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    SEPTIN11 septin 11 [ Homo sapiens (human) ]

    Gene ID: 55752, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SEPTIN11provided by HGNC
    Official Full Name
    septin 11provided by HGNC
    Primary source
    HGNC:HGNC:25589
    See related
    Ensembl:ENSG00000138758 MIM:612887; AllianceGenome:HGNC:25589
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SEPT11; Septin-11
    Summary
    SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]
    Expression
    Ubiquitous expression in placenta (RPKM 24.6), fat (RPKM 23.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SEPTIN11 in Genome Data Viewer
    Location:
    4q21.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (76949752..77040154)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (80290475..80380967)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (77870905..77959768)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15496 Neighboring gene uncharacterized LOC105377294 Neighboring gene sosondowah ankyrin repeat domain family member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15498 Neighboring gene thioredoxin pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21633 Neighboring gene uncharacterized LOC105377291 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:77936428-77936960 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:77944028-77944647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21634 Neighboring gene cyclin I Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15500 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:77997338-77998308 Neighboring gene ribosomal protein L7 pseudogene 17

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Aberrant septin 11 is associated with sporadic frontotemporal lobar degeneration. Gozal YM, et al. Mol Neurodegener, 2011 Nov 29. PMID 22126117, Free PMC Article
    2. Downregulation of SEPTIN11 inhibits endometrial epithelial cell adhesive function in patients with elevated peripheral blood natural killer cell counts. Li W, et al. Reprod Biomed Online, 2023 Aug. PMID 37349244
    3. Human endothelial and platelet septin SEPT11: cloning of novel variants and characterisation of interaction partners. Bartsch I, et al. Thromb Haemost, 2010 Dec. PMID 20978712
    4. Analysis of mammalian septin expression in human malignant brain tumors. Kim DS, et al. Neoplasia, 2004 Mar-Apr. PMID 15140406, Free PMC Article
    5. Biochemical and cell biological characterization of a mammalian septin, Sept11. Hanai N, et al. FEBS Lett, 2004 Jun 18. PMID 15196925

    See all (101) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of SEPTIN11 inhibits endometrial epithelial cell adhesive function in patients with elevated peripheral blood natural killer cell counts.
      Title: Downregulation of SEPTIN11 inhibits endometrial epithelial cell adhesive function in patients with elevated peripheral blood natural killer cell counts.
    2. Septin11 promotes hepatocellular carcinoma cell motility by activating RhoA to regulate cytoskeleton and cell adhesion.
      Title: Septin11 promotes hepatocellular carcinoma cell motility by activating RhoA to regulate cytoskeleton and cell adhesion.
    3. findings support a role for SEPT11 in lipid traffic and metabolism in adipocytes and open new avenues for research on the control of lipid storage in obesity and insulin resistance.
      Title: The cytoskeletal protein septin 11 is associated with human obesity and is involved in adipocyte lipid storage and metabolism.
    4. Authors report here that the septins SEPT2, -9, -11, and probably -7 form fibrillar structures around the chlamydial inclusion.
      Title: Septins arrange F-actin-containing fibers on the Chlamydia trachomatis inclusion and are required for normal release of the inclusion by extrusion.
    5. The proteomic discovery of insoluble SEPT11 accumulation in FTLD-U, along with novel pathological associations, highlights a role for this cytoskeleton-associated protein in the pathogenesis of this complex disorder.
      Title: Aberrant septin 11 is associated with sporadic frontotemporal lobar degeneration.
    6. the role of SEPT2 and SEPT11 in the InlB-Met interactions
      Title: A role for septins in the interaction between the Listeria monocytogenes INVASION PROTEIN InlB and the Met receptor.
    7. Cloned and characterised novel SEPT11 variants and investigated interaction partners of SEPT11 in platelets and human umbilical vein endothelial cells.
      Title: Human endothelial and platelet septin SEPT11: cloning of novel variants and characterisation of interaction partners.
    8. LOH in genes around D4S2964, including ARD1B and SEPT11 may play an important role in hepatocellular carcinoma development and progression
      Title: LOH analysis of genes around D4S2964 identifies ARD1B as a prognostic predictor of hepatocellular carcinoma.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. SEPT2 is essential for the InlB-mediated entry of Listeria, but SEPT11 is not, which distinguishes the roles of different mammalian septins
      Title: Septin 11 restricts InlB-mediated invasion by Listeria.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    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 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 synapse organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic specialization of symmetric synapse IEA
    Inferred from Electronic Annotation
    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 
    part_of septin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in septin ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    septin-11
    Names
    epididymis secretory sperm binding protein

    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_001306147.2 → NP_001293076.1  septin-11 isoform 1

      See identical proteins and their annotated locations for NP_001293076.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK027633, AK302700, BC008083, BC063615, CA422047, CX870938, DA413789, DA497699, DA803364
      Consensus CDS
      CCDS77931.1
      UniProtKB/TrEMBL
      D6RDU5
      Related
      ENSP00000422896.1, ENST00000510515.5
      Conserved Domains (1) summary
      cd01850
      Location:48 → 316
      CDC_Septin; CDC/Septin GTPase family

    2. NM_018243.4 → NP_060713.1  septin-11 isoform 2

      See identical proteins and their annotated locations for NP_060713.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the 5' coding region that results in use of an alternate start codon compared to variant 1. It encodes isoform 2, which has a novel N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI580485, AI741944, AK001711, AK027633, AK124592, BC008083, BQ021538, BQ221260, CA394082
      Consensus CDS
      CCDS34018.1
      UniProtKB/Swiss-Prot
      B7Z7Z6, E9KL32, Q4W5G1, Q7L4N1, Q96SP1, Q9NVA2, Q9UFY9
      UniProtKB/TrEMBL
      A0A384P5S0, D6RDU5
      Related
      ENSP00000264893.6, ENST00000264893.11
      Conserved Domains (1) summary
      cd01850
      Location:38 → 306
      CDC_Septin; CDC/Septin GTPase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      76949752..77040154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008401.2 → XP_016863890.1  septin-11 isoform X2

      UniProtKB/TrEMBL
      D6RDU5

    2. XM_017008402.2 → XP_016863891.1  septin-11 isoform X3

      UniProtKB/TrEMBL
      D6RDU5
      Conserved Domains (1) summary
      cd01850
      Location:48 → 316
      CDC_Septin; CDC/Septin GTPase family

    3. XM_017008403.2 → XP_016863892.1  septin-11 isoform X4

      UniProtKB/TrEMBL
      D6RDU5
      Conserved Domains (1) summary
      cd01850
      Location:38 → 306
      CDC_Septin; CDC/Septin GTPase family

    4. XM_017008404.2 → XP_016863893.1  septin-11 isoform X5

      UniProtKB/TrEMBL
      D6RDU5
      Related
      ENSP00000424925.1, ENST00000505788.5
      Conserved Domains (1) summary
      cd01850
      Location:38 → 306
      CDC_Septin; CDC/Septin GTPase family

    5. XM_047415959.1 → XP_047271915.1  septin-11 isoform X1

    6. XM_047415960.1 → XP_047271916.1  septin-11 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      80290475..80380967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350491.1 → XP_054206466.1  septin-11 isoform X4

    2. XM_054350492.1 → XP_054206467.1  septin-11 isoform X5

    3. XM_054350493.1 → XP_054206468.1  septin-11 isoform X6

    4. XM_054350488.1 → XP_054206463.1  septin-11 isoform X1

    5. XM_054350489.1 → XP_054206464.1  septin-11 isoform X2

    6. XM_054350490.1 → XP_054206465.1  septin-11 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVA2.3 GenPept UniProtKB/Swiss-Prot:Q9NVA2

    Gene LinkOut

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

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