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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
  • 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 and velocardiofacial syndrome. 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

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

ENSRs around SEPT5 on UCSC Golden Path with GeneCards custom track

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

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 & 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).
genes like me logo Genes that share phenotypes with SEPT5: view

Animal Models for SEPT5 Gene

MGI Knock Outs for SEPT5:

miRNA for SEPT5 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0043679 axon terminus 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

None

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:

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, 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 expression patterns with SEPT5: view

Protein tissue co-expression partners for SEPT5 Gene

- Elite partner

Primer Products

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
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

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

HapMap Linkage Disequilibrium report
SEPT5

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

Disorders for SEPT5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
velocardiofacial syndrome
  • cayler cardiofacial syndrome
- 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 67
  2. 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 23
  3. Septin expression in proliferative retinal membranes. (PMID: 17625225) Xin X. … Meyer P. (J. Histochem. Cytochem. 2007) 3 23
  4. Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. (PMID: 16767699) BlAoser S. … Zieger B. (J. Pathol. 2006) 3 23
  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

Sources for SEPT5 Gene

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