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SEPT6 septin 6 [ Homo sapiens (human) ]

Gene ID: 23157, updated on 7-Oct-2018

Summary

Official Symbol
SEPT6provided by HGNC
Official Full Name
septin 6provided by HGNC
Primary source
HGNC:HGNC:15848
See related
Ensembl:ENSG00000125354 MIM:300683; Vega:OTTHUMG00000022280
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; SEPT2
Summary
This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lymph node (RPKM 36.8), adrenal (RPKM 23.4) and 23 other tissues See more
Orthologs

Genomic context

See SEPT6 in Genome Data Viewer
Location:
Xq24
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (119615724..119693370, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (118749687..118827333, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 A Neighboring gene NFKB repressing factor Neighboring gene microRNA 766 Neighboring gene sosondowah ankyrin repeat domain family member D Neighboring gene small nucleolar RNA, H/ACA box 69 Neighboring gene ribosomal protein L39

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

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

  • KIAA0128, MGC16619, MGC20339

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding TAS
Traceable Author Statement
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex scaffold activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cytokinesis TAS
Traceable Author Statement
more info
PubMed 
septin ring assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon terminus IEA
Inferred from Electronic Annotation
more info
 
cleavage furrow IEA
Inferred from Electronic Annotation
more info
 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
midbody IEA
Inferred from Electronic Annotation
more info
 
septin collar IEA
Inferred from Electronic Annotation
more info
 
septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin complex IDA
Inferred from Direct Assay
more info
PubMed 
septin filament array IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm annulus IDA
Inferred from Direct Assay
more info
PubMed 
spindle IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle 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.

Genomic

  1. NG_012565.1 RefSeqGene

    Range
    5001..82647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015129.5NP_055944.2  septin-6 isoform B

    See identical proteins and their annotated locations for NP_055944.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (II) encodes the longest isoform (B).
    Source sequence(s)
    AC004913, AC005052, AL355348
    Consensus CDS
    CCDS14584.1
    UniProtKB/Swiss-Prot
    Q14141
    Related
    ENSP00000341524.5, OTTHUMP00000023916, ENST00000343984.5, OTTHUMT00000058059
    Conserved Domains (1) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
  2. NM_145799.3NP_665798.1  septin-6 isoform A

    See identical proteins and their annotated locations for NP_665798.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (I) contains an additional segment in the 3' coding region, which leads to a frameshift and immediate translation termination, as compared to variant II. The resulting isoform (A) is truncated at the C-terminus, as compared to isoform B.
    Source sequence(s)
    AC004913, AY005981, AY034177, DC336432
    Consensus CDS
    CCDS14585.1
    UniProtKB/Swiss-Prot
    Q14141
    UniProtKB/TrEMBL
    Q541S4
    Related
    ENSP00000378108.1, ENST00000394610.5
    Conserved Domains (1) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
  3. NM_145800.3NP_665799.1  septin-6 isoform A

    See identical proteins and their annotated locations for NP_665799.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (III) contains an alternate 3' sequence, as compared to variant II. The resulting isoform (A) is truncated at the C-terminus, as compared to isoform B.
    Source sequence(s)
    AC004913, AC005052, AL355348
    Consensus CDS
    CCDS14585.1
    UniProtKB/Swiss-Prot
    Q14141
    UniProtKB/TrEMBL
    Q541S4
    Related
    ENSP00000353278.7, OTTHUMP00000023921, ENST00000360156.11, OTTHUMT00000058064
    Conserved Domains (1) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
  4. NM_145802.3NP_665801.1  septin-6 isoform D

    See identical proteins and their annotated locations for NP_665801.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (V) contains an alternate 3' exon, as compared to variant II. It encodes isoform D, that is shorter and has a distinct C-terminus, as compared to isoform B.
    Source sequence(s)
    AC004913, AC005052, AL355348
    Consensus CDS
    CCDS14583.1
    UniProtKB/Swiss-Prot
    Q14141
    UniProtKB/TrEMBL
    Q548C9
    Related
    ENSP00000346169.4, OTTHUMP00000023919, ENST00000354228.8, OTTHUMT00000058062
    Conserved Domains (1) summary
    cd01850
    Location:39307
    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.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    119615724..119693370 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724748.3XP_006724811.1  septin-6 isoform X4

    See identical proteins and their annotated locations for XP_006724811.1

    UniProtKB/TrEMBL
    B1AMS2
    Related
    ENSP00000346397.3, OTTHUMP00000023917, ENST00000354416.7
    Conserved Domains (1) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
  2. XM_006724750.3XP_006724813.1  septin-6 isoform X5

    See identical proteins and their annotated locations for XP_006724813.1

    UniProtKB/Swiss-Prot
    Q14141
    UniProtKB/TrEMBL
    Q541S4
    Conserved Domains (1) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
  3. XM_011531317.3XP_011529619.1  septin-6 isoform X1

    Conserved Domains (2) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:21373
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  4. XM_011531318.3XP_011529620.1  septin-6 isoform X3

    See identical proteins and their annotated locations for XP_011529620.1

    Conserved Domains (1) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
  5. XM_005262400.4XP_005262457.1  septin-6 isoform X2

    See identical proteins and their annotated locations for XP_005262457.1

    Conserved Domains (2) summary
    cd01850
    Location:39307
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:21373
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

RNA

  1. XR_001755677.2 RNA Sequence

  2. XR_001755676.2 RNA Sequence

  3. XR_001755675.2 RNA Sequence

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