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    SEPTIN3 septin 3 [ Homo sapiens (human) ]

    Gene ID: 55964, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SEPTIN3provided by HGNC
    Official Full Name
    septin 3provided by HGNC
    Primary source
    HGNC:HGNC:10750
    See related
    Ensembl:ENSG00000100167 MIM:608314; AllianceGenome:HGNC:10750
    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; SEPT3; 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
    mouse all
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    Genomic context

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    See SEPTIN3 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41969443..41998221)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42449051..42477828)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42365447..42394225)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42321037-42321538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42321539-42322038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13813 Neighboring gene TNF receptor superfamily member 13C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42324809-42325419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42325420-42326029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42328573-42329080 Neighboring gene microRNA 378i Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19144 Neighboring gene CAGE-defined B cell enhancer downstream of CENPM Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42335612-42336579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19150 Neighboring gene centromere protein M Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42346983-42347610 Neighboring gene NANOG hESC enhancer GRCh37_chr22:42351209-42351720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13815 Neighboring gene small integral membrane protein 45 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42394342-42394858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42394859-42395373 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42396708-42397907 Neighboring gene solute carrier family 25 member 5 pseudogene 1 Neighboring gene WBP2 N-terminal like Neighboring gene CYP2D6 downstream enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19152 Neighboring gene uncharacterized LOC107985551 Neighboring gene alpha-N-acetylgalactosaminidase

    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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    Related articles in PubMed

    1. Human septin 3 on chromosome 22q13.2 is upregulated by neuronal differentiation. Methner A, et al. Biochem Biophys Res Commun, 2001 Apr 27. PMID 11322766
    2. Septin 3 gene polymorphism in Alzheimer's disease. Takehashi M, et al. Gene Expr, 2004. PMID 15200238, Free PMC Article
    3. The structure and properties of septin 3: a possible missing link in septin filament formation. Macedo JN, et al. Biochem J, 2013 Feb 15. PMID 23163726
    4. Septin 3 (G-septin) is a developmentally regulated phosphoprotein enriched in presynaptic nerve terminals. Xue J, et al. J Neurochem, 2004 Nov. PMID 15485489
    5. In silico docking of forchlorfenuron (FCF) to septins suggests that FCF interferes with GTP binding. Angelis D, et al. PLoS One, 2014. PMID 24787956, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular Recognition at Septin Interfaces: The Switches Hold the Key.
      Title: Molecular Recognition at Septin Interfaces: The Switches Hold the Key.
    2. argeted RNA sequencing was used to screen 60 melanoma patient-derived xenograft (PDX) models for BRAF fusions. We identified three unique BRAF fusions, including a novel SEPT3-BRAF fusion, occurring in four tumors (4/60, 6.7%), all of which were "pan-negative" (lacking other common mutations) (4/18, 22.2%).
      Title: BRAF fusions identified in melanomas have variable treatment responses and phenotypes.
    3. SUMOylation of human septins is critical for septin filament bundling and cytokinesis.
      Title: SUMOylation of human septins is critical for septin filament bundling and cytokinesis.
    4. Data indicate that forchlorfenuron (FCF) exhibits differential binding preference for septins SEPT2 and SEPT3.
      Title: In silico docking of forchlorfenuron (FCF) to septins suggests that FCF interferes with GTP binding.
    5. septins from the SEPT3 subgroup may be important determinants of polymerization by occupying the terminal position in octameric units which themselves form the building blocks of at least some heterofilaments
      Title: The structure and properties of septin 3: a possible missing link in septin filament formation.
    6. Data show that Septins of the SEPT6 group preferentially interacted with septins of the SEPT2 group, SEPT3 group and SEPT7 group.
      Title: A draft of the human septin interactome.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Septin 3 gene polymorphism in Alzheimer's disease.
    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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC133218

    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 molecular_function ND
    No biological Data available
    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 protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell division site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in presynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in presynaptic cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of septin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of septin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in septin ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    neuronal-specific septin-3

    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_001363845.2 → NP_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
      UniProtKB/TrEMBL
      A0A2R8Y4H2
      Related
      ENSP00000494051.1, ENST00000644076.2
      Conserved Domains (1) summary
      cd01850
      Location:557 → 831
      CDC_Septin; CDC/Septin GTPase family

    2. NM_001389668.1 → NP_001376597.1  neuronal-specific septin-3 isoform D

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Conserved Domains (2) summary
      cd01850
      Location:557 → 831
      CDC_Septin; CDC/Septin GTPase family
      PHA03247
      Location:6 → 248
      PHA03247; large tegument protein UL36; Provisional

    3. NM_001389669.1 → NP_001376598.1  neuronal-specific septin-3 isoform E

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Conserved Domains (1) summary
      cd01850
      Location:557 → 788
      CDC_Septin; CDC/Septin GTPase family

    4. NM_001389670.1 → NP_001376599.1  neuronal-specific septin-3 isoform F

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Conserved Domains (1) summary
      cd01850
      Location:502 → 767
      CDC_Septin; CDC/Septin GTPase family

    5. NM_001389671.1 → NP_001376600.1  neuronal-specific septin-3 isoform G

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Conserved Domains (2) summary
      cd01850
      Location:502 → 767
      CDC_Septin; CDC/Septin GTPase family
      PHA03247
      Location:6 → 248
      PHA03247; large tegument protein UL36; Provisional

    6. NM_001389672.1 → NP_001376601.1  neuronal-specific septin-3 isoform H

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Conserved Domains (1) summary
      cd01850
      Location:447 → 724
      CDC_Septin; CDC/Septin GTPase family

    7. NM_001389673.1 → NP_001376602.1  neuronal-specific septin-3 isoform I

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Conserved Domains (1) summary
      cd01850
      Location:447 → 724
      CDC_Septin; CDC/Septin GTPase family

    8. NM_001389674.1 → NP_001376603.1  neuronal-specific septin-3 isoform J

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Conserved Domains (1) summary
      cd01850
      Location:46 → 320
      CDC_Septin; CDC/Septin GTPase family

    9. NM_001389675.1 → NP_001376604.1  neuronal-specific septin-3 isoform K

      Status: REVIEWED

      Source sequence(s)
      Z99716
      UniProtKB/TrEMBL
      A8K1X2
      Conserved Domains (1) summary
      cd01850
      Location:46 → 320
      CDC_Septin; CDC/Septin GTPase family

    10. NM_001389676.1 → NP_001376605.1  neuronal-specific septin-3 isoform L

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Conserved Domains (1) summary
      cd01850
      Location:67 → 290
      CDC_Septin; CDC/Septin GTPase family

    11. NM_001389677.1 → NP_001376606.1  neuronal-specific septin-3 isoform M

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Conserved Domains (1) summary
      cd01850
      Location:67 → 290
      CDC_Septin; CDC/Septin GTPase family

    12. NM_001389678.1 → NP_001376607.1  neuronal-specific septin-3 isoform N

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Conserved Domains (1) summary
      cd01850
      Location:54 → 277
      CDC_Septin; CDC/Septin GTPase family

    13. NM_001389679.1 → NP_001376608.1  neuronal-specific septin-3 isoform O

      Status: REVIEWED

      Source sequence(s)
      Z99716
      UniProtKB/TrEMBL
      B7Z686
      Conserved Domains (1) summary
      cd01850
      Location:4 → 269
      CDC_Septin; CDC/Septin GTPase family

    14. NM_019106.6 → NP_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, Z99716
      Consensus CDS
      CCDS14027.2
      UniProtKB/Swiss-Prot
      Q9UH03
      Related
      ENSP00000379703.3, ENST00000396425.8
      Conserved Domains (1) summary
      cd01850
      Location:59 → 333
      CDC_Septin; CDC/Septin GTPase family

    15. NM_145733.3 → NP_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, Z99716
      Consensus CDS
      CCDS14026.2
      UniProtKB/Swiss-Prot
      B1AHR0, Q2NKJ7, Q59GF7, Q6IBZ6, Q8N3P3, Q9HD35, Q9UH03
      Related
      ENSP00000379704.3, ENST00000396426.7
      Conserved Domains (1) summary
      cd01850
      Location:59 → 333
      CDC_Septin; CDC/Septin GTPase family

    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
      41969443..41998221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42449051..42477828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UH03.3 GenPept UniProtKB/Swiss-Prot:Q9UH03

    Gene LinkOut

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

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