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    SEPTIN11 septin 11 [ Homo sapiens (human) ]

    Gene ID: 55752, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    septin-11
    Names
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001306147.2NP_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:48316
      CDC_Septin; CDC/Septin GTPase family
    2. NM_018243.4NP_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:38306
      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_017008401.2XP_016863890.1  septin-11 isoform X2

      UniProtKB/TrEMBL
      D6RDU5
    2. XM_017008402.2XP_016863891.1  septin-11 isoform X3

      UniProtKB/TrEMBL
      D6RDU5
      Conserved Domains (1) summary
      cd01850
      Location:48316
      CDC_Septin; CDC/Septin GTPase family
    3. XM_017008403.2XP_016863892.1  septin-11 isoform X4

      UniProtKB/TrEMBL
      D6RDU5
      Conserved Domains (1) summary
      cd01850
      Location:38306
      CDC_Septin; CDC/Septin GTPase family
    4. XM_017008404.2XP_016863893.1  septin-11 isoform X5

      UniProtKB/TrEMBL
      D6RDU5
      Related
      ENSP00000424925.1, ENST00000505788.5
      Conserved Domains (1) summary
      cd01850
      Location:38306
      CDC_Septin; CDC/Septin GTPase family
    5. XM_047415959.1XP_047271915.1  septin-11 isoform X1

      UniProtKB/TrEMBL
      D6RDU5
    6. XM_047415960.1XP_047271916.1  septin-11 isoform X6

      UniProtKB/TrEMBL
      D6RDU5

    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_054350491.1XP_054206466.1  septin-11 isoform X4

      UniProtKB/TrEMBL
      D6RDU5
    2. XM_054350492.1XP_054206467.1  septin-11 isoform X5

      UniProtKB/TrEMBL
      D6RDU5
    3. XM_054350493.1XP_054206468.1  septin-11 isoform X6

      UniProtKB/TrEMBL
      D6RDU5
    4. XM_054350488.1XP_054206463.1  septin-11 isoform X1

      UniProtKB/TrEMBL
      D6RDU5
    5. XM_054350489.1XP_054206464.1  septin-11 isoform X2

      UniProtKB/TrEMBL
      D6RDU5
    6. XM_054350490.1XP_054206465.1  septin-11 isoform X3

      UniProtKB/TrEMBL
      D6RDU5