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SEPTIN3 septin 3 [ Homo sapiens (human) ]

Gene ID: 55964, updated on 23-Nov-2021

Summary

Official Symbol
SEPTIN3provided by HGNC
Official Full Name
septin 3provided by HGNC
Primary source
HGNC:HGNC:10750
See related
Ensembl:ENSG00000100167 MIM:608314
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

See SEPTIN3 in Genome Data Viewer
Location:
22q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (41969443..41998221)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42365447..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 small integral membrane protein 45 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations.
GeneReviews: Not available

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
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 cellular protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cell division site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
part_of septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

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_001363845.2NP_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
    Related
    ENSP00000494051.1, ENST00000644076.1
    Conserved Domains (1) summary
    cd01850
    Location:557831
    CDC_Septin; CDC/Septin GTPase family
  2. NM_001389668.1NP_001376597.1  neuronal-specific septin-3 isoform D

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (2) summary
    cd01850
    Location:557831
    CDC_Septin; CDC/Septin GTPase family
    PHA03247
    Location:6248
    PHA03247; large tegument protein UL36; Provisional
  3. NM_001389669.1NP_001376598.1  neuronal-specific septin-3 isofom E

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (1) summary
    cd01850
    Location:557788
    CDC_Septin; CDC/Septin GTPase family
  4. NM_001389670.1NP_001376599.1  neuronal-specific septin-3 isoform F

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (1) summary
    cd01850
    Location:502767
    CDC_Septin; CDC/Septin GTPase family
  5. NM_001389671.1NP_001376600.1  neuronal-specific septin-3 isoform G

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (2) summary
    cd01850
    Location:502767
    CDC_Septin; CDC/Septin GTPase family
    PHA03247
    Location:6248
    PHA03247; large tegument protein UL36; Provisional
  6. NM_001389672.1NP_001376601.1  neuronal-specific septin-3 isoform H

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (1) summary
    cd01850
    Location:447724
    CDC_Septin; CDC/Septin GTPase family
  7. NM_001389673.1NP_001376602.1  neuronal-specific septin-3 isoform I

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (1) summary
    cd01850
    Location:447724
    CDC_Septin; CDC/Septin GTPase family
  8. NM_001389674.1NP_001376603.1  neuronal-specific septin-3 isoform J

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (1) summary
    cd01850
    Location:46320
    CDC_Septin; CDC/Septin GTPase family
  9. NM_001389675.1NP_001376604.1  neuronal-specific septin-3 isoform K

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (1) summary
    cd01850
    Location:46320
    CDC_Septin; CDC/Septin GTPase family
  10. NM_001389676.1NP_001376605.1  neuronal-specific septin-3 isoform L

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (1) summary
    cd01850
    Location:67290
    CDC_Septin; CDC/Septin GTPase family
  11. NM_001389677.1NP_001376606.1  neuronal-specific septin-3 isoform M

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (1) summary
    cd01850
    Location:67290
    CDC_Septin; CDC/Septin GTPase family
  12. NM_001389678.1NP_001376607.1  neuronal-specific septin-3 isoform N

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (1) summary
    cd01850
    Location:54277
    CDC_Septin; CDC/Septin GTPase family
  13. NM_001389679.1NP_001376608.1  neuronal-specific septin-3 isoform O

    Status: REVIEWED

    Source sequence(s)
    Z99716
    Conserved Domains (1) summary
    cd01850
    Location:4269
    CDC_Septin; CDC/Septin GTPase family
  14. NM_019106.6NP_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, ENST00000396425.7
    Conserved Domains (1) summary
    cd01850
    Location:59333
    CDC_Septin; CDC/Septin GTPase family
  15. NM_145733.3NP_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
    Q9UH03
    Related
    ENSP00000379704.3, ENST00000396426.7
    Conserved Domains (1) summary
    cd01850
    Location:59333
    CDC_Septin; CDC/Septin GTPase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    41969443..41998221
    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.
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