Human Gene SEPTIN11 (ENST00000510515.5) from GENCODE V44
  Description: Homo sapiens septin 11 (SEPTIN11), transcript variant 1, mRNA. (from RefSeq NM_001306147)
RefSeq Summary (NM_001306147): SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009].
Gencode Transcript: ENST00000510515.5
Gencode Gene: ENSG00000138758.12
Transcript (Including UTRs)
   Position: hg38 chr4:76,949,837-77,034,821 Size: 84,985 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr4:76,995,882-77,034,512 Size: 38,631 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:76,949,837-77,034,821)mRNA (may differ from genome)Protein (439 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHPRD
MalacardsMGIneXtProtOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SEP11_HUMAN
DESCRIPTION: RecName: Full=Septin-11;
FUNCTION: Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity). During Listeria monocytogenes infection, not required for the bacterial entry process, but restricts its efficacy.
SUBUNIT: Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation. Interacts with SEPT7, SEPT9 and SEPT12. Forms homooligomers.
INTERACTION: Q99719:SEPT5; NbExp=6; IntAct=EBI-957999, EBI-373345;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell junction, synapse. Cell projection, dendritic spine. Cell projection, axon (By similarity). Note=Partly colocalizes with stress fibers and microtubules. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria.
TISSUE SPECIFICITY: Widely expressed, except in leukocytes.
DISEASE: Note=A chromosomal aberration involving SEPT11 may be a cause of chronic neutrophilic leukemia. Translocation t(4;11)(q21;q23) with MLL/HRX.
SIMILARITY: Belongs to the septin family.
SEQUENCE CAUTION: Sequence=BAB55250.1; Type=Erroneous initiation; Sequence=CAB53741.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

-  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


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.62 RPKM in Cells - Cultured fibroblasts
Total median expression: 568.42 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -85.30257-0.332 Picture PostScript Text
3' UTR -76.90309-0.249 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

ModBase Predicted Comparative 3D Structure on Q9NVA2
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

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

Biological Process:
GO:0007049 cell cycle
GO:0051291 protein heterooligomerization
GO:0051301 cell division

Cellular Component:
GO:0001725 stress fiber
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0030054 cell junction
GO:0030424 axon
GO:0042995 cell projection
GO:0043197 dendritic spine
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  BC008083 - Homo sapiens septin 11, mRNA (cDNA clone MGC:927 IMAGE:2966709), complete cds.
GQ891533 - Homo sapiens clone HEL-S-254 epididymis secretory sperm binding protein mRNA, complete cds.
BC064934 - Homo sapiens cDNA clone IMAGE:6150586, partial cds.
AK001711 - Homo sapiens cDNA FLJ10849 fis, clone NT2RP4001414, highly similar to SEPTIN 2 HOMOLOG.
JD138592 - Sequence 119616 from Patent EP1572962.
AL110300 - Homo sapiens mRNA; cDNA DKFZp566C224 (from clone DKFZp566C224).
AK302700 - Homo sapiens cDNA FLJ53374 complete cds, highly similar to Septin-11.
BC063615 - Homo sapiens septin 11, mRNA (cDNA clone MGC:74991 IMAGE:3848367), complete cds.
KJ894254 - Synthetic construct Homo sapiens clone ccsbBroadEn_03648 SEPT11 gene, encodes complete protein.
GU727629 - Homo sapiens epididymis tissue protein Li 179 mRNA, complete cds.
AB587498 - Synthetic construct DNA, clone: pF1KB9189, Homo sapiens SEPT11 gene for septin 11, without stop codon, in Flexi system.
AK027279 - Homo sapiens cDNA FLJ14373 fis, clone HEMBA1001595, highly similar to SEPTIN 2 HOMOLOG.
AK027633 - Homo sapiens cDNA FLJ14727 fis, clone NT2RP3001730, highly similar to SEPTIN 2 HOMOLOG.
AK094473 - Homo sapiens cDNA FLJ37154 fis, clone BRACE2026054, highly similar to SEPTIN 2.
AK124592 - Homo sapiens cDNA FLJ42601 fis, clone BRACE3010438.
CR627457 - Homo sapiens mRNA; cDNA DKFZp686M01112 (from clone DKFZp686M01112).
FW340024 - Screening.
JD098935 - Sequence 79959 from Patent EP1572962.
JD090840 - Sequence 71864 from Patent EP1572962.
JD260126 - Sequence 241150 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z7Z6, E9KL32, ENST00000510515.1, ENST00000510515.2, ENST00000510515.3, ENST00000510515.4, NM_001306147, Q4W5G1, Q7L4N1, Q96SP1, Q9NVA2, Q9UFY9, SEP11_HUMAN, SEPT11, uc011cca.1, uc011cca.2, uc011cca.3
UCSC ID: ENST00000510515.5
RefSeq Accession: NM_001306147
Protein: Q9NVA2 (aka SEP11_HUMAN or SE11_HUMAN)
CCDS: CCDS77931.1, CCDS34018.1

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