Human Gene SEPTIN6 (uc004eru.3)
  Description: Homo sapiens septin 6 (SEPTIN6), transcript variant I, mRNA.
RefSeq Summary (NM_145799): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:118,750,909-118,827,333 Size: 76,425 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chrX:118,759,339-118,827,068 Size: 67,730 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:118,750,909-118,827,333)mRNA (may differ from genome)Protein (427 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVLynxMGIneXtProtOMIMPubMed
TreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SEPT6_HUMAN
DESCRIPTION: RecName: Full=Septin-6;
FUNCTION: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication.
SUBUNIT: 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.
INTERACTION: Q8IYM1:SEPT12; NbExp=3; IntAct=EBI-745901, EBI-2585067; Q15019:SEPT2; NbExp=4; IntAct=EBI-745901, EBI-741220; O14512-1:SOCS7; NbExp=2; IntAct=EBI-745901, EBI-1539617;
SUBCELLULAR LOCATION: 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.
TISSUE SPECIFICITY: Widely expressed.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
MISCELLANEOUS: Coordinated expression with SEPT2 and SEPT7.
SIMILARITY: Belongs to the septin family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SEPTIN6ID376.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 74.24 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 432.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -119.90265-0.452 Picture PostScript Text
3' UTR -959.613147-0.305 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000038 - Cell_div_GTP-bd
IPR016491 - Septin

Pfam Domains:
PF00735 - Septin
PF01926 - 50S ribosome-binding GTPase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QAG - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14141
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005525 GTP binding

Biological Process:
GO:0000281 mitotic cytokinesis
GO:0007049 cell cycle
GO:0007283 spermatogenesis
GO:0016032 viral process
GO:0030154 cell differentiation
GO:0051301 cell division

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0005940 septin ring
GO:0008021 synaptic vesicle
GO:0030496 midbody
GO:0031105 septin complex
GO:0031514 motile cilium
GO:0032154 cleavage furrow
GO:0032173 septin collar
GO:0042995 cell projection
GO:0043679 axon terminus
GO:0097227 sperm annulus


-  Descriptions from all associated GenBank mRNAs
  KJ893330 - Synthetic construct Homo sapiens clone ccsbBroadEn_02724 SEPT6 gene, encodes complete protein.
KJ893331 - Synthetic construct Homo sapiens clone ccsbBroadEn_02725 SEPT6 gene, encodes complete protein.
KJ906080 - Synthetic construct Homo sapiens clone ccsbBroadEn_15750 SEPT6 gene, encodes complete protein.
BC011922 - Homo sapiens septin 6, mRNA (cDNA clone MGC:20339 IMAGE:4542179), complete cds.
AK026589 - Homo sapiens cDNA: FLJ22936 fis, clone KAT07936.
AF397023 - Homo sapiens septin 6 mRNA, complete cds.
AY679521 - Homo sapiens septin 6 isoform E mRNA, complete cds, alternatively spliced.
AK290977 - Homo sapiens cDNA FLJ77872 complete cds, highly similar to Homo sapiens SEPTIN6 type V (SEPTIN6) mRNA.
AF403060 - Homo sapiens SEPTIN6 type III (SEPTIN6) mRNA, complete cds.
AF403061 - Homo sapiens SEPTIN6 type IV (SEPTIN6) mRNA, complete cds.
AF403062 - Homo sapiens SEPTIN6 type V (SEPTIN6) mRNA, complete cds.
AL833677 - Homo sapiens mRNA; cDNA DKFZp667A0222 (from clone DKFZp667A0222).
AY034177 - Homo sapiens septin 6 mRNA, complete cds.
D50918 - Homo sapiens mRNA for KIAA0128 gene, partial cds.
AF403059 - Homo sapiens SEPTIN6 type II (SEPTIN6) mRNA, complete cds.
JD309989 - Sequence 291013 from Patent EP1572962.
JD428654 - Sequence 409678 from Patent EP1572962.
JD305136 - Sequence 286160 from Patent EP1572962.
JD406084 - Sequence 387108 from Patent EP1572962.
JD056424 - Sequence 37448 from Patent EP1572962.
JD347950 - Sequence 328974 from Patent EP1572962.
JD103715 - Sequence 84739 from Patent EP1572962.
JD104173 - Sequence 85197 from Patent EP1572962.
BC009291 - Homo sapiens septin 6, mRNA (cDNA clone MGC:16619 IMAGE:4111673), complete cds.
BC036240 - Homo sapiens septin 6, mRNA (cDNA clone MGC:39811 IMAGE:5298284), complete cds.
JD103838 - Sequence 84862 from Patent EP1572962.
JD565865 - Sequence 546889 from Patent EP1572962.
JD110713 - Sequence 91737 from Patent EP1572962.
JD534666 - Sequence 515690 from Patent EP1572962.
JD433915 - Sequence 414939 from Patent EP1572962.
JD208029 - Sequence 189053 from Patent EP1572962.
JD045624 - Sequence 26648 from Patent EP1572962.
JD046486 - Sequence 27510 from Patent EP1572962.
JD362434 - Sequence 343458 from Patent EP1572962.
JD500339 - Sequence 481363 from Patent EP1572962.
JD556713 - Sequence 537737 from Patent EP1572962.
HQ447923 - Synthetic construct Homo sapiens clone IMAGE:100071282; CCSB006705_02 septin 6 (SEPT6) gene, encodes complete protein.
AY005981 - Homo sapiens septin 6 mRNA, complete cds.
BC069231 - Homo sapiens septin 6, mRNA (cDNA clone MGC:78418 IMAGE:4852319), complete cds.
AF403058 - Homo sapiens SEPTIN6 type I (SEPTIN6) mRNA, complete cds.
JD426466 - Sequence 407490 from Patent EP1572962.
JD392549 - Sequence 373573 from Patent EP1572962.
AK299273 - Homo sapiens cDNA FLJ58747 complete cds, highly similar to Septin-6.
AK298487 - Homo sapiens cDNA FLJ59732 complete cds, highly similar to Septin-6.
JD086529 - Sequence 67553 from Patent EP1572962.
JD479007 - Sequence 460031 from Patent EP1572962.
JD140965 - Sequence 121989 from Patent EP1572962.
JD150612 - Sequence 131636 from Patent EP1572962.
JD461565 - Sequence 442589 from Patent EP1572962.
JD404159 - Sequence 385183 from Patent EP1572962.
AF512946 - Homo sapiens MLL/SEPTIN6 fusion protein mRNA, partial cds.
AK303224 - Homo sapiens cDNA FLJ59646 complete cds, highly similar to Septin-6.
AK303116 - Homo sapiens cDNA FLJ58821 complete cds, highly similar to Septin-6.
AB384441 - Synthetic construct DNA, clone: pF1KA0128, Homo sapiens SEPT6 gene for septin-6, complete cds, without stop codon, in Flexi system.
AF512945 - Homo sapiens MLL/SEPTIN6 fusion protein mRNA, partial cds.
AF512943 - Homo sapiens clone 1838-11 MLL/SEPTIN6 fusion protein mRNA, partial cds.
CU690318 - Synthetic construct Homo sapiens gateway clone IMAGE:100018284 5' read SEPT6 mRNA.
CU679289 - Synthetic construct Homo sapiens gateway clone IMAGE:100018286 5' read SEPT6 mRNA.
CU680116 - Synthetic construct Homo sapiens gateway clone IMAGE:100017251 5' read SEPT6 mRNA.
AF512944 - Homo sapiens clone 1838-14 MLL/SEPTIN6 fusion protein mRNA, partial cds.
JD055377 - Sequence 36401 from Patent EP1572962.
JD507557 - Sequence 488581 from Patent EP1572962.
JD211513 - Sequence 192537 from Patent EP1572962.
JD217723 - Sequence 198747 from Patent EP1572962.
JD278313 - Sequence 259337 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0128, NM_145799, NP_665799, Q14141, Q5JTK0, Q969W5, Q96A13, Q96GR1, Q96P86, Q96P87, SEP2, SEPT6, SEPT6_HUMAN
UCSC ID: uc004eru.3
RefSeq Accession: NM_145799
Protein: Q14141 (aka SEPT6_HUMAN or SEP6_HUMAN)
CCDS: CCDS14585.1, CCDS14584.1, CCDS14583.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_145799.3
exon count: 11CDS single in 3' UTR: no RNA size: 4716
ORF size: 1284CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2768.00frame shift in genome: no % Coverage: 99.58
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 1767# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.