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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 Velocardiofacial Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Proteolysis_Putative ubiquitin pathway. Gene Ontology (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

Additional gene information for SEPT5 Gene

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

Genomics for SEPT5 Gene

GeneHancer (GH) Regulatory Elements for SEPT5 Gene

Promoters and enhancers for SEPT5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I019717 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +4.2 4222 2.3 HDGF PKNOX1 ARNT SIN3A ZNF2 POLR2B ZNF207 ZNF143 ZNF263 SP5 SEPT5 SEPT5-GP1BB DGCR8 LINC01311 RANBP1 ZNF74 TRMT2A UFD1 ABHD17AP4 KLHL22
GH22I019714 Promoter 1.7 EPDnew Ensembl 550.8 +0.0 37 1 HDGF PKNOX1 SIN3A GLIS2 ZNF263 NCOA1 ZNF184 SMARCA4 GLIS1 NBN SEPT5 SEPT5-GP1BB
GH22I019691 Enhancer 1.1 Ensembl ENCODE 24.5 -22.6 -22577 1.4 HDGF PKNOX1 SMAD1 ATF1 POLR2B GLIS2 ARID2 ATF7 SP3 NCOA1 SEPT5 GP1BB ABHD17AP4 ENSG00000225007
GH22I019687 Enhancer 0.9 Ensembl ENCODE 24.2 -26.4 -26363 1.8 KLF1 RB1 NFIB MAX ZIC2 CTBP1 POLR2A SCRT2 SMARCE1 SCRT1 SEPT5 GP1BB ENSG00000225007
GH22I019642 Enhancer 1.2 Ensembl ENCODE 12.3 -70.4 -70439 2.1 HDGF PKNOX1 SMAD1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 NCOA1 DGCR8 LOC100420177 TRMT2A SEPT5 GP1BB LINC01311 RPL8P5 LOC100129254 LOC100420103
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEPT5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEPT5 gene promoter:

Genomic Locations for SEPT5 Gene

Genomic Locations for SEPT5 Gene
chr22:19,714,464-19,724,772
(GRCh38/hg38)
Size:
10,309 bases
Orientation:
Plus strand
chr22:19,701,987-19,712,295
(GRCh37/hg19)

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 PRKN. 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 PRKN, but not familial-linked PRKN mutants, ubiquitinates mouse SEPT5 and promotes its degradation, it has been suggested 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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for SEPT5 Gene

Graphical View of Domain Structure for InterPro Entry

Q99719

UniProtKB/Swiss-Prot:

SEPT5_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.
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).

Phenotypes From GWAS Catalog for SEPT5 Gene

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:

Animal Model Products

miRNA for SEPT5 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEPT5

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEPT5 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEPT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA 10321247
GO:0005938 cell cortex IEA --
GO:0008021 synaptic vesicle IEA,IDA 10321247
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:0007049 cell cycle IEA --
GO:0016080 synaptic vesicle targeting TAS 10321247
GO:0017157 regulation of exocytosis IMP,IEA 10321247
GO:0051301 cell division IEA --
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEPT5

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

Evidence on tissue expression from TISSUES for SEPT5 Gene

  • Nervous system(5)
  • Heart(4.4)
  • Blood(4.3)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with SEPT5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT5 Gene

Orthologs for SEPT5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPT5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT5 33 34
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia SEPT5 33 34
  • 92.23 (n)
cow
(Bos Taurus)
Mammalia SEPT5 33 34
  • 91.96 (n)
mouse
(Mus musculus)
Mammalia Sept5 33 16 34
  • 89.52 (n)
rat
(Rattus norvegicus)
Mammalia Sept5 33
  • 89.3 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 55 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SEP-05 33 34
  • 82.66 (n)
lizard
(Anolis carolinensis)
Reptilia SEPT5 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept5 33
  • 78.32 (n)
zebrafish
(Danio rerio)
Actinopterygii sept5b 34
  • 83 (a)
OneToMany
sept5a 34
  • 82 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Sep4 34
  • 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

Variants for SEPT5 Gene

Sequence variations from dbSNP and Humsavar for SEPT5 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs730882059 pathogenic, Bernard-Soulier syndrome, type B 19,723,410(+) C/G downstream_transcript_variant
rs1000029080 -- 19,718,335(+) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000060878 -- 19,723,059(+) C/G/T 3_prime_UTR_variant
rs1000070980 -- 19,722,911(+) T/C 3_prime_UTR_variant
rs1000267092 -- 19,723,150(+) C/T 3_prime_UTR_variant

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)

Additional Variant Information for SEPT5 Gene

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

SNP Genotyping and Copy Number Assay Products

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 and Novoseek

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • chromosome 22q11.2 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SEPT5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 58
  2. A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. (PMID: 9385360) McKie JM … Scambler PJ (Human genetics 1997) 2 3 4 58
  3. Cyclin-dependent kinase 5 phosphorylation of human septin SEPT5 (hCDCrel-1) modulates exocytosis. (PMID: 18385322) Amin ND … Pant HC (The Journal of neuroscience : the official journal of the Society for Neuroscience 2008) 3 22 58
  4. Septin expression in proliferative retinal membranes. (PMID: 17625225) Xin X … Meyer P (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2007) 3 22 58
  5. Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. (PMID: 16767699) Bläser S … Zieger B (The Journal of pathology 2006) 3 22 58

Products for SEPT5 Gene

  • Addgene plasmids for SEPT5

Sources for SEPT5 Gene

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