Human Gene SEPTIN7 (ENST00000350320.11_11) from GENCODE V47lift37
  Description: septin 7, transcript variant 1 (from RefSeq NM_001788.6)
Gencode Transcript: ENST00000350320.11_11
Gencode Gene: ENSG00000122545.22_18
Transcript (Including UTRs)
   Position: hg19 chr7:35,840,667-35,946,720 Size: 106,054 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr7:35,840,820-35,943,903 Size: 103,084 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:35,840,667-35,946,720)mRNA (may differ from genome)Protein (437 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsMGIOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SEPT7_HUMAN
DESCRIPTION: RecName: Full=Septin-7; AltName: Full=CDC10 protein homolog;
FUNCTION: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements.
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 SEPT6, while interaction with SEPT2 seems indirect. In the absence of SEPT6, forms homodimers. Interacts directly with CENPE and links CENPE to septin filaments composed of SEPT2, SEPT6 and SEPT7. Interacts with SEPT5 and SEPT8 (By similarity). Interacts with SEPT9 and SEPT11.
SUBCELLULAR LOCATION: Cytoplasm. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Midbody. Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Note=Distributed throughout the cytoplasm in prometaphase cells. Associated with the spindle during metaphase. Associated with the central spindle and at the cleavage furrow in anaphase cells. Detected at the midbody in telophase. Associated with actin stress fibers (By similarity).
TISSUE SPECIFICITY: Widely expressed.
MISCELLANEOUS: Coordinated expression with SEPT2 and SEPT6.
SIMILARITY: Belongs to the septin family.
SEQUENCE CAUTION: Sequence=AAB31337.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH67264.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH93640.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH93642.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  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: 53.66 RPKM in Brain - Amygdala
Total median expression: 1419.09 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 -73.30153-0.479 Picture PostScript Text
3' UTR -723.402817-0.257 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
IPR008115 - Septin7

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

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
111384 - OmpH-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QAG - X-ray MuPIT 3T5D - X-ray MuPIT 3TW4 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q16181
FrontTopSide
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 orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGD   SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0042802 identical protein binding
GO:0045296 cadherin binding

Biological Process:
GO:0007049 cell cycle
GO:0007283 spermatogenesis
GO:0016476 regulation of embryonic cell shape
GO:0030154 cell differentiation
GO:0051291 protein heterooligomerization
GO:0051301 cell division
GO:0060271 cilium assembly
GO:1902857 positive regulation of non-motile cilium assembly

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0001725 stress fiber
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0005930 axoneme
GO:0030496 midbody
GO:0031105 septin complex
GO:0031514 motile cilium
GO:0032154 cleavage furrow
GO:0042995 cell projection
GO:0070062 extracellular exosome
GO:0097227 sperm annulus
GO:0097730 non-motile cilium
GO:0016324 apical plasma membrane


-  Descriptions from all associated GenBank mRNAs
  BC107718 - Homo sapiens septin 7, mRNA (cDNA clone IMAGE:6736843), partial cds.
AK290545 - Homo sapiens cDNA FLJ75185 complete cds.
AK298453 - Homo sapiens cDNA FLJ53636 complete cds, highly similar to Septin-7.
AK297883 - Homo sapiens cDNA FLJ52574 complete cds, highly similar to Septin-7.
AK223225 - Homo sapiens mRNA, Septin-7 variant, clone: STM03131.
AK223241 - Homo sapiens mRNA, Septin-7 variant, clone: STM05753.
BC025987 - Homo sapiens septin 7, mRNA (cDNA clone MGC:25988 IMAGE:4823810), complete cds.
S72008 - hCDC10=CDC10 homolog [human, fetal lung, mRNA, 2314 nt].
AB073389 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla02942, full insert sequence.
BX571755 - Homo sapiens mRNA; cDNA DKFZp686F17268 (from clone DKFZp686F17268).
BC093642 - Homo sapiens septin 7, mRNA (cDNA clone MGC:120677 IMAGE:7939487), complete cds.
BC093640 - Homo sapiens septin 7, mRNA (cDNA clone MGC:120675 IMAGE:7939485), complete cds.
DQ232879 - Homo sapiens septin 7 mRNA, complete cds.
BC067264 - Homo sapiens septin 7, mRNA (cDNA clone MGC:74862 IMAGE:6503495), complete cds.
KF305319 - Homo sapiens septin 7 variant 4 mRNA, complete cds, alternatively spliced.
AK300601 - Homo sapiens cDNA FLJ54551 complete cds, highly similar to Septin-7.
AB209677 - Homo sapiens mRNA for CDC10 protein variant protein.
HQ258243 - Synthetic construct Homo sapiens clone IMAGE:100072552 septin 7 (SEPT7) gene, encodes complete protein.
KJ901328 - Synthetic construct Homo sapiens clone ccsbBroadEn_10722 SEPT7 gene, encodes complete protein.
JD024632 - Sequence 5656 from Patent EP1572962.
JD020044 - Sequence 1068 from Patent EP1572962.
JD027725 - Sequence 8749 from Patent EP1572962.
AL050392 - Homo sapiens mRNA; cDNA DKFZp586I031 (from clone DKFZp586I031).
BC022442 - Homo sapiens septin 7, mRNA (cDNA clone IMAGE:4285044), with apparent retained intron.
BX648365 - Homo sapiens mRNA; cDNA DKFZp686M10191 (from clone DKFZp686M10191).
JD348534 - Sequence 329558 from Patent EP1572962.
JD274063 - Sequence 255087 from Patent EP1572962.
JD112934 - Sequence 93958 from Patent EP1572962.
JD566801 - Sequence 547825 from Patent EP1572962.
JD042189 - Sequence 23213 from Patent EP1572962.
JD298006 - Sequence 279030 from Patent EP1572962.
JD521838 - Sequence 502862 from Patent EP1572962.
JD323342 - Sequence 304366 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q16181 (Reactome details) participates in the following event(s):

R-HSA-5692770 SEPT7 binds p-S189 MAPK6 and p-T182 MAPKAPK5
R-HSA-5692775 SEPT7:p-S189 MAPK6:p-T182 MAPKAPK5 phosphorylates CDC42EPs
R-HSA-5687128 MAPK6/MAPK4 signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: CDC10, ENST00000350320.1, ENST00000350320.10, ENST00000350320.2, ENST00000350320.3, ENST00000350320.4, ENST00000350320.5, ENST00000350320.6, ENST00000350320.7, ENST00000350320.8, ENST00000350320.9, NM_001788, Q16181, Q52M76, Q6NX50, SEPT7, SEPT7_HUMAN, SEPTIN7 , uc317xyt.1, uc317xyt.2
UCSC ID: ENST00000350320.11_11
RefSeq Accession: NM_001788.6
Protein: Q16181 (aka SEPT7_HUMAN or SEP7_HUMAN)

-  Gene Model Information
  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.