Septin 6

Identity

Other names	KIAA0128
Hugo	SEPT6
Location	Xq24

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
Hugo	SEPT6
GDB	SEPT6
Entrez_Gene	SEPT6  23157  septin 6
	Cards
Atlas	SEPTIN6ID376
GeneCards	SEPT6
Ensembl	SEPT6 [Search_View]   ENSG00000125354 [Gene_View]
Genatlas	SEPT6
GeneLynx	SEPT6
eGenome	SEPT6
euGene	23157
	Genomic and cartography
GoldenPath	SEPT6  -  Xq24   chrX:118634937-118711361 -  Xq24   [Description]    (hg18-Mar_2006)
Ensembl	SEPT6 - Xq24 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SEPT6
	Gene and transcription
Genbank	AF397023 [ ENTREZ ]
Genbank	AF403058 [ ENTREZ ]
Genbank	AF403059 [ ENTREZ ]
Genbank	AF403060 [ ENTREZ ]
Genbank	AF403061 [ ENTREZ ]
RefSeq	NM_015129 [ SRS ]    NM_015129 [ ENTREZ ]
RefSeq	NM_145799 [ SRS ]    NM_145799 [ ENTREZ ]
RefSeq	NM_145800 [ SRS ]    NM_145800 [ ENTREZ ]
RefSeq	NM_145802 [ SRS ]    NM_145802 [ ENTREZ ]
RefSeq	AC_000066 [ SRS ]    AC_000066 [ ENTREZ ]
RefSeq	NC_000023 [ SRS ]    NC_000023 [ ENTREZ ]
RefSeq	NT_011786 [ SRS ]    NT_011786 [ ENTREZ ]
RefSeq	NW_927720 [ SRS ]    NW_927720 [ ENTREZ ]
AceView	SEPT6 AceView - NCBI
Unigene	Hs.496666 [ SRS ]    Hs.496666 [ NCBI ]     HS496666 [ spliceNest ]
Fast-db	14219 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q14141 [ SRS]    Q14141 [ EXPASY ]     Q14141 [ INTERPRO ]
Interpro	IPR000038 Cell_Div_GTP_bd [ SRS ]    IPR000038 Cell_Div_GTP_bd [ EBI ]
CluSTr	Q14141
Pfam	PF00735 Septin [ SRS ]    PF00735 Septin [ Sanger ]    pfam00735 [ NCBI-CDD ]
Prodom	PD002565 GTP_Cell_Div[INRA-Toulouse]
Prodom	Q14141 SEPT6_HUMAN [ Domain structure ]   Q14141 SEPT6_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	Q14141
HPRD	06716
	Protein Interaction databases
DIP	Q14141
IntAct	Q14141
	Polymorphism : SNP, mutations, diseases
OMIM	300683    [ map ]
GENECLINICS	300683
SNP	SEPT6 [dbSNP-NCBI]
SNP	NM_015129 [SNP-NCI]
SNP	NM_145799 [SNP-NCI]
SNP	NM_145800 [SNP-NCI]
SNP	NM_145802 [SNP-NCI]
SNP	SEPT6 [GeneSNPs - Utah]  SEPT6] [HGBASE - SRS]
HAPMAP	SEPT6 [HAPMAP]
COSMIC	SEPT6 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	SEPT6 [Translocation breakpoints In Cancer]
HGMD	SEPT6
	General knowledge
Family Browser	SEPT6 [UCSC Family Browser]
SOURCE	NM_015129
SOURCE	NM_145799
SOURCE	NM_145800
SOURCE	NM_145802
SMD	Hs.496666
SAGE	Hs.496666
GO	nucleotide binding [Amigo]  nucleotide binding
GO	cytokinesis [Amigo]  cytokinesis
GO	protein binding [Amigo]  protein binding
GO	GTP binding [Amigo]  GTP binding
GO	GTP binding [Amigo]  GTP binding
GO	cellular_component [Amigo]  cellular_component
GO	cell cycle [Amigo]  cell cycle
PubGene	SEPT6
TreeFam	SEPT6
CTD	23157 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SEPT6 Related clones (RZPD - Berlin)
	PubMed
PubMed	19 Pubmed reference(s) in LocusLink

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, K��nig 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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	12-2002	Uta 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 . Septin 6. Atlas Genet Cytogenet Oncol Haematol. December 2002 . URL : http://AtlasGeneticsOncology.org/Genes/SEPTIN6ID376.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:27:02 2008