SEPTIN4 septin 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEPTIN4provided by HGNC
Official Full Name: septin 4provided by HGNC
Primary source: HGNC:HGNC:9165
See related: Ensembl:ENSG00000108387 MIM:603696; AllianceGenome:HGNC:9165
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: H5; ARTS; MART; SEP4; CE5B3; SEPT4; PNUTL2; hucep-7; BRADEION; C17orf47; Septin-4; hCDCREL-2
Summary: This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
Expression: Biased expression in brain (RPKM 37.9), adrenal (RPKM 26.6) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q22

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (58520256..58544328, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (59388127..59412197, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (56597617..56621689, complement)

Chromosome 17 - NC_000017.11 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?

The ARTS of p53-dependent mitochondrial apoptosis.
Title: The ARTS of p53-dependent mitochondrial apoptosis.
Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.
Title: Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.
p53 induces ARTS to promote mitochondrial apoptosis.
Title: p53 induces ARTS to promote mitochondrial apoptosis.
Role of WW domain E3 ubiquitin protein ligase 2 in modulating ubiquitination and Degradation of Septin4 in oxidative stress endothelial injury.
Title: Role of WW domain E3 ubiquitin protein ligase 2 in modulating ubiquitination and Degradation of Septin4 in oxidative stress endothelial injury.
Septin4 regulates endoplasmic reticulum stress and apoptosis in melatonininduced osteoblasts.
Title: Septin4 regulates endoplasmic reticulum stress and apoptosis in melatonin‑induced osteoblasts.
carnosic acid induces parkin by enhancing the ubiquitination of ARTS, leading to induction of XIAP.
Title: Modulation of ARTS and XIAP by Parkin Is Associated with Carnosic Acid Protects SH-SY5Y Cells against 6-Hydroxydopamine-Induced Apoptosis.
In this review, we will discuss the recent advances of the tauopathy research, primarily focusing on its association with the early axonal manifestation of axonal transport defect, axonal mitochondrial stress, autophagic vesicle accumulation and the proceeding of axon destruction, and the pathogenic Tau spreading across the synapse.
Title: Untangling the Tauopathy for Alzheimer's disease and parkinsonism.
Septin4 is a novel essential factor involved in oxidative stress induced vascular endothelial cell injury by interacting with apoptosis-related protein PARP1.
Title: Septin4 as a novel binding partner of PARP1 contributes to oxidative stress induced human umbilical vein endothelial cells injure.
The data suggest that Sept4_i1 induces hepatic stellate cell apoptosis by inhibiting Akt and Bcl-2 expression and up-regulating PPAR-gamma expression.
Title: Septin4_i1 regulates apoptosis in hepatic stellate cells through peroxisome proliferator-activated receptor-γ/Akt/B-cell lymphoma 2 pathway.
results suggest that Septin4 may be involved in the process of activation of hepatic stellate cells by lipopolysaccharide stimulation.
Title: Expression of Septin4 in human hepatic stellate cells LX-2 stimulated by LPS.

Submit: New GeneRIF Correction See all GeneRIFs (36)

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
Meta-analysis identifies four new loci associated with testicular germ cell tumor. 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

D17S1387E (e-PCR)
- UniSTS:56083

D17S1470E (e-PCR)
- UniSTS:151677

SHGC-32067 (e-PCR)
- UniSTS:3539

WI-15444 (e-PCR)
- UniSTS:63743

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables magnesium ion binding	IMP Inferred from Mutant Phenotype 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
enables structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in cytoskeleton-dependent cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in hematopoietic stem cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatid differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cell division site	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in perikaryon	ISS Inferred from Sequence or Structural Similarity more info
part_of septin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of septin complex	IDA Inferred from Direct Assay more info	PubMed
part_of septin complex	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in septin ring	IBA Inferred from Biological aspect of Ancestor more info
is_active_in sperm annulus	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm annulus	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: septin-4

Names: CE5B3 beta; apoptosis-related protein in the TGF-beta signaling pathway; bradeion beta; brain protein H5; cell division control-related protein 2; cerebral protein 7; peanut-like protein 2; septin-M; uncharacterized protein C17orf47

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.

Genomic

NG_029570.1 RefSeqGene

Range

1491..25563

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001038704.4 → NP_001033793.3 septin-4 isoform 13

Status: REVIEWED

Source sequence(s)

AC005666, AK097440, BC022189

Consensus CDS

CCDS32691.1

Related

ENSP00000354874.2, ENST00000321691.3

Conserved Domains (1) summary

pfam15548
Location:2 → 534

DUF4655; Domain of unknown function (DUF4655)
NM_001198713.2 → NP_001185642.1 septin-4 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate 5' exon compared to variant 7, resulting in translation initiation from an alternate start codon and a shorter isoform (4) with a distinct N-terminus compared to isoform 5. This variant appears to be testis-specific.

Source sequence(s)

AF073312, AK301914

Consensus CDS

CCDS56041.1

UniProtKB/Swiss-Prot

O43236

Related

ENSP00000414779.3, ENST00000412945.7

Conserved Domains (2) summary

COG5019
Location:116 → 468

CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

pfam00735
Location:133 → 406

Septin; Septin
NM_001256782.2 → NP_001243711.1 septin-4 isoform 5

See identical proteins and their annotated locations for NP_001243711.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) encodes the longest isoform (5).

Source sequence(s)

AK294094, AK301914, BC142968

Consensus CDS

CCDS58582.1

UniProtKB/Swiss-Prot

O43236

Related

ENSP00000402000.2, ENST00000457347.6

Conserved Domains (2) summary

COG5019
Location:139 → 491

CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

pfam00735
Location:156 → 429

Septin; Septin
NM_001256822.2 → NP_001243751.1 septin-4 isoform 6

See identical proteins and their annotated locations for NP_001243751.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 7. The encoded isoform (6) is shorter than isoform 5.

Source sequence(s)

AC005666, AK294094, DA343015

Consensus CDS

CCDS58581.1

UniProtKB/TrEMBL

J3QRT6

Related

ENSP00000463768.1, ENST00000583114.5

Conserved Domains (1) summary

pfam00735
Location:1 → 267

Septin; Septin
NM_001363803.2 → NP_001350732.1 septin-4 isoform 7

Status: REVIEWED

Source sequence(s)

AC005666

Consensus CDS

CCDS86620.1

UniProtKB/TrEMBL

J3KSZ7, J3QRT6

Related

ENSP00000462727.1, ENST00000580844.5

Conserved Domains (1) summary

pfam00735
Location:43 → 315

Septin; Septin
NM_001368771.2 → NP_001355700.1 septin-4 isoform 11

Status: REVIEWED

Source sequence(s)

AC005666

Consensus CDS

CCDS92368.1

Related

ENSP00000500383.1, ENST00000672673.2

Conserved Domains (2) summary

pfam00735
Location:660 → 932

Septin

pfam15548
Location:2 → 534

DUF4655; Domain of unknown function (DUF4655)
NM_001368772.2 → NP_001355701.1 septin-4 isoform 12

Status: REVIEWED

Source sequence(s)

AC005666

Conserved Domains (1) summary

pfam00735
Location:135 → 407

Septin
NM_004574.5 → NP_004565.1 septin-4 isoform 1

See identical proteins and their annotated locations for NP_004565.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 7. It encodes isoform 1 (also known as PNUTL2a, H5, SEPT4_i1, bradeion beta, hcdcrel2a) which contains a distinct N-terminus and is shorter, compared to isoform 5.

Source sequence(s)

AF073312, DA076433

Consensus CDS

CCDS11610.1

UniProtKB/Swiss-Prot

A0A5F9ZHH3, B2RD42, B3KSX9, B4DXC6, B4DXV5, O43236, Q6IAP3, Q8N821, Q8NEP4, Q9H315, Q9UM58

Related

ENSP00000321674.3, ENST00000317268.7

Conserved Domains (1) summary

pfam00735
Location:142 → 414

Septin; Septin
NM_080415.4 → NP_536340.1 septin-4 isoform 2

See identical proteins and their annotated locations for NP_536340.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 7. This transcript contains an early translation termination site, rendering this transcript a candidate for nonsense-mediated mRNA decay (NMD). However, the encoded protein (isoform 2, also known as ARTS, SEPT4_i2), with distinct N- and C-termini compared to isoform 5, has been shown to be expressed in vivo, and characterized as a mitochondrial pro-apoptotic, tumor suppressor protein having a role in cancer (PMIDs: 11146656, 15254396).

Source sequence(s)

AF176379, DC361494

Consensus CDS

CCDS45743.1

UniProtKB/Swiss-Prot

O43236

Related

ENSP00000402348.1, ENST00000426861.5

Conserved Domains (1) summary

cl21455
Location:122 → 250

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_080416.4 → NP_536341.1 septin-4 isoform 3

See identical proteins and their annotated locations for NP_536341.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 7. It encodes isoform 3 (also known as PNUTL2b, hcdcrel2b) with a distinct N-terminus compared to isoform 5.

Source sequence(s)

AF073312, DC361494

Consensus CDS

CCDS11609.1

UniProtKB/Swiss-Prot

O43236

Related

ENSP00000321071.6, ENST00000317256.10

Conserved Domains (2) summary

COG5019
Location:105 → 457

CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

pfam00735
Location:122 → 395

Septin; Septin

RNA

NR_037155.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate 5' and 3' exon structure, compared to variant 7. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB002110, AK294094, DA076433

Related

ENST00000583273.5
NR_104196.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (8) uses an alternate 5' and 3' exon structure, compared to variant 7. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC005666, AK294094, AK315045, DA180095

Related

ENST00000584488.5
NR_104197.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9) uses an alternate 5' exon structure and includes an alternate internal segment, compared to variant 7. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC005666, AK294094, BC018055, DC361494

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

58520256..58544328 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436309.1 → XP_047292265.1 septin-4 isoform X4
XM_024450808.2 → XP_024306576.1 septin-4 isoform X8

UniProtKB/TrEMBL

J3QRT6

Conserved Domains (1) summary

pfam00735
Location:1 → 267

Septin; Septin
XM_006721952.4 → XP_006722015.1 septin-4 isoform X7

UniProtKB/TrEMBL

J3QRT6

Conserved Domains (2) summary

COG5019
Location:6 → 358

CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

pfam00735
Location:23 → 296

Septin; Septin
XM_006721950.5 → XP_006722013.1 septin-4 isoform X6

UniProtKB/TrEMBL

J3QRT6

Conserved Domains (2) summary

COG5019
Location:30 → 382

CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

pfam00735
Location:47 → 320

Septin; Septin
XM_006721949.4 → XP_006722012.1 septin-4 isoform X5

See identical proteins and their annotated locations for XP_006722012.1

Conserved Domains (2) summary

COG5019
Location:129 → 481

CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

pfam00735
Location:146 → 419

Septin; Septin
XM_006721955.4 → XP_006722018.1 septin-4 isoform X8

See identical proteins and their annotated locations for XP_006722018.1

UniProtKB/TrEMBL

J3QRT6

Conserved Domains (1) summary

pfam00735
Location:1 → 267

Septin; Septin
XM_011524912.3 → XP_011523214.1 septin-4 isoform X8

See identical proteins and their annotated locations for XP_011523214.1

UniProtKB/TrEMBL

J3QRT6

Conserved Domains (1) summary

pfam00735
Location:1 → 267

Septin; Septin
XM_047436307.1 → XP_047292263.1 septin-4 isoform X1
XM_047436308.1 → XP_047292264.1 septin-4 isoform X2
XM_011524637.3 → XP_011522939.1 septin-4 isoform X3

Conserved Domains (1) summary

pfam15548
Location:2 → 534

DUF4655; Domain of unknown function (DUF4655)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

59388127..59412197 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316522.1 → XP_054172497.1 septin-4 isoform X4
XM_054316528.1 → XP_054172503.1 septin-4 isoform X8
XM_054316525.1 → XP_054172500.1 septin-4 isoform X7
XM_054316524.1 → XP_054172499.1 septin-4 isoform X6
XM_054316523.1 → XP_054172498.1 septin-4 isoform X5
XM_054316526.1 → XP_054172501.1 septin-4 isoform X8
XM_054316527.1 → XP_054172502.1 septin-4 isoform X8
XM_054316519.1 → XP_054172494.1 septin-4 isoform X1
XM_054316520.1 → XP_054172495.1 septin-4 isoform X2
XM_054316521.1 → XP_054172496.1 septin-4 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_080417.1: Suppressed sequence

Description

NM_080417.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.