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SEPTIN5 septin 5 [ Homo sapiens (human) ]

Gene ID: 5413, updated on 2-Nov-2024

Summary

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Official Symbol
SEPTIN5provided by HGNC
Official Full Name
septin 5provided by HGNC
Primary source
HGNC:HGNC:9164
See related
Ensembl:ENSG00000184702 MIM:602724; AllianceGenome:HGNC:9164
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
H5; SEPT5; CDCREL; PNUTL1; CDCREL1; CDCREL-1; Septin-5; HCDCREL-1
Summary
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]
Expression
Biased expression in brain (RPKM 96.0), heart (RPKM 40.0) and 10 other tissues See more
Orthologs
mouse all
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Genomic context

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See SEPTIN5 in Genome Data Viewer
Location:
22q11.21
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19714503..19723319)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20091294..20100110)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19702026..19710842)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene chromosome 3 open reading frame 38 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19640940-19641163 Neighboring gene uncharacterized LOC100420103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19654543-19655394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19655395-19656244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19675661-19676509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19679492-19680051 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19692588-19693325 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19693326-19694062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19696168-19696675 Neighboring gene uncharacterized LOC124905079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19704678-19705319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19705320-19705960 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19705962-19706132 Neighboring gene SEPT5-GP1BB readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19706308-19706808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19706809-19707309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19710387-19711165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19711166-19711943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19713539-19714114 Neighboring gene uncharacterized LOC105372861 Neighboring gene Sharpr-MPRA regulatory region 13949 Neighboring gene glycoprotein Ib platelet subunit beta

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Peanut-like 1 (septin 5) gene expression in normal and neoplastic human endocrine pancreas. Capurso G, et al. Neuroendocrinology, 2005. PMID 16179808
  2. Localization of a novel septin protein, hCDCrel-1, in neurons of human brain. Caltagarone J, et al. Neuroreport, 1998 Aug 24. PMID 9760144
  3. Expression profiles of proteins in fetal brain with Down syndrome. Cheon MS, et al. J Neural Transm Suppl, 2001. PMID 11771754
  4. Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of APP C-Terminal Fragments and the Levels of Aβ. Marttinen M, et al. Cells, 2020 Nov 15. PMID 33203136, Free PMC Article
  5. Human septin-septin interaction: CDCrel-1 partners with KIAA0202. Bläser S, et al. FEBS Lett, 2002 May 22. PMID 12023038

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of APP C-Terminal Fragments and the Levels of Abeta.
    Title: Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of APP C-Terminal Fragments and the Levels of Aβ.
  2. The expression levels of miR-185, SEPT5, LRRK2, and PARK2 genes were measured at a mRNA level in dopaminergic areas of rats' brains and SHSY-5Y cells using the SYBR Green Real-Time PCR Method.
    Title: miR-185 and SEPT5 Genes May Contribute to Parkinson's Disease Pathophysiology.
  3. HSP70 and constitutively active HSF1 mediate protection against CDCrel-1-mediated toxicity
    Title: HSP70 and constitutively active HSF1 mediate protection against CDCrel-1-mediated toxicity.
  4. Our finding suggests a role for members of the septin family in the development of proliferative retinal membranes.
    Title: Septin expression in proliferative retinal membranes.
  5. CDCrel-1 overexpression exerts dopamine-dependent neurotoxicity and may contribute to the development of autosomal-recessive juvenile parkinsonism
    Title: Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein, CDCrel-1.
  6. We studied the assembly of three human septins, SEPT4, SEPT5 and SEPT8, with each other (heterotypic) and with themselves (homotypic) using a yeast two-hybrid system.
    Title: Human septin-septin interactions as a prerequisite for targeting septin complexes in the cytosol.
  7. the high expression levels of PNUTL1 in human pancreatic endocrine cells that suggests a similar role of this protein in islet cells to that demonstrated in neuronal tissues, and warrants further functional studies of this protein.
    Title: Peanut-like 1 (septin 5) gene expression in normal and neoplastic human endocrine pancreas.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough SEPT5-GP1BB

Readthrough gene: SEPT5-GP1BB, Included gene: GP1BB

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity TAS
Traceable Author Statement
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural molecule activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in adult behavior ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of exocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of synaptic vesicle exocytosis TAS
Traceable Author Statement
more info
 PubMed 
involved_in social behavior ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in synaptic vesicle targeting TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cell division site IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of septin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of septin complex ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in septin ring IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in synaptic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
septin-5
Names
cell division control related protein 1
peanut-like 1
platelet glycoprotein Ib beta chain
NP_001009939.1
NP_002679.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001009939.3 → NP_001009939.1  septin-5 isoform 2

    See identical proteins and their annotated locations for NP_001009939.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform 2 has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC000093, AK056273, BI601927
    Consensus CDS
    CCDS56224.1
    UniProtKB/TrEMBL
    E7EX32
    Related
    ENSP00000394541.2, ENST00000438754.6
    Conserved Domains (1) summary
    pfam00735
    Location:51 → 280
    Septin; Septin

  2. NM_002688.6 → NP_002679.2  septin-5 isoform 1

    See identical proteins and their annotated locations for NP_002679.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC025261
    Consensus CDS
    CCDS13764.1
    UniProtKB/Swiss-Prot
    O15251, Q96MY5, Q99719
    UniProtKB/TrEMBL
    Q59GE1, X5DNA9
    Related
    ENSP00000391311.2, ENST00000455784.7
    Conserved Domains (1) summary
    pfam00735
    Location:42 → 313
    Septin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    19714503..19723319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20091294..20100110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99719.1 GenPept UniProtKB/Swiss-Prot:Q99719

Gene LinkOut

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