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SEPTIN5 septin 5 [ Homo sapiens (human) ]

Gene ID: 5413, updated on 10-Dec-2024

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
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Genomic context

See SEPTIN5 in Genome Data Viewer
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_000022.11Genomic Context describing neighboring genes Neighboring gene chromosome 3 open reading frame 38 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19640940-19641163 Neighboring gene uncharacterized LOC100420103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19654543-19655394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19655395-19656244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19675661-19676509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19679492-19680051 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19692588-19693325 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19693326-19694062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19696168-19696675 Neighboring gene uncharacterized LOC124905079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19704678-19705319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19705320-19705960 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19705962-19706132 Neighboring gene SEPT5-GP1BB readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19706308-19706808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19706809-19707309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19710387-19711165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19711166-19711943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19713539-19714114 Neighboring gene uncharacterized LOC105372861 Neighboring gene Sharpr-MPRA regulatory region 13949 Neighboring gene glycoprotein Ib platelet subunit beta

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

General gene information

Readthrough SEPT5-GP1BB

Readthrough gene: SEPT5-GP1BB, Included gene: GP1BB

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding  
enables GTPase activity  
enables GTPase activity PubMed 
enables identical protein binding PubMed 
enables molecular adaptor activity  
enables protein binding PubMed 
enables structural molecule activity PubMed 
Process Evidence Code Pubs
involved_in adult behavior  
involved_in cytoskeleton-dependent cytokinesis  
involved_in protein localization  
involved_in regulation of exocytosis  
involved_in regulation of exocytosis PubMed 
involved_in regulation of synaptic vesicle exocytosis PubMed 
involved_in social behavior  
involved_in synaptic vesicle targeting PubMed 
Component Evidence Code Pubs
is_active_in cell division site  
is_active_in microtubule cytoskeleton  
located_in plasma membrane PubMed 
part_of septin complex  
part_of septin complex  
is_active_in septin ring  
is_active_in synaptic vesicle  
located_in synaptic vesicle 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)

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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)

  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/TrEMBL
    E7EX32
    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
    O15251, Q96MY5, Q99719
    UniProtKB/TrEMBL
    Q59GE1, X5DNA9
    Related
    ENSP00000391311.2, ENST00000455784.7
    Conserved Domains (1) summary
    pfam00735
    Location:42313
    Septin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20091294..20100110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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