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Aliases for SEPT5 Gene

Aliases for SEPT5 Gene

  • Septin 5 2 3 5
  • CDCREL-1 3 4
  • PNUTL1 3 4
  • Cell Division Control Related Protein 1 3
  • Cell Division Control-Related Protein 1 4
  • Platelet Glycoprotein Ib Beta Chain 3
  • Peanut-Like 1 (Drosophila) 2
  • Peanut-Like Protein 1 4
  • Peanut-Like 1 3
  • HCDCREL-1 3
  • Septin-5 3
  • CDCREL1 3
  • CDCREL 3
  • H5 3

External Ids for SEPT5 Gene

Previous HGNC Symbols for SEPT5 Gene

  • PNUTL1

Previous GeneCards Identifiers for SEPT5 Gene

  • GC22P018077
  • GC22P003322

Summaries for SEPT5 Gene

Entrez Gene Summary for SEPT5 Gene

  • This gene is a member of the septin gene 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 mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]

GeneCards Summary for SEPT5 Gene

SEPT5 (Septin 5) is a Protein Coding gene. Diseases associated with SEPT5 include Digeorge Syndrome. Among its related pathways are Proteolysis_Putative ubiquitin pathway and Actin Nucleation by ARP-WASP Complex. GO annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is SEPT4.

UniProtKB/Swiss-Prot for SEPT5 Gene

  • Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity).

Gene Wiki entry for SEPT5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT5 Gene

Genomics for SEPT5 Gene

Regulatory Elements for SEPT5 Gene

Enhancers for SEPT5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SEPT5 on UCSC Golden Path with GeneCards custom track

Promoters for SEPT5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for SEPT5 Gene

Chromosome:
22
Start:
19,714,464 bp from pter
End:
19,724,772 bp from pter
Size:
10,309 bases
Orientation:
Plus strand

Genomic View for SEPT5 Gene

Genes around SEPT5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT5 Gene

Proteins for SEPT5 Gene

  • Protein details for SEPT5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99719-SEPT5_HUMAN
    Recommended name:
    Septin-5
    Protein Accession:
    Q99719
    Secondary Accessions:
    • O15251
    • Q96MY5

    Protein attributes for SEPT5 Gene

    Size:
    369 amino acids
    Molecular mass:
    42777 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). Interacts with SEPT2 and SEPT5. In platelets, associated with a complex containing STX4. Interacts with PARK2. This interaction leads to SEPT5 ubiquitination and degradation (By similarity).
    Miscellaneous:
    • In a heterologous system, SEPT5 overexpression has been shown to exert dopamine-dependent neurotoxicity. As wild-type PARK2, but not familial-linked PARK2 mutants, ubiquitinates mouse SEPT5 and promotes its degradation, it has been sugested that a deficiency in SEPT5 degradation may contribute to the development of early onset Parkinson disease 2 (PARK2).

    Alternative splice isoforms for SEPT5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPT5 Gene

Post-translational modifications for SEPT5 Gene

  • In platelets, phosphorylated in response to thrombin, phorbol-12-myristate-13-acetate and collagen.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SEPT5 Gene

Domains & Families for SEPT5 Gene

Gene Families for SEPT5 Gene

Protein Domains for SEPT5 Gene

Graphical View of Domain Structure for InterPro Entry

Q99719

UniProtKB/Swiss-Prot:

SEPT5_HUMAN :
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Domain:
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
genes like me logo Genes that share domains with SEPT5: view

No data available for Suggested Antigen Peptide Sequences for SEPT5 Gene

Function for SEPT5 Gene

Molecular function for SEPT5 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity).

Gene Ontology (GO) - Molecular Function for SEPT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS 21563316
GO:0005198 structural molecule activity TAS 9611266
GO:0005515 protein binding IPI 10321247
GO:0005525 GTP binding IEA --
GO:0019905 syntaxin binding IEA --
genes like me logo Genes that share ontologies with SEPT5: view
genes like me logo Genes that share phenotypes with SEPT5: view

Animal Models for SEPT5 Gene

MGI Knock Outs for SEPT5:

Animal Model Products

CRISPR Products

miRNA for SEPT5 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEPT5

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPT5 Gene

Localization for SEPT5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT5 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=In platelets, found in areas surrounding alpha-granules.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEPT5 Gene COMPARTMENTS Subcellular localization image for SEPT5 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SEPT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA 10321247
GO:0005938 cell cortex IEA --
GO:0008021 synaptic vesicle IDA 10321247
GO:0043195 terminal bouton IEA --
genes like me logo Genes that share ontologies with SEPT5: view

Pathways & Interactions for SEPT5 Gene

genes like me logo Genes that share pathways with SEPT5: view

Pathways by source for SEPT5 Gene

Gene Ontology (GO) - Biological Process for SEPT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000910 cytokinesis TAS 9611266
GO:0016080 synaptic vesicle targeting TAS 10321247
GO:0017157 regulation of exocytosis IMP 10321247
GO:0045921 positive regulation of exocytosis IEA --
GO:2000300 regulation of synaptic vesicle exocytosis TAS 21563316
genes like me logo Genes that share ontologies with SEPT5: view

No data available for SIGNOR curated interactions for SEPT5 Gene

Drugs & Compounds for SEPT5 Gene

No Compound Related Data Available

Transcripts for SEPT5 Gene

Unigene Clusters for SEPT5 Gene

Septin 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEPT5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT5 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ·
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6:
SP7:
SP8: -
SP9:

ExUns: 13c ^ 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for SEPT5 Gene

GeneLoc Exon Structure for
SEPT5
ECgene alternative splicing isoforms for
SEPT5

Expression for SEPT5 Gene

mRNA expression in normal human tissues for SEPT5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEPT5 Gene

This gene is overexpressed in Brain - Cortex (x5.8), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Frontal Cortex (BA9) (x4.5).

Protein differential expression in normal tissues from HIPED for SEPT5 Gene

This gene is overexpressed in Frontal cortex (26.2), Brain (15.8), Fetal Brain (9.6), and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEPT5 Gene



Protein tissue co-expression partners for SEPT5 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for SEPT5 Gene:

Hs.728762

mRNA Expression by UniProt/SwissProt for SEPT5 Gene:

Q99719-SEPT5_HUMAN
Tissue specificity: Expressed at high levels in the CNS, as well as in heart and platelets (at protein level).
genes like me logo Genes that share expression patterns with SEPT5: view

Primer Products

Orthologs for SEPT5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPT5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEPT5 34
  • 91.96 (n)
  • 98.64 (a)
SEPT5 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT5 34
  • 92.23 (n)
  • 98.86 (a)
SEPT5 35
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEPT5 35
  • 99 (a)
OneToOne
SEPT5 34
  • 99.73 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Sept5 35
  • 99 (a)
OneToOne
Sept5 16
Sept5 34
  • 89.52 (n)
  • 98.92 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 55 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Sept5 34
  • 89.3 (n)
  • 98.01 (a)
chicken
(Gallus gallus)
Aves SEP-05 35
  • 93 (a)
OneToOne
SEP-05 34
  • 82.66 (n)
  • 93.77 (a)
lizard
(Anolis carolinensis)
Reptilia SEPT5 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept5 34
  • 78.32 (n)
  • 92.14 (a)
zebrafish
(Danio rerio)
Actinopterygii sept5b 35
  • 83 (a)
OneToMany
sept5a 35
  • 82 (a)
OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Sep4 35
  • 50 (a)
OneToMany
Species where no ortholog for SEPT5 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for SEPT5 Gene

ENSEMBL:
Gene Tree for SEPT5 (if available)
TreeFam:
Gene Tree for SEPT5 (if available)

Paralogs for SEPT5 Gene

genes like me logo Genes that share paralogs with SEPT5: view

Variants for SEPT5 Gene

Sequence variations from dbSNP and Humsavar for SEPT5 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs9605010 -- 19,712,638(+) CCTGT(C/T)TATGC upstream-variant-2KB
rs78916272 -- 19,714,987(+) TCCCC(G/T)GACCC intron-variant
rs111705451 -- 19,712,892(+) TTTTA(A/G)TAGAC upstream-variant-2KB
rs140763087 -- 19,713,081(+) AATAC(-/AT)ATGTT upstream-variant-2KB
rs189337797 -- 19,712,808(+) GAGTT(C/T)AAGTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SEPT5 Gene

Variant ID Type Subtype PubMed ID
dgv725n67 CNV gain 20364138
esv2751940 CNV gain 17911159
esv3575418 CNV gain 25503493
esv3647279 CNV gain 21293372
esv3893434 CNV gain 25118596
nsv517478 CNV loss 19592680
nsv588216 CNV gain 21841781
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv828943 CNV loss 20364138
nsv834128 CNV loss 17160897
nsv834129 CNV loss 17160897
nsv953023 CNV deletion 24416366

Variation tolerance for SEPT5 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEPT5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPT5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT5 Gene

Disorders for SEPT5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEPT5 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
- elite association - COSMIC cancer census association via MalaCards
Search SEPT5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SEPT5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT5
genes like me logo Genes that share disorders with SEPT5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT5 Gene

Publications for SEPT5 Gene

  1. Structure and expression of the human septin gene HCDCREL-1. (PMID: 9611266) Yagi M. … Ware J. (Gene 1998) 2 3 4 65
  2. A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. (PMID: 9385360) McKie J. … Scambler P.J. (Hum. Genet. 1997) 2 3 4 65
  3. Cyclin-dependent kinase 5 phosphorylation of human septin SEPT5 (hCDCrel-1) modulates exocytosis. (PMID: 18385322) Amin N.D. … Pant H.C. (J. Neurosci. 2008) 3 22 65
  4. Septin expression in proliferative retinal membranes. (PMID: 17625225) Xin X. … Meyer P. (J. Histochem. Cytochem. 2007) 3 22 65
  5. Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. (PMID: 16767699) BlAoser S. … Zieger B. (J. Pathol. 2006) 3 22 65

Products for SEPT5 Gene

Sources for SEPT5 Gene

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