Mus musculus Gene: Sept5
Summary
InnateDB Gene IDBG-142046.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Sept5
Gene Name septin 5
Synonyms Cdcrel-1; Cdcrel1; Pnutl1;
Species Mus musculus
Ensembl Gene ENSMUSG00000072214
Encoded Proteins
septin 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000184702:
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] Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:18621811-18629938
Strand Reverse strand
Band A3
Transcripts
ENSMUST00000096987 ENSMUSP00000094750
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 17 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005525 GTP binding
Biological Process
GO:0007049 cell cycle
GO:0017157 regulation of exocytosis
GO:0051301 cell division
Cellular Component
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0008021 synaptic vesicle
GO:0031105 septin complex
GO:0043195 terminal bouton
GO:0043679 axon terminus
GO:0045202 synapse
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Parkinson's disease pathway
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
ECM-receptor interaction pathway
Hematopoietic cell lineage pathway
Parkinson's disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9Z2Q6
TrEMBL B7ZNM7 Q68FM0
UniProt Splice Variant
Entrez Gene 18951
UniGene Mm.20365
RefSeq NM_213614
OMIM
CCDS CCDS57021
HPRD
IMGT
MGI ID MGI:1195461
MGI Symbol Sept5
EMBL AF033350 AK134700 BC059848 BC079631 BC141073 BC145331 BC145332
GenPept AAC83974 AAH59848 AAH79631 AAI41074 AAI45332 AAI45333 BAE22248
RNA Seq Atlas 18951