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    SEPT5 septin 5 [ Homo sapiens (human) ]

    Gene ID: 5413, updated on 22-Apr-2017
    Official Symbol
    SEPT5provided by HGNC
    Official Full Name
    septin 5provided by HGNC
    Primary source
    HGNC:HGNC:9164
    See related
    Ensembl:ENSG00000184702 MIM:602724; Vega:OTTHUMG00000150399
    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; CDCREL; PNUTL1; CDCREL1; CDCREL-1; 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]
    Orthologs
    Location:
    22q11.21
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (19714464..19723322)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19701987..19710845)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene chromosome 3 open reading frame 38 pseudogene Neighboring gene uncharacterized LOC100420103 Neighboring gene SEPT5-GP1BB readthrough Neighboring gene uncharacterized LOC105372861 Neighboring gene glycoprotein Ib platelet beta subunit

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    NHGRI GWA Catalog
    • Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystem (from WikiPathways)
      Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystemThis pathway describes the Parkin-Ubiquitin proteasome degradation system.
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
      Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Readthrough SEPT5-GP1BB

    Readthrough gene: SEPT5-GP1BB, Included gene: GP1BB

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural molecule activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cytokinesis TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of synaptic vesicle exocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    synaptic vesicle targeting TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    terminal bouton IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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_001009939.2NP_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, BQ448147
      Consensus CDS
      CCDS56224.1
      UniProtKB/Swiss-Prot
      Q99719
      Related
      ENSP00000394541.2, OTTHUMP00000197272, ENST00000438754.6, OTTHUMT00000317938
      Conserved Domains (1) summary
      pfam00735
      Location:50280
      Septin; Septin
    2. NM_002688.5NP_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)
      AC000093, BC025261, BQ448147
      Consensus CDS
      CCDS13764.1
      UniProtKB/Swiss-Prot
      Q99719
      UniProtKB/TrEMBL
      X5DNA9
      Related
      ENSP00000391311.2, OTTHUMP00000197271, ENST00000455784.6, OTTHUMT00000317937
      Conserved Domains (2) summary
      COG5019
      Location:23369
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00735
      Location:41313
      Septin; Septin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      19714464..19723322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      19701568..19710409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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