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Aliases for SEPT6 Gene

Aliases for SEPT6 Gene

  • Septin 6 2 3 5
  • SEP2 3 4
  • Septin 2 3
  • KIAA0128 4
  • SEPT2 3

External Ids for SEPT6 Gene

Previous GeneCards Identifiers for SEPT6 Gene

  • GC0XM113567
  • GC0XM115735
  • GC0XM116725
  • GC0XM117503
  • GC0XM118531
  • GC0XM118633
  • GC0XM118750
  • GC0XM108243

Summaries for SEPT6 Gene

Entrez Gene Summary for SEPT6 Gene

  • 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]

GeneCards Summary for SEPT6 Gene

SEPT6 (Septin 6) is a Protein Coding gene. Diseases associated with SEPT6 include Leukemia, Acute Myeloid. Among its related pathways are Bacterial invasion of epithelial cells. GO annotations related to this gene include GTP binding. An important paralog of this gene is SEPT11.

UniProtKB/Swiss-Prot for SEPT6 Gene

  • Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication.

Gene Wiki entry for SEPT6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT6 Gene

Genomics for SEPT6 Gene

Regulatory Elements for SEPT6 Gene

Enhancers for SEPT6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SEPT6 on UCSC Golden Path with GeneCards custom track

Promoters for SEPT6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SEPT6 on UCSC Golden Path with GeneCards custom track

Genomic Location for SEPT6 Gene

Chromosome:
X
Start:
119,615,724 bp from pter
End:
119,693,370 bp from pter
Size:
77,647 bases
Orientation:
Minus strand

Genomic View for SEPT6 Gene

Genes around SEPT6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT6 Gene

Proteins for SEPT6 Gene

  • Protein details for SEPT6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14141-SEPT6_HUMAN
    Recommended name:
    Septin-6
    Protein Accession:
    Q14141
    Secondary Accessions:
    • Q5JTK0
    • Q969W5
    • Q96A13
    • Q96GR1
    • Q96P86
    • Q96P87

    Protein attributes for SEPT6 Gene

    Size:
    434 amino acids
    Molecular mass:
    49717 Da
    Quaternary structure:
    • Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation. Filaments are assembled from asymmetrical heterotrimers, composed of SEPT2, SEPT6 and SEPT7 that associate head-to-head to form a hexameric unit. Within the trimer, directly interacts with SEPT2 and SEPT7. Also interacts with SEPT9 and SEPT12. Interaction with SEPT12 alters filament structure. Interacts with SOCS7. Interacts with HCV NS5B and with HNRNPA1.
    Miscellaneous:
    • Coordinated expression with SEPT2 and SEPT7.

    Three dimensional structures from OCA and Proteopedia for SEPT6 Gene

    Alternative splice isoforms for SEPT6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPT6 Gene

Proteomics data for SEPT6 Gene at MOPED

Post-translational modifications for SEPT6 Gene

  • Ubiquitination at Lys 35, Lys 66, Lys 191, Lys 273, and Lys 420
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for 38961

No data available for DME Specific Peptides for SEPT6 Gene

Domains & Families for SEPT6 Gene

Gene Families for SEPT6 Gene

Protein Domains for SEPT6 Gene

Graphical View of Domain Structure for InterPro Entry

Q14141

UniProtKB/Swiss-Prot:

SEPT6_HUMAN :
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Domain:
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
genes like me logo Genes that share domains with SEPT6: view

No data available for Suggested Antigen Peptide Sequences for SEPT6 Gene

Function for SEPT6 Gene

Molecular function for SEPT6 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication.
genes like me logo Genes that share phenotypes with SEPT6: view

Animal Models for SEPT6 Gene

MGI Knock Outs for SEPT6:

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPT6 Gene

Localization for SEPT6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT6 Gene

Cytoplasm. Cytoplasm, cytoskeleton, spindle. Chromosome, centromere, kinetochore. Cleavage furrow. Midbody. Note=In metaphase cells, localized within the microtubule spindle. At the metaphase plate, in close apposition to the kinetochores of the congressed chromosomes. In cells undergoing cytokinesis, localized to the midbody, the ingressing cleavage furrow, and the central spindle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEPT6 Gene COMPARTMENTS Subcellular localization image for SEPT6 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for SEPT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008021 synaptic vesicle IEA --
GO:0030496 midbody IEA --
GO:0031105 septin complex IEA --
genes like me logo Genes that share ontologies with SEPT6: view

Pathways & Interactions for SEPT6 Gene

genes like me logo Genes that share pathways with SEPT6: view

Pathways by source for SEPT6 Gene

1 KEGG pathway for SEPT6 Gene

SIGNOR curated interactions for SEPT6 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SEPT6 Gene

None

Drugs & Compounds for SEPT6 Gene

No Compound Related Data Available

Transcripts for SEPT6 Gene

Unigene Clusters for SEPT6 Gene

Septin 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT6 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d · 11e · 11f · 11g ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - - - - - -
SP7: - - -
SP8: - - - - - -
SP9: - - - - - -
SP10: - - - -
SP11: - - - - - - -
SP12: - - - -
SP13: - - - -
SP14: - - -
SP15:
SP16:
SP17:

ExUns: 16a · 16b ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21
SP1: - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - -
SP7: - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - -
SP16:
SP17:

Relevant External Links for SEPT6 Gene

GeneLoc Exon Structure for
SEPT6
ECgene alternative splicing isoforms for
SEPT6

Expression for SEPT6 Gene

mRNA expression in normal human tissues for SEPT6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEPT6 Gene

This gene is overexpressed in Whole Blood (x4.9).

Protein differential expression in normal tissues from HIPED for SEPT6 Gene

This gene is overexpressed in Lymph node (10.0) and CD8 Tcells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEPT6 Gene



SOURCE GeneReport for Unigene cluster for SEPT6 Gene Hs.496666

mRNA Expression by UniProt/SwissProt for SEPT6 Gene

Q14141-SEPT6_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with SEPT6: view

Protein tissue co-expression partners for SEPT6 Gene

Primer Products

Orthologs for SEPT6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPT6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEPT6 35
  • 93.83 (n)
  • 98.36 (a)
SEPT6 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT6 35
  • 92.01 (n)
  • 98.39 (a)
SEPT6 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept6 35
  • 91.17 (n)
  • 96.08 (a)
Sept6 16
Sept6 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sept6 35
  • 91.1 (n)
  • 95.55 (a)
oppossum
(Monodelphis domestica)
Mammalia SEPT6 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT6 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEPT6 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT6 35
  • 80.99 (n)
  • 94.84 (a)
SEPT6 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT6 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept6 35
  • 76.58 (n)
  • 89.7 (a)
Str.8205 35
zebrafish
(Danio rerio)
Actinopterygii sept6 35
  • 79.86 (n)
  • 90.63 (a)
wufb77a07 35
sept6 36
  • 90 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011532 35
  • 66.83 (n)
  • 72.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sep2 35
  • 68.32 (n)
  • 70.54 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-61 35
  • 52.48 (n)
  • 52.38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 71 (a)
OneToMany
Species with no ortholog for SEPT6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SEPT6 Gene

ENSEMBL:
Gene Tree for SEPT6 (if available)
TreeFam:
Gene Tree for SEPT6 (if available)

Paralogs for SEPT6 Gene

genes like me logo Genes that share paralogs with SEPT6: view

Variants for SEPT6 Gene

Sequence variations from dbSNP and Humsavar for SEPT6 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs747683363 -- 119,651,964(+) GTGTC(A/G)CCCAG intron-variant
rs747718157 -- 119,620,090(+) GGATA(A/G)ATTAA intron-variant
rs747719834 -- 119,633,224(+) GAGGA(A/C)TCACC intron-variant
rs747726164 -- 119,691,132(+) ACCAA(A/G)TGGCC intron-variant
rs747738896 -- 119,656,973(+) CAGCA(A/C)TTTGG intron-variant

Variation tolerance for SEPT6 Gene

Residual Variation Intolerance Score: 67.3% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for SEPT6 Gene

Disorders for SEPT6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEPT6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- elite association - COSMIC cancer census association via MalaCards
Search SEPT6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SEPT6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT6
genes like me logo Genes that share disorders with SEPT6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT6 Gene

Publications for SEPT6 Gene

  1. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T. … Nomura N. (DNA Res. 1995) 2 3 4 67
  2. MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia. (PMID: 16843108) Kadkol S.S. … Lindgren V. (Cancer Genet. Cytogenet. 2006) 3 23
  3. Structural analysis of septin 2, 6, and 7 complexes. (PMID: 16914550) Low C. … Macara I.G. (J. Biol. Chem. 2006) 3 23
  4. Interaction of the S100A4 (Mts1) protein with septins Sept2, Sept6, and Sept7 in vitro. (PMID: 14531065) Koshelev Y.A. … Georgiev G.P. (Dokl. Biochem. Biophys. 2003) 3 23
  5. Phosphorylation of a new brain-specific septin, G-septin, by cGMP-dependent protein kinase. (PMID: 10744683) Xue J. … Robinson P.J. (J. Biol. Chem. 2000) 2 3

Products for SEPT6 Gene

Sources for SEPT6 Gene

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