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    SEPTIN8 septin 8 [ Homo sapiens (human) ]

    Gene ID: 23176, updated on 11-Apr-2024

    Summary

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    Official Symbol
    SEPTIN8provided by HGNC
    Official Full Name
    septin 8provided by HGNC
    Primary source
    HGNC:HGNC:16511
    See related
    Ensembl:ENSG00000164402 MIM:608418; AllianceGenome:HGNC:16511
    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; Septin-8
    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
    mouse all
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    Genomic context

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    Location:
    5q31.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (132750819..132780083, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (133270556..133297751, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (132086511..132113704, 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 ATAC-STARR-seq lymphoblastoid active region 23094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23096 Neighboring gene cyclin I family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16337 Neighboring gene Sharpr-MPRA regulatory region 2681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:132150138-132150638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:132150639-132151139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16341 Neighboring gene sosondowah ankyrin repeat domain family member A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16343 Neighboring gene shroom family member 1

    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. Sept8/SEPTIN8 involvement in cellular structure and kidney damage is identified by genetic mapping and a novel human tubule hypoxic model. Keele GR, et al. Sci Rep, 2021 Jan 22. PMID 33483609, Free PMC Article
    2. Cloning, overexpression, purification and preliminary characterization of human septin 8. Souza TA, et al. Protein J, 2010 Jul. PMID 20544379
    3. KIAA0202, a human septin family member, interacting with hPFTAIRE1. Yang T, et al. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai), 2002 Jul. PMID 12098780
    4. Human septin-septin interaction: CDCrel-1 partners with KIAA0202. Bläser S, et al. FEBS Lett, 2002 May 22. PMID 12023038
    5. Septin expression in proliferative retinal membranes. Xin X, et al. J Histochem Cytochem, 2007 Nov. PMID 17625225, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Palmitoylated Sept8-204 modulates learning and anxiety by regulating filopodia arborization and actin dynamics.
      Title: Palmitoylated Sept8-204 modulates learning and anxiety by regulating filopodia arborization and actin dynamics.
    2. Sept8/SEPTIN8 involvement in cellular structure and kidney damage is identified by genetic mapping and a novel human tubule hypoxic model.
      Title: Sept8/SEPTIN8 involvement in cellular structure and kidney damage is identified by genetic mapping and a novel human tubule hypoxic model.
    3. SEPT8 modulates beta-amyloidogenic processing of APP through a mechanism affecting the intracellular sorting and accumulation of BACE1.
      Title: SEPT8 modulates β-amyloidogenic processing of APP by affecting the sorting and accumulation of BACE1.
    4. Cloning, overexpression, purification and preliminary characterization of human septin 8. Fluorescence emission spectra, analytic gel filtration and DLS reflect the sample oligomeric heterogeneity with the predominance of dimers in solution.
      Title: Cloning, overexpression, purification and preliminary characterization of human septin 8.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association analysis of susceptibility candidate region on chromosome 5q31 for tuberculosis.
    6. 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.
    7. Our finding suggests a role for members of the septin family in the development of proliferative retinal membranes.
      Title: Septin expression in proliferative retinal membranes.
    8. SEPT8 and SEPT4 are localized surrounding alpha-granules. Activation of platelets by agonists resulted in the translocation of SEPT4 and SEPT8 to the platelet surface indicating a possible functional role of these proteins in platelet granular secretion
      Title: The novel human platelet septin SEPT8 is an interaction partner of SEPT4.
    9. We studied the assembly of three human septins, SEPT4, SEPT5 and SEPT8, with each other (heterotypic) and with themselves (homotypic) using a yeast two-hybrid system.
      Title: Human septin-septin interactions as a prerequisite for targeting septin complexes in the cytosol.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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 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

    Clone Names

    • KIAA0202

    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 SNARE complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    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
    		  
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in presynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of septin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in septin ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    septin-8

    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_001098811.2 → NP_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
      A6NC65, A6NKP6, F6W7K9, Q8IX36, Q8IX37, Q92599, Q9BVB3
      UniProtKB/TrEMBL
      A6NMH6
      Related
      ENSP00000367991.2, ENST00000378719.7
      Conserved Domains (1) summary
      cd01850
      Location:41 → 309
      CDC_Septin; CDC/Septin GTPase family

    2. NM_001098812.2 → NP_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/TrEMBL
      A6NMH6
      Related
      ENSP00000394766.2, ENST00000458488.2
      Conserved Domains (1) summary
      cd01850
      Location:41 → 309
      CDC_Septin; CDC/Septin GTPase family

    3. NM_001098813.2 → NP_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/TrEMBL
      A6NMH6
      Related
      ENSP00000399840.1, ENST00000448933.5
      Conserved Domains (1) summary
      cd01850
      Location:1 → 249
      CDC_Septin; CDC/Septin GTPase family

    4. NM_001300798.2 → NP_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/TrEMBL
      A6NFQ9, A6NMH6
      Related
      ENSP00000367973.1, ENST00000378701.5
      Conserved Domains (1) summary
      cd01850
      Location:41 → 307
      CDC_Septin; CDC/Septin GTPase family

    5. NM_001300799.2 → NP_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/TrEMBL
      A6NMH6, B7ZVZ1
      Conserved Domains (1) summary
      cd01850
      Location:41 → 307
      CDC_Septin; CDC/Septin GTPase family

    6. NM_015146.2 → NP_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/TrEMBL
      A6NMH6
      Related
      ENSP00000296873.7, ENST00000296873.11
      Conserved Domains (1) summary
      cd01850
      Location:41 → 309
      CDC_Septin; CDC/Septin GTPase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      132750819..132780083 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271931.4 → XP_005271988.1  septin-8 isoform X4

      See identical proteins and their annotated locations for XP_005271988.1

      UniProtKB/TrEMBL
      A6NMH6
      Conserved Domains (1) summary
      cd01850
      Location:1 → 249
      CDC_Septin; CDC/Septin GTPase family

    2. XM_047416999.1 → XP_047272955.1  septin-8 isoform X7

    3. XM_017009256.1 → XP_016864745.1  septin-8 isoform X6

      UniProtKB/TrEMBL
      A6NMH6
      Conserved Domains (1) summary
      cd01850
      Location:1 → 247
      CDC_Septin; CDC/Septin GTPase family

    4. XM_017009255.1 → XP_016864744.1  septin-8 isoform X5

      UniProtKB/TrEMBL
      A6NMH6
      Conserved Domains (1) summary
      cd01850
      Location:1 → 249
      CDC_Septin; CDC/Septin GTPase family

    5. XM_017009254.3 → XP_016864743.1  septin-8 isoform X3

      UniProtKB/TrEMBL
      A6NMH6
      Related
      ENSP00000367993.4, ENST00000378721.8
      Conserved Domains (1) summary
      cd01850
      Location:41 → 307
      CDC_Septin; CDC/Septin GTPase family

    6. XM_005271928.4 → XP_005271985.1  septin-8 isoform X2

      See identical proteins and their annotated locations for XP_005271985.1

      UniProtKB/TrEMBL
      A6NMH6
      Conserved Domains (1) summary
      cd01850
      Location:41 → 307
      CDC_Septin; CDC/Septin GTPase family

    7. XM_005271927.4 → XP_005271984.1  septin-8 isoform X1

      See identical proteins and their annotated locations for XP_005271984.1

      UniProtKB/TrEMBL
      A6NMH6
      Conserved Domains (1) summary
      cd01850
      Location:41 → 309
      CDC_Septin; CDC/Septin GTPase family

    8. XM_017009259.1 → XP_016864748.1  septin-8 isoform X9

      UniProtKB/TrEMBL
      A6NMH6
      Conserved Domains (1) summary
      cd01850
      Location:1 → 247
      CDC_Septin; CDC/Septin GTPase family

    9. XM_017009261.1 → XP_016864750.1  septin-8 isoform X10

      UniProtKB/TrEMBL
      A6NMH6
      Conserved Domains (1) summary
      cd01850
      Location:1 → 247
      CDC_Septin; CDC/Septin GTPase family

    10. XM_017009258.1 → XP_016864747.1  septin-8 isoform X8

      UniProtKB/TrEMBL
      A6NMH6
      Conserved Domains (1) summary
      cd01850
      Location:1 → 249
      CDC_Septin; CDC/Septin GTPase family

    RNA

    1. XR_007058599.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      133270556..133297751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352166.1 → XP_054208141.1  septin-8 isoform X6

    2. XM_054352164.1 → XP_054208139.1  septin-8 isoform X4

    3. XM_054352162.1 → XP_054208137.1  septin-8 isoform X2

    4. XM_054352167.1 → XP_054208142.1  septin-8 isoform X7

    5. XM_054352165.1 → XP_054208140.1  septin-8 isoform X5

    6. XM_054352163.1 → XP_054208138.1  septin-8 isoform X3

    7. XM_054352161.1 → XP_054208136.1  septin-8 isoform X1

    8. XM_054352169.1 → XP_054208144.1  septin-8 isoform X9

    9. XM_054352170.1 → XP_054208145.1  septin-8 isoform X10

    10. XM_054352168.1 → XP_054208143.1  septin-8 isoform X8

    RNA

    1. XR_008487110.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92599.4 GenPept UniProtKB/Swiss-Prot:Q92599

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