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SEPTIN3 septin 3 [ Homo sapiens (human) ]

Gene ID: 55964, updated on 27-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
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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
  • 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)

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 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

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Chemical Information
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