Aliases for SEPT3 Gene
External Ids for SEPT3 Gene
- HGNC: 10750
- Entrez Gene: 55964
- Ensembl: ENSG00000100167
- OMIM: 608314
- UniProtKB: Q9UH03
Previous HGNC Symbols for SEPT3 Gene
- SEP3
Previous GeneCards Identifiers for SEPT3 Gene
- GC22P038987
- GC22P040616
- GC22P040697
- GC22P042372
- GC22P025339
Summaries for SEPT3 Gene
-
This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for SEPT3 Gene
SEPT3 (Septin 3) is a Protein Coding gene. Diseases associated with SEPT3 include Teratocarcinoma and Sexual Disorder. Among its related pathways are Bacterial invasion of epithelial cells. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is SEPT9.
UniProtKB/Swiss-Prot for SEPT3 Gene
-
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT3 Gene
Genomics for SEPT3 Gene
Regulatory Elements for SEPT3 Gene
Enhancers for SEPT3 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SEPT3 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SEPT3 gene promoter:
Regulatory Element Products
Genomic Location for SEPT3 Gene
- Chromosome:
- 22
- Start:
- 41,976,272 bp from pter
- End:
- 41,998,221 bp from pter
- Size:
- 21,950 bases
- Orientation:
- Plus strand
Genomic View for SEPT3 Gene
Genes around SEPT3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.2 by Ensembl
- 22q13.2 by Entrez Gene
- 22q13.2 by HGNC
SEPT3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SEPT3 Gene
Proteins for SEPT3 Gene
-
Protein details for SEPT3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UH03-SEPT3_HUMAN
- Recommended name:
- Neuronal-specific septin-3
- Protein Accession:
- Q9UH03
- B1AHR0
- Q2NKJ7
- Q59GF7
- Q6IBZ6
- Q8N3P3
- Q9HD35
Protein attributes for SEPT3 Gene
- Size:
- 358 amino acids
- Molecular mass:
- 40704 Da
- Quaternary structure:
-
- 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).
- SequenceCaution:
-
- Sequence=AAG00517.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAG00518.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAG00519.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI11780.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD38797.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAG30458.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for SEPT3 Gene
Post-translational modifications for SEPT3 Gene
- Phosphorylated by PKG on serine residues. Phosphorylated by PKG on Ser-91 (By similarity).
- Ubiquitination at Lys226
- Modification sites at PhosphoSitePlus
Other Protein References for SEPT3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SEPT3
- Novus Biologicals Antibodies for SEPT3
-
Abcam antibodies for SEPT3
- Invitrogen Antibodies for SEPT3
- antibodies-online Antibodies for SEPT3: See all 55
- GeneTex SEPT3 antibody for SEPT3
-
Santa Cruz Biotechnology (SCBT) Antibodies for SEPT3
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for SEPT3
- Origene Custom Protein Services for SEPT3
- ProSpec Recombinant Proteins for SEPT3
- antibodies-online Proteins for SEPT3: See all 8
- Search antibodies-online for peptides
- Search GeneTex for Proteins for SEPT3
-
Abcam proteins for SEPT3
Assay Products
- antibodies-online Kits for SEPT3: See all 8
No data available for DME Specific Peptides for SEPT3 Gene
Domains & Families for SEPT3 Gene
Gene Families for SEPT3 Gene
- HGNC:
Protein Domains for SEPT3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
Q9UH03UniProtKB/Swiss-Prot:
SEPT3_HUMAN :- Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
- Family:
-
- Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
No data available for Suggested Antigen Peptide Sequences for SEPT3 Gene
Function for SEPT3 Gene
Molecular function for SEPT3 Gene
- UniProtKB/Swiss-Prot Function:
- Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).
- UniProtKB/Swiss-Prot Induction:
- Up-regulated during neuronal differentiation.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0005525 | GTP binding | IEA | -- |
| GO:0042802 | identical protein binding | IPI | 25416956 |
Phenotypes for SEPT3 Gene
- MGI mutant phenotypes for SEPT3:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for SEPT3:
Animal Models for SEPT3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Search ViGene Biosciences for SEPT3
miRNA for SEPT3 Gene
- miRTarBase miRNAs that target SEPT3
-
- hsa-mir-7856-5p (MIRT441662)
- hsa-mir-4477b (MIRT441663)
- hsa-mir-671-5p (MIRT441664)
- hsa-mir-4725-5p (MIRT441665)
- hsa-mir-4786-3p (MIRT441666)
- hsa-mir-651-3p (MIRT441667)
- hsa-mir-8485 (MIRT607379)
- hsa-mir-377-3p (MIRT608287)
- hsa-mir-6873-3p (MIRT637043)
- hsa-mir-215-3p (MIRT637044)
- hsa-mir-6773-3p (MIRT637045)
- hsa-mir-6817-3p (MIRT637046)
- hsa-mir-7110-3p (MIRT671525)
miRNA Products
- Search ViGene Biosciences for SEPT3
Inhibitory RNA Products
- Origene shRNA and siRNA products in human, mouse, rat for SEPT3
- Browse OriGene Inhibitory RNA Products For SEPT3
- Search ViGene Biosciences for SEPT3
Cell Line Products
-
Horizon Cell Lines for SEPT3
-
ViGene Biosciences adenoviral particle packaged cDNA for SEPT3 gene
- Search ViGene Biosciences for SEPT3
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPT3 Gene
Localization for SEPT3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SEPT3 Gene
- Cytoplasm. Cytoplasm, cytoskeleton. Cell junction, synapse.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| plasma membrane | 3 |
| nucleus | 3 |
| cytosol | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
| GO:0045202 | synapse | IEA | -- |
Pathways & Interactions for SEPT3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Bacterial invasion of epithelial cells | ||
Pathways by source for SEPT3 Gene
1 KEGG pathway for SEPT3 Gene
Interacting Proteins for SEPT3 Gene
Selected Interacting proteins:
Q9UH03-SEPT3_HUMAN
ENSP00000379704
for SEPT3 Gene via
IID
STRING
MINT
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007049 | cell cycle | IEA | -- |
| GO:0051301 | cell division | IEA | -- |
No data available for SIGNOR curated interactions for SEPT3 Gene
Transcripts for SEPT3 Gene
mRNA/cDNA for SEPT3 Gene
- (4) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (214) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
miRNA Products
- Search ViGene Biosciences for SEPT3
Inhibitory RNA Products
- Origene shRNA and siRNA products in human, mouse, rat for SEPT3
- Browse OriGene Inhibitory RNA Products For SEPT3
- Search ViGene Biosciences for SEPT3
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||
| SP6: |
Expression for SEPT3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Mesoderm (Gastrulation Derivatives)
- Mesothelial Cells Hepatic Mesenchyme
-
Liver (Hepatobiliary System)
- Mesothelial Cells Hepatic Mesenchyme
-
Epiblast (Early Embryonic Tissues)
- Intraembryonic Epiblast Cells Epiblast
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for SEPT3 Gene
This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x7.0), Brain - Frontal Cortex (BA9) (x6.2), Brain - Cortex (x5.8), Brain - Amygdala (x5.5), Brain - Hippocampus (x5.1), and Brain - Cerebellar Hemisphere (x4.2).
This gene is overexpressed in Frontal cortex (29.1), Fetal Brain (21.8), and Brain (12.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEPT3 Gene
- Elite partner
SOURCE GeneReport for Unigene cluster for SEPT3 Gene:
Hs.120483mRNA Expression by UniProt/SwissProt for SEPT3 Gene:
Q9UH03-SEPT3_HUMAN
Tissue specificity:
Brain-specific.
Evidence on tissue expression from TISSUES for SEPT3 Gene
- Nervous system(5)
Primer Products
-
OriGene qPCR primer pairs for SEPT3
-
OriGene qPCR primer pairs and template standards for SEPT3
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT3 Gene
Orthologs for SEPT3 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SEPT3 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | SEPT3 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | SEPT3 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SEPT3 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Sept3 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sept3 34 |
|
||
| chicken (Gallus gallus) |
Aves | SEPT3 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SEPT3 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sept3 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sept3 34 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDC3 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8439 35 |
|
OneToMany |
- Species where no ortholog for SEPT3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for SEPT3 Gene
(16) SIMAP similar genes for SEPT3 Gene using alignment to 5 proteins:
Variants for SEPT3 Gene
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000082910 | -- | 41,974,234(+) | CCCGG(G/T)ATTGT | intron-variant | |
| rs1000083081 | -- | 41,984,307(+) | TTTTC(G/T)AATAT | intron-variant | |
| rs1000183224 | -- | 41,980,484(+) | ACAGT(C/T)TTAGT | intron-variant | |
| rs1000462505 | -- | 41,987,363(+) | ATTCA(C/T)GTTGA | intron-variant | |
| rs1000654027 | -- | 41,972,060(+) | GTTCC(C/T)ACCTA | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1057208 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
47.5% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SEPT3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SEPT3
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT3 Gene
Disorders for SEPT3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| teratocarcinoma |
|
|
| sexual disorder |
|
|
Search SEPT3 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for SEPT3
No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT3 Gene
Publications for SEPT3 Gene
- Human septin 3 on chromosome 22q13.2 is upregulated by neuronal differentiation. (PMID: 11322766) Methner A. … Lewerenz J. (Biochem. Biophys. Res. Commun. 2001) 3 4 22 64
- The structure and properties of septin 3: a possible missing link in septin filament formation. (PMID: 23163726) Macedo J.N. … Araujo A.P. (Biochem. J. 2013) 3 4 64
- Phosphorylation of septin 3 on Ser-91 by cGMP-dependent protein kinase-I in nerve terminals. (PMID: 15107017) Xue J. … Robinson P.J. (Biochem. J. 2004) 3 22 64
- Septin 3 gene polymorphism in Alzheimer's disease. (PMID: 15200238) Takehashi M. … Ueda K. (Gene Expr. 2004) 3 22 64
- A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
Products for SEPT3 Gene
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- Custom Antibody ServicesOriGene Antibodies for SEPT3
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- Novus Biologicals Antibodies for SEPT3
- Novus Biologicals proteins and lysates for SEPT3
- Novus Biologicals
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- Abcam antibodies for SEPT3
- Abcam proteins for SEPT3
- Search for Assays for SEPT3 at Abcam
- Find your target
- Search knockout validated antibodies
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- ProSpec Recombinant Proteins for SEPT3
- antibodies-online Antibodies for SEPT3: See all 55
- antibodies-online Kits for SEPT3: See all 8
- antibodies-online Proteins for SEPT3: See all 8
- Search antibodies-online for peptides
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- Search ViGene Biosciences for SEPT3
- Santa Cruz Biotechnology (SCBT) Antibodies for SEPT3
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- VectorBuilder custom plasmid, inducible vectors for SEPT3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SEPT3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for SEPT3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
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- (92) Vector BioLabs
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- (94) RefSeq
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- (96) MaxQB
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- (98) BioGPS
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- (100) COMPARTMENTS
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- (105) antibodies-online
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- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
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