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SEPTIN8 septin 8 [ Homo sapiens (human) ]

Gene ID: 23176, updated on 11-Sep-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
109.20190905 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 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

GeneRIFs: Gene References Into Functions

What'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 details...Open this link in a new tab

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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