Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SEPT6 (septin 6)

Identity

Other namesSeptin 6
KIAA0128
HGNC (Hugo) SEPT6
Location Xq24
Location_base_pair Starts at 118634937 and ends at 118711361 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

Description 12 Exons
Transcription Four types of transcripts: 2,3kb, 2,7kb, 3,1kb and 4,6kb coding for three isoforms.

Protein

 
Description Isoform A: 427 amino acids; 46,9 kDa.
Isoform B: 434 amino acids; 49,7 kDa.
Isoform D: 429 amino acids; 47,2 kDa.
Expression Ubiquitously expressed; highest levels in placenta, lung, kidney and testes, the 2,7kb transcript can be found only in fetal heart and adult brain tissue.
Localisation Cytoplasmatic
Function The conserved septin protein family was first identified in yeast and subsequently shown to play an important role in cytoskeletal organization and cytokinesis.

Implicated in

Entity acute myloid leukemia
Disease AML-M2 and M4
Cytogenetics ins(X;11)(q24;q23) ins(X;11)(q22-24;q23) t(X;3)(q22;p21) ins(X;11)(q22;q13q25)
 
Hybrid/Mutated Gene MLL-Septin 6
Abnormal Protein MLL exons 1 to 8 Septin 6 exon 2 to end
Oncogenesis basically unknown
  

External links

Nomenclature
HGNC (Hugo)SEPT6   15848
Entrez_Gene (NCBI)SEPT6  23157  septin 6
Cards
AtlasSEPTIN6ID376
GeneCards (Weizmann)SEPT6
Ensembl (Hinxton)ENSG00000125354 [Gene_View]  SEPT6 [Vega]
AceView (NCBI)SEPT6
Genatlas (Paris)SEPT6
euGene (Indiana)23157
SOURCE (Stanford)NM_015129 NM_145799 NM_145800 NM_145802
Gene Expression (Array Express) ENSG00000125354
Genomic and cartography
GoldenPath (UCSC)SEPT6  -  Xq24   chrX:118634937-118711361 -  Xq24   [Description]    (hg18-Mar_2006)
EnsemblSEPT6 - Xq24 [CytoView]
Mapping of homologs : NCBISEPT6 [Mapview]
OMIM300683   
Gene and transcription
Gene : Genbank (Entrez)AF397023 AF403058 AF403059 AF403060 AF403061
Reference sequence (RefSeq transcript) :SRSNM_015129 NM_145799 NM_145800 NM_145802
Reference transcript : EntrezNM_015129 NM_145799 NM_145800 NM_145802
RefSeq genomic : SRSAC_000066 AC_000155 NC_000023 NG_012565 NT_011786 NW_001842395 NW_927720
RefSeq genomic : EntrezAC_000066 AC_000155 NC_000023 NG_012565 NT_011786 NW_001842395 NW_927720
Consensus coding sequences : CCDS NCBISEPT6
Cluster EST : UnigeneHs.496666 [ SRS ] Hs.496666 [ NCBI ]
Alternative Splicing : Fast-db (Paris)14219
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ14141 (SRS) Q14141 (Expasy) Q14141 (Uniprot)
With graphics : InterProQ14141
Splice isoforms : VarSplice FASTAQ14141(VarSplice FASTA)
Domains : Interpro (SRS)Cell_Div_GTP_bd    Septin   
Domains : Interpro (EBI)Cell_Div_GTP_bd    Septin   
Related proteins : CluSTrQ14141
Domain families : Pfam SRSSeptin (PF00735)   
Domain families : Pfam SangerSeptin (PF00735)   
Domain families : Pfam NCBIpfam00735   
Blocks (Seattle)Q14141
Crystal structure of protein : PDB SRS2QAG   
Crystal structure of protein : PDBSum2QAG   
Crystal structure of protein : IMB2QAG   
Crystal structure of protein : PDB RSDB2QAG   
HPRD06716
Protein Interaction databases
DIP (DOE-UCLA)Q14141
IntAct (EBI)Q14141
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBISEPT6
SNP : GeneSNP UtahSEPT6
SNP : HGBaseSEPT6
Genetic variants : HAPMAPSEPT6
Cancer Gene: CensusSEPT6 
Somatic Mutations in Cancer : COSMICSEPT6 
Translocation Breakpoints in Cancer : TICdbSEPT6 
Mutations and Diseases : HGMDSEPT6
Hereditary diseases : OMIM300683   
Hereditary diseases : GENETests300683   
Diseases : Genetic AssociationSEPT6
General knowledge
Homologs : HomoloGeneSEPT6
Homology/Alignments : Family Browser UCSCSEPT6
Phylogenetic Trees/Animal Genes : TreeFamSEPT6
Chemical/Protein Interactions : CTD23157
Keywords Ontology : AmiGOnucleotide binding  cytokinesis  protein binding  protein binding  GTP binding  cellular_component  cytoplasm  spindle  cytoskeleton  cell cycle  septin complex  interspecies interaction between organisms  
Keywords Ontology : EGO-EBInucleotide binding  cytokinesis  protein binding  protein binding  GTP binding  cellular_component  cytoplasm  spindle  cytoskeleton  cell cycle  septin complex  interspecies interaction between organisms  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesSEPT6 Related clones (RZPD - Berlin)
Literature
PubMed22 Pubmed reference(s) in Entrez
PubGeneSEPT6

Bibliography

Septins: cytoskeletal polymers or signalling GTPases?
Field CM, Kellogg D
Trends in cell biology. 1999 ; 9 (10) : 387-394.
PMID 10481176
 
An ins(X;11)(q24;q23) fuses the MLL and the Septin 6/KIAA0128 gene in an infant with AML-M2.
Borkhardt A, Teigler-Schlegel A, Fuchs U, Keller C, Knig M, Harbott J, Haas OA
Genes, chromosomes & cancer. 2001 ; 32 (1) : 82-88.
PMID 11477664
 
SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24.
Ono R, Taki T, Taketani T, Kawaguchi H, Taniwaki M, Okamura T, Kawa K, Hanada R, Kobayashi M, Hayashi Y
Cancer research. 2002 ; 62 (2) : 333-337.
PMID 11809673
 
MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site.
Slater DJ, Hilgenfeld E, Rappaport EF, Shah N, Meek RG, Williams WR, Lovett BD, Osheroff N, Autar RS, Ried T, Felix CA
Oncogene. 2002 ; 21 (30) : 4706-4714.
PMID 12096348
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written12-2002Uta Fuchs, Arndt Borkhardt
Children's University Hospital Giessen, Hematology & Oncology, Feulgenstr. 12, 35392 Giessen, Germany

Citation

This paper should be referenced as such :
Fuchs U, Borkhardt A . SEPT6 (septin 6). Atlas Genet Cytogenet Oncol Haematol. December 2002 .
URL : http://AtlasGeneticsOncology.org/Genes/SEPTIN6ID376.html

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indexed on : Sat Feb 27 10:47:20 CET 2010
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