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    Septin6 septin 6 [ Mus musculus (house mouse) ]

    Gene ID: 56526, updated on 28-Oct-2024

    Summary

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    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, Oct 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

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    See Septin6 in Genome Data Viewer
    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_000086.8Genomic Context describing neighboring genes Neighboring gene ubiquitin-conjugating enzyme E2A Neighboring gene STARR-positive B cell enhancer ABC_E11047 Neighboring gene NF-kappaB repressing factor Neighboring gene predicted gene 15008 Neighboring gene STARR-seq mESC enhancer starr_47007 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:34520906-34521122 Neighboring gene sosondowah ankyrin repeat domain family member D Neighboring gene predicted gene, 26099

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Septin 6 regulates engraftment and lymphoid differentiation potential of murine long-term hematopoietic stem cells. Senger K, et al. Exp Hematol, 2017 Nov. PMID 28751190
    2. The pathobiology of the septin gene family. Hall PA, et al. J Pathol, 2004 Nov. PMID 15495264
    3. Septins: the fourth component of the cytoskeleton. Mostowy S, et al. Nat Rev Mol Cell Biol, 2012 Feb 8. PMID 22314400
    4. Mammalian septin function in hemostasis and beyond. Martinez C, et al. Exp Biol Med (Maywood), 2004 Dec. PMID 15564437
    5. Septin functions in organ system physiology and pathology. Dolat L, et al. Biol Chem, 2014 Feb. PMID 24114910, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. Significant level of SEPT6 expression was found in heart in a developmentally regulated fashion.
      Title: Probing the role of septins in cardiomyocytes.
    6. 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.
    Submit: New GeneRIF Correction

    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

    Homology

    Clone Names

    • KIAA0128

    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)

    1. 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]

    2. 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]

    3. 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

    4. 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

    5. 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

    6. 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

    7. 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

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      36174925..36253711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R1T4.4 GenPept UniProtKB/Swiss-Prot:Q9R1T4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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