U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SEPTIN1 septin 1 [ Homo sapiens (human) ]

Gene ID: 1731, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
SEPTIN1provided by HGNC
Official Full Name
septin 1provided by HGNC
Primary source
HGNC:HGNC:2879
See related
Ensembl:ENSG00000180096 MIM:612897; AllianceGenome:HGNC:2879
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
LARP; SEP1; DIFF6; SEPT1; PNUTL3; Septin-1
Summary
This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]
Expression
Biased expression in lymph node (RPKM 27.2), spleen (RPKM 18.3) and 9 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
16p11.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30378135..30382815, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30764338..30769019, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30389456..30394136, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CD2BP2 divergent transcript Neighboring gene TBC1 domain family member 10B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7363 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7364 Neighboring gene myosin light chain 11 Neighboring gene Sharpr-MPRA regulatory region 9884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30390133-30390690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30390691-30391248 Neighboring gene zinc finger protein 48 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30404661-30405161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30407163-30407759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30410094-30410637 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30418651-30418830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7370 Neighboring gene zinc finger protein 771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7373 Neighboring gene small nucleolar RNA, H/ACA box 80C

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Possible role of a septin, SEPT1, in spreading in squamous cell carcinoma DJM-1 cells. Mizutani Y, et al. Biol Chem, 2013 Feb. PMID 23087102
  2. Septin genomics: a road less travelled. Russell SE, et al. Biol Chem, 2011 Aug. PMID 21809895
  3. Conquering the complex world of human septins: implications for health and disease. Peterson EA, et al. Clin Genet, 2010 Jun. PMID 20236126, Free PMC Article
  4. Structural and expression changes of septins in myeloid neoplasia. Cerveira N, et al. Crit Rev Oncog, 2009. PMID 20136629
  5. Overexpression of Septin1: possible contribution to the development of oral cancer. Kato Y, et al. Int J Oncol, 2007 Nov. PMID 17912427

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SEPT1 function depends on the Golgi matrix protein GOLGA2 and on centrosomal proteins, including CEP170 and components of gamma-tubulin ring complex, to facilitate the perinuclear concentration of Golgi membranes.
    Title: A SEPT1-based scaffold is required for Golgi integrity and function.
  2. The SEPT1 may participate in cell-cell and/or cell-substrate interaction in DJM-1 and exert its function in a coordinated manner with other septins.
    Title: Possible role of a septin, SEPT1, in spreading in squamous cell carcinoma DJM-1 cells.
  3. An increase in Sept1 expression in all oral squamous-cell carcinoma-derived cell lines compared to human normal oral keratinocytes and oral premalignant lesions suggest that Sept1 expression could contribute to cancer progression, proliferation, or both.
    Title: Overexpression of Septin1: possible contribution to the development of oral cancer.
  4. Aurora-B binds and phosphorylates Septin1.
    Title: Septin1, a new interaction partner for human serine/threonine kinase aurora-B.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC20394

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in meiotic metaphase chromosome alignment IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spindle assembly involved in female meiosis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cell division site IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in meiotic spindle IEA
Inferred from Electronic Annotation
more info
  
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in midbody IDA
Inferred from Direct Assay
more info
 PubMed 
part_of septin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in septin ring IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
septin-1
Names
differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)
peanut-like protein 3
serologically defined breast cancer antigen NY-BR-24
NP_001352906.1
NP_443070.6

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001365977.2 → NP_001352906.1  septin-1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents transcription from an alternate promoter, relative to variant 2, and has a shorter 5' UTR than variant 2.
    Source sequence(s)
    BC012161, BM663465, BQ072902
    Consensus CDS
    CCDS10678.4
    UniProtKB/Swiss-Prot
    B4DVE6, Q658T1, Q8NEZ1, Q8WYJ6, Q96EL4, Q9H285
    Related
    ENSP00000324511.5, ENST00000321367.8
    Conserved Domains (1) summary
    pfam00735
    Location:28 → 301
    Septin

  2. NM_052838.6 → NP_443070.6  septin-1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript.
    Source sequence(s)
    BC012161, BM663465, BQ072902
    Consensus CDS
    CCDS10678.4
    UniProtKB/Swiss-Prot
    B4DVE6, Q658T1, Q8NEZ1, Q8WYJ6, Q96EL4, Q9H285
    Related
    ENSP00000498586.2, ENST00000652617.2
    Conserved Domains (1) summary
    pfam00735
    Location:28 → 301
    Septin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    30378135..30382815 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    30764338..30769019 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WYJ6.3 GenPept UniProtKB/Swiss-Prot:Q8WYJ6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous