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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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See SEPTIN8 in Genome Data Viewer
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

Gene LinkOut

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