome:MGI:1888939
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: Sep6; Sept6; mKIAA0128; 2810035H17Rik; C920001C06Rik
Summary: Predicted to enable GTPase activity and molecular adaptor activity. Predicted to be involved in cilium assembly; cytoskeleton-dependent cytokinesis; and protein localization. Located in several cellular components, including cleavage furrow; septin cytoskeleton; and synaptic vesicle. Part of septin complex. Is active in presynapse. Is expressed in alimentary system; central nervous system; genitourinary system; sensory organ; and thymus. Orthologous to human SEPTIN6 (septin 6). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in thymus adult (RPKM 14.7), CNS E18 (RPKM 10.5) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A3.3; X 21.32 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (36174925..36253711, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (36911272..36990036, complement)

Chromosome X - NC_000086.8 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 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?

LSD1-mediated stabilization of SEPT6 protein activates the TGF-beta1 pathway and regulates non-small-cell lung cancer metastasis.
Title: LSD1-mediated stabilization of SEPT6 protein activates the TGF-β1 pathway and regulates non-small-cell lung cancer metastasis.
Sept6 and Pigx might participate in the pathogenesis of high blood pressure.
Title: Regulatory network analysis of hypertension and hypotension microarray data from mouse model.
Data suggest a regulatory role for septin 6 in long-term hematopoietic stem cells (HSCs) function and lymphoid lineage differentiation.
Title: Septin 6 regulates engraftment and lymphoid differentiation potential of murine long-term hematopoietic stem cells.
Data demonstrate that the septin cytoskeleton is an integral component of the myelin sheath, and protein components such as septin 6 interact with distinct myelin constituents such as MAL.
Title: The septin cytoskeleton in myelinating glia.
Significant level of SEPT6 expression was found in heart in a developmentally regulated fashion.
Title: Probing the role of septins in cardiomyocytes.
Sept6 did not alter the phenotype of myeloproliferative disease induced by MLL-SEPT6, thus suggesting that Sept6 does not function as a tumor suppressor.
Title: Disruption of Sept6, a fusion partner gene of MLL, does not affect ontogeny, leukemogenesis induced by MLL-SEPT6, or phenotype induced by the loss of Sept4.

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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 (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BE121346 (e-PCR)
- UniSTS:248071

BE457710 (e-PCR)
- UniSTS:209514

AI451458 (e-PCR)
- UniSTS:160879

NoName (e-PCR)
- UniSTS:238014

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 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 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
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 spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon terminus	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	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	IEA Inferred from Electronic Annotation more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	IEA Inferred from Electronic Annotation more info
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
located_in septin collar	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 septin ring	IDA Inferred from Direct Assay more info	PubMed
located_in sperm annulus	IEA Inferred from Electronic Annotation more info
located_in sperm annulus	ISO Inferred from Sequence Orthology more info
located_in spindle	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: septin-6

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_001177323.2 → NP_001170794.1 septin-6 isoform 3

See identical proteins and their annotated locations for NP_001170794.1

Status: VALIDATED

Source sequence(s)

AK048455, BM245544, BY776992

UniProtKB/TrEMBL

Q3UUU4

Conserved Domains (2) summary

cd01850
Location:38 → 306

CDC_Septin; CDC/Septin GTPase family

COG5019
Location:20 → 372

CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
NM_001177324.1 → NP_001170795.1 septin-6 isoform 1

See identical proteins and their annotated locations for NP_001170795.1

Status: VALIDATED

Source sequence(s)

AK012858, AK162755, AK172894, BY776992, CJ312154

Consensus CDS

CCDS53051.1

UniProtKB/Swiss-Prot

A2A3V9, A2A3W0, Q3TRH9, Q3TUA2, Q542H3, Q6A0C4, Q8C2L2, Q8C848, Q91XH2, Q9CZ94, Q9R1T4

UniProtKB/TrEMBL

Q3UUU4

Related

ENSMUSP00000110894.4, ENSMUST00000115239.10

Conserved Domains (2) summary

cd01850
Location:39 → 307

CDC_Septin; CDC/Septin GTPase family

COG5019
Location:21 → 373

CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
NM_001253706.1 → NP_001240635.1 septin-6 isoform 4

See identical proteins and their annotated locations for NP_001240635.1

Status: VALIDATED

Source sequence(s)

AK172894, BY776992, CN459422

Consensus CDS

CCDS57749.1

UniProtKB/TrEMBL

Q3UUU4

Related

ENSMUSP00000054034.5, ENSMUST00000053456.11

Conserved Domains (1) summary

cd01850
Location:39 → 307

CDC_Septin; CDC/Septin GTPase family
NM_001359140.1 → NP_001346069.1 septin-6 isoform 4

Status: VALIDATED

Source sequence(s)

AL450399

Consensus CDS

CCDS57749.1

UniProtKB/TrEMBL

Q3UUU4

Conserved Domains (1) summary

cd01850
Location:39 → 307

CDC_Septin; CDC/Septin GTPase family
NM_001359141.1 → NP_001346070.1 septin-6 isoform 5

Status: VALIDATED

Source sequence(s)

AL450399

UniProtKB/TrEMBL

Q3UUU4

Conserved Domains (1) summary

cd01850
Location:39 → 298

CDC_Septin; CDC/Septin GTPase family
NM_001359142.1 → NP_001346071.1 septin-6 isoform 6

Status: VALIDATED

Source sequence(s)

AL450399

UniProtKB/TrEMBL

Q3UUU4

Conserved Domains (1) summary

cd01850
Location:39 → 298

CDC_Septin; CDC/Septin GTPase family
NM_019942.5 → NP_064326.2 septin-6 isoform 2

See identical proteins and their annotated locations for NP_064326.2

Status: VALIDATED

Source sequence(s)

AK048455, AK160884, BM245544, BY776992

Consensus CDS

CCDS30066.1

UniProtKB/TrEMBL

Q3UUU4

Related

ENSMUSP00000062014.8, ENSMUST00000060474.14

Conserved Domains (2) summary

cd01850
Location:39 → 307

CDC_Septin; CDC/Septin GTPase family

COG5019
Location:21 → 373

CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

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_000086.8 Reference GRCm39 C57BL/6J

Range

36174925..36253711 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036162051.1 → XP_036017944.1 septin-6 isoform X4

UniProtKB/TrEMBL

Q3UUU4

Conserved Domains (1) summary

cd01850
Location:39 → 298

CDC_Septin; CDC/Septin GTPase family
XM_030251429.2 → XP_030107289.1 septin-6 isoform X5

UniProtKB/TrEMBL

Q3UUU4

Conserved Domains (1) summary

cd01850
Location:39 → 298

CDC_Septin; CDC/Septin GTPase family
XM_006541388.4 → XP_006541451.1 septin-6 isoform X1

UniProtKB/TrEMBL

Q3UUU4

Conserved Domains (1) summary

cd01850
Location:39 → 307

CDC_Septin; CDC/Septin GTPase family
XM_006541390.4 → XP_006541453.1 septin-6 isoform X2

See identical proteins and their annotated locations for XP_006541453.1

UniProtKB/TrEMBL

Q3UUU4

Conserved Domains (1) summary

cd01850
Location:39 → 307

CDC_Septin; CDC/Septin GTPase family
XM_006541391.4 → XP_006541454.1 septin-6 isoform X3

UniProtKB/TrEMBL

Q3UUU4

Conserved Domains (1) summary

cd01850
Location:39 → 298

CDC_Septin; CDC/Septin GTPase family