Homo sapiens Gene: SEPT5
Summary
InnateDB Gene IDBG-1395.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SEPT5
Gene Name septin 5
Synonyms CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1; PNUTL1;
Species Homo sapiens
Ensembl Gene ENSG00000184702
Encoded Proteins
septin 5
septin 5
septin 5
septin 5
septin 5
septin 5
septin 5
septin 5
septin 5
septin 5
septin 5
septin 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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] 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 22:19714464-19724772
Strand Forward strand
Band q11.21
Transcripts
ENST00000383045 ENSP00000372515
ENST00000395109 ENSP00000378541
ENST00000406395 ENSP00000384535
ENST00000406172 ENSP00000385356
ENST00000455784 ENSP00000391311
ENST00000412544 ENSP00000408678
ENST00000455843 ENSP00000391731
ENST00000431124 ENSP00000414488
ENST00000431044 ENSP00000399685
ENST00000438754 ENSP00000394541
ENST00000413258 ENSP00000404673
ENST00000490204
ENST00000477238
ENST00000480423
ENST00000470814
ENST00000622227 ENSP00000480620
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 26 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003924 GTPase activity
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0005525 GTP binding
Biological Process
GO:0000910 cytokinesis
GO:0006184 GTP catabolic process
GO:0007049 cell cycle
GO:0016080 synaptic vesicle targeting
GO:0017157 regulation of exocytosis
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
Mus musculus
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
ECM-receptor interaction pathway
Hematopoietic cell lineage pathway
Parkinson's disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.283743 Hs.728762
RefSeq NM_001009939 NM_002688
HUGO
OMIM
CCDS CCDS13764 CCDS56224
HPRD 04100
IMGT
EMBL
GenPept
RNA Seq Atlas