SEPTIN3 septin 3 [Homo sapiens (human)] - Gene

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular Recognition at Septin Interfaces: The Switches Hold the Key.
Title: Molecular Recognition at Septin Interfaces: The Switches Hold the Key.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Citalopram and escitalopram plasma drug and metabolite concentrations: genome-wide associations. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D22S307 (e-PCR)
- UniSTS:39683

NoName (e-PCR)
- UniSTS:490000

RH104005 (e-PCR)
- UniSTS:98330

D22S1178 (e-PCR)
- UniSTS:51745

D22S410E (e-PCR)
- UniSTS:90720

D22S1261 (e-PCR)
- UniSTS:75730

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)

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

41969443..41998221

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NM_145734.1: Suppressed sequence

Description

NM_145734.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.