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Aliases for SEPT5 Gene

Aliases for SEPT5 Gene

  • Septin 5 2 3
  • PNUTL1 3 4 6
  • CDCREL-1 3 4
  • CDCREL 3 6
  • 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
  • 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. Among its related pathways are ERK Signaling 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 SEPT6.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SEPT5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SEPT5 Gene at MOPED

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

Antibody Products

No data available for DME Specific Peptides for SEPT5 Gene

Domains for SEPT5 Gene

Gene Families for SEPT5 Gene

HGNC:

Protein Domains for SEPT5 Gene

Graphical View of Domain Structure for InterPro Entry

Q99719

UniProtKB/Swiss-Prot:

SEPT5_HUMAN :
  • Q99719
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 --
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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
plasma membrane 5
cytoskeleton 3
cytosol 3
extracellular 1
mitochondrion 1
nucleus 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:0031105 septin complex --
genes like me logo Genes that share ontologies with SEPT5: view

Pathways for SEPT5 Gene

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

Pathways by source for SEPT5 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SEPT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000910 cytokinesis TAS 9611266
GO:0006184 obsolete GTP catabolic process --
GO:0007049 cell cycle --
GO:0008152 metabolic process TAS 21563316
GO:0016080 synaptic vesicle targeting TAS 10321247
genes like me logo Genes that share ontologies with SEPT5: view

Transcripts for SEPT5 Gene

Unigene Clusters for SEPT5 Gene

Septin 5:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SEPT5

Primer Products

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 (5.8), Brain - Anterior cingulate cortex (BA24) (4.8), and Brain - Frontal Cortex (BA9) (4.5).

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for SEPT5 Gene

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 expressions with SEPT5: view

Expression partners for SEPT5 Gene

In Situ Assay 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 35
  • 91.96 (n)
  • 98.64 (a)
SEPT5 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT5 35
  • 92.23 (n)
  • 98.86 (a)
SEPT5 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept5 35
  • 89.52 (n)
  • 98.92 (a)
Sept5 16
Sept5 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEPT5 35
  • 99.73 (n)
  • 100 (a)
SEPT5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sept5 35
  • 89.3 (n)
  • 98.01 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 55 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SEP-05 35
  • 82.66 (n)
  • 93.77 (a)
SEP-05 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT5 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept5 35
  • 78.32 (n)
  • 92.14 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
sept5a 36
  • 82 (a)
OneToMany
sept5b 36
  • 83 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sep4 36
  • 50 (a)
OneToMany
Species with no ortholog for SEPT5:
  • 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 MAF
rs2518841 -- 19,714,361(+) GGCCG(C/T)GGTCT upstream-variant-2KB
rs2518842 -- 19,714,364(+) CGTGG(G/T)CTCGG upstream-variant-2KB
rs2518843 -- 19,714,384(+) GGGGG(A/G)CCTGG upstream-variant-2KB
rs2518844 -- 19,714,411(+) GCCGC(C/G)CTGGG upstream-variant-2KB
rs2518845 -- 19,714,537(+) CTTGT(C/T)GTcgc utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
esv2751940 CNV Gain 17911159
nsv834128 CNV Loss 17160897
nsv914279 CNV Loss 21882294
nsv914280 CNV Loss 21882294
dgv4841n71 CNV Loss 21882294
nsv828938 CNV Gain 20364138
nsv828939 CNV Loss 20364138
dgv4842n71 CNV Loss 21882294
nsv914283 CNV Loss 21882294
nsv517478 CNV Loss 19592680
nsv834129 CNV Loss 17160897
nsv914288 CNV Loss 21882294
dgv725n67 CNV Gain 20364138
nsv828943 CNV Loss 20364138

Relevant External Links for SEPT5 Gene

HapMap Linkage Disequilibrium report
SEPT5

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

Disorders for SEPT5 Gene

(4) Novoseek inferred disease relationships for SEPT5 Gene

Disease -log(P) Hits PubMed IDs
velo-cardio-facial syndrome 71.7 1
digeorge syndrome 60.2 1
leukemia 0 1
tumors 0 4
genes like me logo Genes that share disorders with SEPT5: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Genatlas and External Links for SEPT5 Gene

Publications for SEPT5 Gene

  1. 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
  2. Structure and expression of the human septin gene HCDCREL-1. (PMID: 9611266) Yagi M. … Ware J. (Gene 1998) 2 3 4
  3. A prototypic platelet septin and its participation in secretion. (PMID: 11880646) Dent J. … Ware J. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4
  4. Human septin-septin interaction: CDCrel-1 partners with KIAA0202. (PMID: 12023038) Blaeser S. … Zieger B. (FEBS Lett. 2002) 3 4
  5. Peanut-like 1 (septin 5) gene expression in normal and neoplastic human endocrine pancreas. (PMID: 16179808) Capurso G. … Delle Fave G. (Neuroendocrinology 2005) 3 23

Products for SEPT5 Gene

  • Addgene plasmids for SEPT5

Sources for SEPT5 Gene

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