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    SEPTIN1 septin 1 [ Homo sapiens (human) ]

    Gene ID: 1731, updated on 2-Nov-2024

    Summary

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    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
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    Genomic context

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    See SEPTIN1 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30378135..30382815, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30764338..30769019, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    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

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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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_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_2024_08

    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.

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