SEPTIN5 Gene (Protein Coding)

Septin 5

GC22P019714
GIFtS:
32
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... See more...

Aliases for SEPTIN5 Gene

Aliases for SEPTIN5 Gene

  • Septin 5 2 3 5
  • HCDCREL-1 2 3
  • Septin-5 3 4
  • PNUTL1 3 4
  • SEPT5 3 4
  • H5 2 3
  • 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
  • CDCREL-1 3
  • CDCrel-1 4
  • CDCREL1 3
  • SEPTIN5 5
  • CDCREL 3

External Ids for SEPTIN5 Gene

Previous HGNC Symbols for SEPTIN5 Gene

  • PNUTL1
  • SEPT5

Summaries for SEPTIN5 Gene

Entrez Gene Summary for SEPTIN5 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 SEPTIN5 Gene

SEPTIN5 (Septin 5) is a Protein Coding gene. Diseases associated with SEPTIN5 include Digeorge Syndrome and Amyotrophic Neuralgia. Among its related pathways are Chks in Checkpoint Regulation and Pathways of neurodegeneration - multiple diseases. An important paralog of this gene is SEPT5-GP1BB.

UniProtKB/Swiss-Prot Summary for SEPTIN5 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 SEPTIN5 Gene

Additional gene information for SEPTIN5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN5 Gene

Genomics for SEPTIN5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SEPTIN5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN5

Genomic Locations for SEPTIN5 Gene

Latest Assembly
chr22:19,714,503-19,724,224
(GRCh38/hg38)
Size:
9,722 bases
Orientation:
Plus strand

Previous Assembly
chr22:19,702,026-19,710,842
(GRCh37/hg19 by Entrez Gene)
Size:
8,817 bases
Orientation:
Plus strand

chr22:19,701,987-19,712,295
(GRCh37/hg19 by Ensembl)
Size:
10,309 bases
Orientation:
Plus strand

Genomic View for SEPTIN5 Gene

Genes around SEPTIN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SEPTIN5 Gene

Proteins for SEPTIN5 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for SEPTIN5 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for SEPTIN5 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 SEPTIN2 and SEPTIN5. In platelets, associated with a complex containing STX4. Interacts with PRKN. This interaction leads to SEPTIN5 ubiquitination and degradation (By similarity).
    Miscellaneous:
    • In a heterologous system, SEPTIN5 overexpression has been shown to exert dopamine-dependent neurotoxicity. As wild-type PRKN, but not familial-linked PRKN mutants, ubiquitinates mouse SEPTIN5 and promotes its degradation, it has been suggested that a deficiency in SEPTIN5 degradation may contribute to the development of early onset Parkinson disease 2 (PARK2).

    Alternative splice isoforms for SEPTIN5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPTIN5 Gene

Post-translational modifications for SEPTIN5 Gene

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

Other Protein References for SEPTIN5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SEPTIN5 Gene

Domains & Families for SEPTIN5 Gene

Gene Families for SEPTIN5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SEPTIN5 Gene

InterPro:
Blocks:
  • Cell division/GTP binding protein
ProtoNet:

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 SEPTIN5: view

No data available for Suggested Antigen Peptide Sequences for SEPTIN5 Gene

Function for SEPTIN5 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for SEPTIN5 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 SEPTIN5 Gene

Gene Ontology (GO) - Molecular Function for SEPTIN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
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 SEPTIN5: view
genes like me logo Genes that share phenotypes with SEPTIN5: view

Animal Models for SEPTIN5 Gene

MGI Knock Outs for SEPTIN5:

miRNA for SEPTIN5 Gene

miRTarBase miRNAs that target SEPTIN5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPTIN5 Gene

Localization for SEPTIN5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN5 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 SEPTIN5 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 3
cytosol 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

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 SEPTIN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA 10321247
GO:0005940 septin ring IBA 21873635
GO:0008021 synaptic vesicle IBA,IDA 10321247
genes like me logo Genes that share ontologies with SEPTIN5: view

Pathways & Interactions for SEPTIN5 Gene

PathCards logo

SuperPathways for SEPTIN5 Gene

SuperPathway Contained pathways
1 Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
.97
Parkin-Ubiquitin Proteasomal System pathway
.97
2 Prion disease
Parkinson disease
.55
3 Pathways of neurodegeneration - multiple diseases
Pathways of neurodegeneration - multiple diseases
.65
4 Chks in Checkpoint Regulation
Parkinson's Disease Pathway
.31
5 ERK Signaling
Rho Family GTPases
.61
genes like me logo Genes that share pathways with SEPTIN5: view

Pathways by source for SEPTIN5 Gene

2 GeneGo (Thomson Reuters) pathways for SEPTIN5 Gene
  • Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
  • Proteolysis_Putative ubiquitin pathway
3 Qiagen pathways for SEPTIN5 Gene
  • Parkinson's Disease Pathway
  • Rho Family GTPases
  • RhoA Pathway

Gene Ontology (GO) - Biological Process for SEPTIN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0016080 synaptic vesicle targeting TAS 10321247
GO:0017157 regulation of exocytosis IMP 10321247
GO:0030534 adult behavior ISS --
GO:0034613 cellular protein localization IBA 21873635
genes like me logo Genes that share ontologies with SEPTIN5: view

No data available for SIGNOR curated interactions for SEPTIN5 Gene

Drugs & Compounds for SEPTIN5 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for SEPTIN5 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for SEPTIN5 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN5

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN5 Gene

No ASD Table

Relevant External Links for SEPTIN5 Gene

GeneLoc Exon Structure for
SEPTIN5

Expression for SEPTIN5 Gene

Products:

  1. Primer products for research

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN5

SOURCE GeneReport for Unigene cluster for SEPTIN5 Gene:

Hs.728762

mRNA Expression by UniProt/SwissProt for SEPTIN5 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 SEPTIN5 Gene

  • Nervous system(5)
  • Heart(4.5)
  • Blood(4.4)
  • Lung(4.3)
  • Skin(2.6)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with SEPTIN5: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPTIN5 Gene

Orthologs for SEPTIN5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPTIN5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SEPT5 30 31
  • 99.73 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SEPT5 30 31
  • 92.23 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SEPT5 30 31
  • 91.96 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Sept5 30 31
  • 89.52 (n)
 OneToOne
Septin5 17
Rat
(Rattus norvegicus)
 Mammalia Sept5 30
  • 89.3 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 55 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves SEP-05 30 31
  • 82.66 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SEPT5 31
  • 75 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia sept5 30
  • 78.32 (n)
Zebrafish
(Danio rerio)
 Actinopterygii sept5b 31
  • 83 (a)
 OneToMany
sept5a 31
  • 82 (a)
 OneToMany
-- 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Sep4 31
  • 50 (a)
 OneToMany
Species where no ortholog for SEPTIN5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 SEPTIN5 Gene

ENSEMBL:
Gene Tree for SEPTIN5 (if available)
TreeFam:
Gene Tree for SEPTIN5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN5: view image

Paralogs for SEPTIN5 Gene

Paralogs for SEPTIN5 Gene

genes like me logo Genes that share paralogs with SEPTIN5: view

Variants for SEPTIN5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPTIN5 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
627512 Conflicting Interpretations: Abnormal bleeding; Macrothrombocytopenia 19,721,911(+) GTGCACTACGAGAACT
Single allele
rs1601245596 Likely Benign: not provided 19,722,273(+) C/A
NM_002688.6(SEPTIN5):c.987C>A (p.Ile329=) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs370608296 Benign: not provided 19,714,624(+) G/A
NM_002688.6(SEPTIN5):c.36G>A (p.Ala12=) 		SYNONYMOUS
rs377068754 Likely Benign: not provided 19,720,845(+) C/T
NM_002688.6(SEPTIN5):c.693C>T (p.Phe231=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs745550752 Likely Benign: not provided 19,721,697(+) C/A
NM_002688.6(SEPTIN5):c.775C>A (p.Arg259=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEPTIN5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SEPTIN5 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 SEPTIN5 Gene

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

Additional Variant Information for SEPTIN5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPTIN5 Gene

Disorders for SEPTIN5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SEPTIN5 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
digeorge syndrome
  • dgs
amyotrophic neuralgia
  • neuralgic amyotrophy
brachial plexus neuropathy
  • brachial plexopathy
juvenile-onset parkinson's disease
  • juvenile-onset parkinson disease
bernard-soulier syndrome
  • bss
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEPTIN5

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SEPTIN5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPTIN5 Gene

Publications for SEPTIN5 Gene

  1. Structure and expression of the human septin gene HCDCREL-1. (PMID: 9611266) Yagi M … Ware J (Gene 1998) 2 3 4
  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
  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 23
  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 23
  5. Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. (PMID: 16767699) Bläser S … Zieger B (The Journal of pathology 2006) 3 23

ExternalLinks

View latest publications for SEPTIN5 gene in Mastermind

Products for SEPTIN5 Gene

Sources for SEPTIN5 Gene