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SEPTIN5 septin 5 [ Homo sapiens (human) ]

Gene ID: 5413, updated on 11-Sep-2019

Summary

Official Symbol
SEPTIN5provided by HGNC
Official Full Name
septin 5provided by HGNC
Primary source
HGNC:HGNC:9164
See related
Ensembl:ENSG00000184702 MIM:602724
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; 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

Genomic context

See SEPTIN5 in Genome Data Viewer
Location:
22q11.21
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19714503..19723319)
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 subunit beta

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
adult behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
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 
social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic vesicle targeting TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin complex ISS
Inferred from Sequence or Structural Similarity
more info
 
septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001009939.3NP_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/Swiss-Prot
    Q99719
    Related
    ENSP00000394541.2, ENST00000438754.6
    Conserved Domains (1) summary
    pfam00735
    Location:51280
    Septin; Septin
  2. NM_002688.6NP_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
    Q99719
    UniProtKB/TrEMBL
    X5DNA9
    Related
    ENSP00000391311.2, ENST00000455784.7
    Conserved Domains (1) summary
    pfam00735
    Location:42313
    Septin; Septin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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