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    SEPTIN8 septin 8 [ Homo sapiens (human) ]

    Gene ID: 23176, updated on 17-Jun-2019

    Summary

    Official Symbol
    SEPTIN8provided by HGNC
    Official Full Name
    septin 8provided by HGNC
    Primary source
    HGNC:HGNC:16511
    See related
    Ensembl:ENSG00000164402 MIM:608418
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SEP2; SEPT8
    Summary
    This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in brain (RPKM 43.2), urinary bladder (RPKM 16.3) and 22 other tissues See more
    Orthologs

    Genomic context

    See SEPTIN8 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (132750819..132778216, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (132086509..132113976, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379176 Neighboring gene interleukin 4 Neighboring gene kinesin family member 3A Neighboring gene cyclin I family member 2 Neighboring gene sosondowah ankyrin repeat domain family member A Neighboring gene laforin-like Neighboring gene shroom family member 1

    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

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of septin 8 (SEPT8) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
      Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
      Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0202

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cytoskeleton-dependent cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of SNARE complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    presynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    septin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    septin ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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_001098811.2NP_001092281.1  septin-8 isoform a

      See identical proteins and their annotated locations for NP_001092281.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF440761, AF440762, BU739074
      Consensus CDS
      CCDS43358.1
      UniProtKB/Swiss-Prot
      Q92599
      Related
      ENSP00000367991.2, ENST00000378719.7
      Conserved Domains (1) summary
      cd01850
      Location:41309
      CDC_Septin; CDC/Septin GTPase family
    2. NM_001098812.2NP_001092282.1  septin-8 isoform c

      See identical proteins and their annotated locations for NP_001092282.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region compared to variant 1. The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC004775, AF179995, AF440761, AK057797
      Consensus CDS
      CCDS43359.1
      UniProtKB/Swiss-Prot
      Q92599
      Related
      ENSP00000394766.2, ENST00000458488.2
      Conserved Domains (1) summary
      cd01850
      Location:41309
      CDC_Septin; CDC/Septin GTPase family
    3. NM_001098813.1NP_001092283.1  septin-8 isoform d

      See identical proteins and their annotated locations for NP_001092283.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and translation termination at an alternate stop codon. The resulting isoform (d) is shorter at the N- and C-termini compared to isoform a.
      Source sequence(s)
      AC004775, AF179995, AF440763, DA261871
      Consensus CDS
      CCDS47262.1
      UniProtKB/Swiss-Prot
      Q92599
      Related
      ENSP00000399840.1, ENST00000448933.5
      Conserved Domains (1) summary
      cd01850
      Location:1249
      CDC_Septin; CDC/Septin GTPase family
    4. NM_001300798.2NP_001287727.1  septin-8 isoform e

      See identical proteins and their annotated locations for NP_001287727.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate splice site in the 5' coding region and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (e) lacks two internal aa and has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC004775, AF179995, AI087126, BC140759
      Consensus CDS
      CCDS75298.1
      UniProtKB/Swiss-Prot
      Q92599
      UniProtKB/TrEMBL
      A6NFQ9, B7ZVZ1
      Related
      ENSP00000367973.1, ENST00000378701.5
      Conserved Domains (1) summary
      cd01850
      Location:41307
      CDC_Septin; CDC/Septin GTPase family
    5. NM_001300799.2NP_001287728.1  septin-8 isoform f

      See identical proteins and their annotated locations for NP_001287728.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has an alternate splice site in the 5' coding region, lacks a portion of the 3' coding region and differs in the 3' UTR, compared to variant 1. The resulting isoform (f) lacks two internal aa and is shorter at the C-terminus compared to isoform a.
      Source sequence(s)
      AC004775, AF179995, AI087126, BC140759
      UniProtKB/Swiss-Prot
      Q92599
      UniProtKB/TrEMBL
      B7ZVZ1
      Conserved Domains (1) summary
      cd01850
      Location:41307
      CDC_Septin; CDC/Septin GTPase family
    6. NM_015146.2NP_055961.1  septin-8 isoform b

      See identical proteins and their annotated locations for NP_055961.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and lacks a portion of the 3' coding region compared to variant 1. The resulting isoform (b) is shorter at the C-terminus compared to isoform a.
      Source sequence(s)
      AC004775, AF179995, AF440761
      Consensus CDS
      CCDS43360.1
      UniProtKB/Swiss-Prot
      Q92599
      Related
      ENSP00000296873.7, ENST00000296873.11
      Conserved Domains (1) summary
      cd01850
      Location:41309
      CDC_Septin; CDC/Septin GTPase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      132750819..132778216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271931.3XP_005271988.1  septin-8 isoform X4

      See identical proteins and their annotated locations for XP_005271988.1

      Conserved Domains (1) summary
      cd01850
      Location:1249
      CDC_Septin; CDC/Septin GTPase family
    2. XM_017009256.1XP_016864745.1  septin-8 isoform X6

      Conserved Domains (1) summary
      cd01850
      Location:1247
      CDC_Septin; CDC/Septin GTPase family
    3. XM_017009255.1XP_016864744.1  septin-8 isoform X5

      Conserved Domains (1) summary
      cd01850
      Location:1249
      CDC_Septin; CDC/Septin GTPase family
    4. XM_017009254.2XP_016864743.1  septin-8 isoform X3

      Related
      ENSP00000367993.4, ENST00000378721.8
      Conserved Domains (1) summary
      cd01850
      Location:41307
      CDC_Septin; CDC/Septin GTPase family
    5. XM_005271928.3XP_005271985.1  septin-8 isoform X2

      See identical proteins and their annotated locations for XP_005271985.1

      Conserved Domains (1) summary
      cd01850
      Location:41307
      CDC_Septin; CDC/Septin GTPase family
    6. XM_005271927.3XP_005271984.1  septin-8 isoform X1

      See identical proteins and their annotated locations for XP_005271984.1

      Conserved Domains (1) summary
      cd01850
      Location:41309
      CDC_Septin; CDC/Septin GTPase family
    7. XM_017009257.2XP_016864746.1  septin-8 isoform X6

      Conserved Domains (1) summary
      cd01850
      Location:1247
      CDC_Septin; CDC/Septin GTPase family
    8. XM_011543288.2XP_011541590.1  septin-8 isoform X4

      See identical proteins and their annotated locations for XP_011541590.1

      Conserved Domains (1) summary
      cd01850
      Location:1249
      CDC_Septin; CDC/Septin GTPase family
    9. XM_017009259.1XP_016864748.1  septin-8 isoform X8

      Conserved Domains (1) summary
      cd01850
      Location:1247
      CDC_Septin; CDC/Septin GTPase family
    10. XM_017009261.1XP_016864750.1  septin-8 isoform X9

      Conserved Domains (1) summary
      cd01850
      Location:1247
      CDC_Septin; CDC/Septin GTPase family
    11. XM_017009258.1XP_016864747.1  septin-8 isoform X7

      Conserved Domains (1) summary
      cd01850
      Location:1249
      CDC_Septin; CDC/Septin GTPase family
    12. XM_017009260.2XP_016864749.1  septin-8 isoform X8

      Conserved Domains (1) summary
      cd01850
      Location:1247
      CDC_Septin; CDC/Septin GTPase family

    RNA

    1. XR_001742049.2 RNA Sequence

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