Human Gene SEPTIN4 (uc002iwk.2)
  Description: Homo sapiens septin 4 (SEPTIN4), transcript variant 3, mRNA.
RefSeq Summary (NM_001256822): This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010].
Transcript (Including UTRs)
   Position: hg19 chr17:56,597,611-56,604,347 Size: 6,737 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr17:56,597,787-56,603,590 Size: 5,804 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 (chr17:56,597,611-56,604,347)mRNA (may differ from genome)Protein (331 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HPRDLynxMGIneXtProtOMIMPubMed
TreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SEPT4_HUMAN
DESCRIPTION: RecName: Full=Septin-4; AltName: Full=Apoptosis-related protein in the TGF-beta signaling pathway; Short=ARTS; AltName: Full=Bradeion beta; AltName: Full=Brain protein H5; AltName: Full=CE5B3 beta; AltName: Full=Cell division control-related protein 2; Short=hCDCREL-2; AltName: Full=Cerebral protein 7; AltName: Full=Peanut-like protein 2;
FUNCTION: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of cell death mediated by TGF-beta and by other apoptotic stimuli.
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 (By similarity). Interacts with SEPT8. In a mesenchymal cell line, interacts with SEPT9 isoform 2 variants HNA Trp-106 and Phe-111, but not the wild type SEPT9. Isoform ARTS, but no other isoforms, interacts with XIAP after the induction of apoptosis.
INTERACTION: Q8IUQ4:SIAH1; NbExp=2; IntAct=EBI-4372019, EBI-747107; P98170:XIAP; NbExp=4; IntAct=EBI-4372019, EBI-517127;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In platelets, found in areas surrounding alpha-granules.
SUBCELLULAR LOCATION: Isoform ARTS: Mitochondrion. Nucleus. Note=While predominantly localized in the mitochondria under resting conditions, isoform ARTS translocates into the nucleus after TGF-beta treatment and apoptosis induction.
TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues with highest expression in adult brain (at protein level), heart, liver and adrenal gland and fetal heart, kidney, liver and lung. Also expressed in colorectal cancers and malignant melanomas. Expressed in platelets.
SIMILARITY: Belongs to the septin family.

-  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: 257.27 RPKM in Brain - Substantia nigra
Total median expression: 2456.19 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 -117.00389-0.301 Picture PostScript Text
3' UTR -35.51176-0.202 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

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

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

ModBase Predicted Comparative 3D Structure on O43236
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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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0003924 GTPase activity
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006915 apoptotic process
GO:0007049 cell cycle
GO:0007283 spermatogenesis
GO:0007286 spermatid development
GO:0007420 brain development
GO:0030154 cell differentiation
GO:0030382 sperm mitochondrion organization
GO:0031398 positive regulation of protein ubiquitination
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0048240 sperm capacitation
GO:0051260 protein homooligomerization
GO:0051301 cell division
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0031105 septin complex
GO:0031514 motile cilium
GO:0036126 sperm flagellum
GO:0042995 cell projection
GO:0043209 myelin sheath
GO:0097227 sperm annulus


-  Descriptions from all associated GenBank mRNAs
  AK294094 - Homo sapiens cDNA FLJ55659 complete cds, highly similar to Septin-4.
AF035811 - Homo sapiens protein H5 (H5) mRNA, complete cds.
AF073312 - Homo sapiens peanut-like 2 (PNUTL2) mRNA, complete cds.
AF176379 - Homo sapiens mitochondrial ARTS protein (SEPT4) mRNA, complete cds; nuclear gene for mitochondrial product.
AK094579 - Homo sapiens cDNA FLJ37260 fis, clone BRAMY2010441, highly similar to Septin-4.
AK091065 - Homo sapiens cDNA FLJ33746 fis, clone BRCAN1000105, highly similar to Homo sapiens septin 4 (SEPT4), transcript variant 2, mRNA.
AX746762 - Sequence 287 from Patent EP1308459.
U88829 - Human cell division control-related 2a protein (hcdcrel-2a) mRNA, complete cds.
AB008753 - Homo sapiens CE5B3 beta mRNA for Bradeion beta, complete cds.
BC018056 - Homo sapiens septin 4, mRNA (cDNA clone MGC:26440 IMAGE:4811662), complete cds.
U88870 - Human cell division control-related protein 2b (hcdcrel2b) mRNA, complete cds.
AB002110 - Homo sapiens CE5B3 alpha mRNA for Bradeion alpha, complete cds.
AK301914 - Homo sapiens cDNA FLJ55761 complete cds, highly similar to Septin-4.
BC142968 - Homo sapiens cDNA clone IMAGE:8860389, with apparent retained intron.
BC018055 - Homo sapiens septin 4, mRNA (cDNA clone IMAGE:4792645).
JD086150 - Sequence 67174 from Patent EP1572962.
JD423522 - Sequence 404546 from Patent EP1572962.
JD390489 - Sequence 371513 from Patent EP1572962.
AK302146 - Homo sapiens cDNA FLJ55183 complete cds, highly similar to Septin-4.
JD398572 - Sequence 379596 from Patent EP1572962.
JD352806 - Sequence 333830 from Patent EP1572962.
JD562681 - Sequence 543705 from Patent EP1572962.
CR457111 - Homo sapiens full open reading frame cDNA clone RZPDo834B0112D for gene PNUTL2, peanut-like 2 (Drosophila); complete cds, incl. stopcodon.
D89278 - Homo sapiens hucep-7 mRNA for cerebral protein-7, complete cds.
AK315045 - Homo sapiens cDNA, FLJ95992.
AK315396 - Homo sapiens cDNA, FLJ96444, highly similar to Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.
DQ892336 - Synthetic construct clone IMAGE:100004966; FLH185442.01X; RZPDo839B03148D septin 4 (SEPT4) gene, encodes complete protein.
DQ895541 - Synthetic construct Homo sapiens clone IMAGE:100010001; FLH185438.01L; RZPDo839B03147D septin 4 (SEPT4) gene, encodes complete protein.
KJ891839 - Synthetic construct Homo sapiens clone ccsbBroadEn_01233 SEPT4 gene, encodes complete protein.
JD538579 - Sequence 519603 from Patent EP1572962.
JD214920 - Sequence 195944 from Patent EP1572962.
JD454605 - Sequence 435629 from Patent EP1572962.
JD173001 - Sequence 154025 from Patent EP1572962.
JD174944 - Sequence 155968 from Patent EP1572962.
AK308957 - Homo sapiens cDNA, FLJ98998.
JD050428 - Sequence 31452 from Patent EP1572962.
JD042958 - Sequence 23982 from Patent EP1572962.
JD085390 - Sequence 66414 from Patent EP1572962.
BC128255 - Homo sapiens cDNA clone IMAGE:40115847, containing frame-shift errors.
BC128515 - Homo sapiens septin 4, mRNA (cDNA clone IMAGE:40115845).
JD246070 - Sequence 227094 from Patent EP1572962.
AK126631 - Homo sapiens cDNA FLJ44671 fis, clone BRACE3005989.
JD375880 - Sequence 356904 from Patent EP1572962.
JD101153 - Sequence 82177 from Patent EP1572962.
AK295527 - Homo sapiens cDNA FLJ59897 complete cds, highly similar to Septin-4.
JD042053 - Sequence 23077 from Patent EP1572962.
AK314528 - Homo sapiens cDNA, FLJ95349, highly similar to Homo sapiens septin 4 (SEPT4), transcript variant 4, mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: ARTS, B2RD42, B3KSX9, B4DXC6, B4DXV5, DQ895541, hucep-7, NM_001256822, NP_001243751, O43236, PNUTL2, Q6IAP3, Q9H315, Q9UM58, SEP4, SEPT4, SEPT4_HUMAN
UCSC ID: uc002iwk.2
RefSeq Accession: NM_001256822
Protein: O43236 (aka SEPT4_HUMAN or SEP4_HUMAN)
CCDS: CCDS58581.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: DQ895541.2
exon count: 11CDS single in 3' UTR: no RNA size: 1420
ORF size: 996CDS single in intron: no Alignment % ID: 99.71
txCdsPredict score: 1890.50frame shift in genome: no % Coverage: 97.39
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: 8# 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.