SEPTIN5 septin 5 [Homo sapiens (human)] - Gene

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15728 (e-PCR)
- UniSTS:89930

AB056419 (e-PCR)
- UniSTS:480135

Readthrough SEPT5-GP1BB

Readthrough gene: SEPT5-GP1BB, Included gene: GP1BB

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

EC 3.1.5.1

NP_002679.2

EC 3.1.5.1

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)

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
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