Format

Send to:

Choose Destination

SEPT3 septin 3 [ Homo sapiens (human) ]

Gene ID: 55964, updated on 2-Oct-2018

Summary

Official Symbol
SEPT3provided by HGNC
Official Full Name
septin 3provided by HGNC
Primary source
HGNC:HGNC:10750
See related
Ensembl:ENSG00000100167 MIM:608314; Vega:OTTHUMG00000030494
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
SEP3; bK250D10.3
Summary
This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2018]
Expression
Biased expression in brain (RPKM 64.7) and placenta (RPKM 2.6) See more
Orthologs

Genomic context

See SEPT3 in Genome Data Viewer
Location:
22q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (41969455..41998221)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42372855..42394225)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CAGE-defined B cell enhancer downstream of CENPM Neighboring gene centromere protein M Neighboring gene long intergenic non-protein coding RNA 634 Neighboring gene solute carrier family 25 member 5 pseudogene 1 Neighboring gene WBP2 N-terminal like Neighboring gene CYP2D6 downstream enhancer

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.
NHGRI GWA Catalog

Pathways from BioSystems

  • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
    Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
    Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC133218

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 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex scaffold activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin ring assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynaptic cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin filament array IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_001363845.1NP_001350774.1  neuronal-specific septin-3 isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) represents the longest transcript and encodes the longest isoform (C).
    Source sequence(s)
    Z99716
    Consensus CDS
    CCDS87030.1
    Conserved Domains (1) summary
    cd01850
    Location:557831
    CDC_Septin; CDC/Septin GTPase family
  2. NM_019106.5NP_061979.3  neuronal-specific septin-3 isoform B

    See identical proteins and their annotated locations for NP_061979.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) differs in the 5' UTR and coding sequence and in the 3' UTR and coding sequence compared to variant C. The resulting isoform (B) has shorter and distinct N- and C-termini compared to isoform C.
    Source sequence(s)
    AF285109, AI341333, BX465056
    Consensus CDS
    CCDS14027.2
    UniProtKB/Swiss-Prot
    Q9UH03
    Related
    ENSP00000379703.3, OTTHUMP00000028742, ENST00000396425.7, OTTHUMT00000075382
    Conserved Domains (1) summary
    cd01850
    Location:59333
    CDC_Septin; CDC/Septin GTPase family
  3. NM_145733.2NP_663786.2  neuronal-specific septin-3 isoform A

    See identical proteins and their annotated locations for NP_663786.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant(A) differs in the 5' UTR and coding sequence compared to variant C. The resulting isoform (A) has a shorter and distinct N-terminus compared to isoform C.
    Source sequence(s)
    AF285107, AI341333, BX465056
    Consensus CDS
    CCDS14026.2
    UniProtKB/Swiss-Prot
    Q9UH03
    Related
    ENSP00000379704.3, OTTHUMP00000199651, ENST00000396426.7, OTTHUMT00000322051
    Conserved Domains (1) summary
    cd01850
    Location:59333
    CDC_Septin; CDC/Septin GTPase family

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.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    41969455..41998221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028862.1XP_016884351.1  neuronal-specific septin-3 isoform X1

    Related
    ENSP00000494051.1, ENST00000644076.1
    Conserved Domains (1) summary
    cd01850
    Location:557831
    CDC_Septin; CDC/Septin GTPase family

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145734.1: Suppressed sequence

    Description
    NM_145734.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Support Center