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Protein

Septin-4

Gene

SEPT4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of cell death mediated by TGF-beta and by other apoptotic stimuli.By similarityCurated5 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei185GTPBy similarity1
Binding sitei211GTP; via amide nitrogenBy similarity1
Binding sitei348GTP; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei363GTPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi151 – 158GTPBy similarity8
Nucleotide bindingi290 – 298GTPBy similarity9

GO - Molecular functioni

  • GTPase activity Source: ProtInc
  • GTP binding Source: UniProtKB-KW
  • structural molecule activity Source: ProtInc

GO - Biological processi

  • apoptotic process Source: UniProtKB
  • brain development Source: Ensembl
  • cell cycle Source: UniProtKB-KW
  • cell division Source: UniProtKB-KW
  • positive regulation of apoptotic process Source: UniProtKB
  • positive regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
  • positive regulation of protein ubiquitination Source: UniProtKB
  • regulation of apoptotic process Source: UniProtKB
  • sperm capacitation Source: Ensembl
  • sperm mitochondrion organization Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108387-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Septin-4
Alternative name(s):
Apoptosis-related protein in the TGF-beta signaling pathway
Short name:
ARTS
Bradeion beta
Brain protein H5
CE5B3 beta
Cell division control-related protein 2
Short name:
hCDCREL-2
Cerebral protein 7
Peanut-like protein 2
Gene namesi
Name:SEPT4
Synonyms:ARTS, PNUTL2, SEP4
ORF Names:hucep-7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:9165. SEPT4.

Subcellular locationi

Isoform ARTS :
  • Mitochondrion
  • Nucleus

  • Note: While predominantly localized in the mitochondria under resting conditions, isoform ARTS translocates into the nucleus after TGF-beta treatment and apoptosis induction.

GO - Cellular componenti

  • cytoskeleton Source: UniProtKB-SubCell
  • mitochondrion Source: UniProtKB
  • myelin sheath Source: Ensembl
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • sperm annulus Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Mitochondrion, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi156 – 158GKS → ENP: Loss of TGF-beta-induced apoptosis. No translocation to the nucleus following TGF-beta treatment. Loss of XIAP-binding. 1 Publication3

Organism-specific databases

DisGeNETi5414.
OpenTargetsiENSG00000108387.
PharmGKBiPA33487.

Polymorphism and mutation databases

BioMutaiSEPT4.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001735191 – 478Septin-4Add BLAST478

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei117PhosphoserineCombined sources1
Modified residuei118PhosphoserineCombined sources1
Modified residuei325PhosphoserineCombined sources1
Modified residuei432PhosphoserineBy similarity1
Modified residuei434PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO43236.
PaxDbiO43236.
PeptideAtlasiO43236.
PRIDEiO43236.

PTM databases

iPTMnetiO43236.
PhosphoSitePlusiO43236.

Expressioni

Tissue specificityi

Widely expressed in adult and fetal tissues with highest expression in adult brain (at protein level), heart, liver and adrenal gland and fetal heart, kidney, liver and lung. Also expressed in colorectal cancers and malignant melanomas. Expressed in platelets.6 Publications

Gene expression databases

BgeeiENSG00000108387.
CleanExiHS_SEPT4.
ExpressionAtlasiO43236. baseline and differential.
GenevisibleiO43236. HS.

Organism-specific databases

HPAiCAB006855.
HPA021587.
HPA022905.

Interactioni

Subunit structurei

Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation (By similarity). Interacts with SEPT8. In a mesenchymal cell line, interacts with SEPT9 isoform 2 variants HNA Trp-106 and Phe-111, but not the wild type SEPT9. Isoform ARTS, but no other isoforms, interacts with XIAP after the induction of apoptosis.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
SIAH1Q8IUQ42EBI-4372019,EBI-747107
XIAPP981704EBI-4372019,EBI-517127

Protein-protein interaction databases

BioGridi111415. 15 interactors.
IntActiO43236. 7 interactors.
MINTiMINT-2999234.
STRINGi9606.ENSP00000321674.

Structurei

3D structure databases

DisProtiDP00537.
ProteinModelPortaliO43236.
SMRiO43236.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini141 – 414Septin-type GAdd BLAST274

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili447 – 478Sequence analysisAdd BLAST32

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG2655. Eukaryota.
COG5019. LUCA.
GeneTreeiENSGT00860000133688.
HOVERGENiHBG065093.
InParanoidiO43236.
KOiK16943.
OMAiPPEVDRK.
OrthoDBiEOG091G07TS.
PhylomeDBiO43236.
TreeFamiTF101079.

Family and domain databases

CDDicd01850. CDC_Septin. 1 hit.
Gene3Di3.40.50.300. 1 hit.
InterProiIPR030379. G_SEPTIN_dom.
IPR027417. P-loop_NTPase.
IPR016491. Septin.
IPR030643. Septin4.
[Graphical view]
PANTHERiPTHR18884. PTHR18884. 1 hit.
PTHR18884:SF71. PTHR18884:SF71. 1 hit.
PfamiPF00735. Septin. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51719. G_SEPTIN. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43236-1) [UniParc]FASTAAdd to basket
Also known as: PNUTL2, PNUTL2a, H5/CDCrel2, SEPT4_i1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDRSLGWQGN SVPEDRTEAG IKRFLEDTTD DGELSKFVKD FSGNASCHPP
60 70 80 90 100
EAKTWASRPQ VPEPRPQAPD LYDDDLEFRP PSRPQSSDNQ QYFCAPAPLS
110 120 130 140 150
PSARPRSPWG KLDPYDSSED DKEYVGFATL PNQVHRKSVK KGFDFTLMVA
160 170 180 190 200
GESGLGKSTL VNSLFLTDLY RDRKLLGAEE RIMQTVEITK HAVDIEEKGV
210 220 230 240 250
RLRLTIVDTP GFGDAVNNTE CWKPVAEYID QQFEQYFRDE SGLNRKNIQD
260 270 280 290 300
NRVHCCLYFI SPFGHGLRPL DVEFMKALHQ RVNIVPILAK ADTLTPPEVD
310 320 330 340 350
HKKRKIREEI EHFGIKIYQF PDCDSDEDED FKLQDQALKE SIPFAVIGSN
360 370 380 390 400
TVVEARGRRV RGRLYPWGIV EVENPGHCDF VKLRTMLVRT HMQDLKDVTR
410 420 430 440 450
ETHYENYRAQ CIQSMTRLVV KERNRNKLTR ESGTDFPIPA VPPGTDPETE
460 470
KLIREKDEEL RRMQEMLHKI QKQMKENY
Length:478
Mass (Da):55,098
Last modified:June 1, 1998 - v1
Checksum:i2F08D3611EF6523D
GO
Isoform 2 (identifier: O43236-2) [UniParc]FASTAAdd to basket
Also known as: PNUTL2b

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDRSLGWQGNSVPEDRTEAG → M

Show »
Length:459
Mass (Da):53,042
Checksum:iC0779A770DC7415A
GO
Isoform 3 (identifier: O43236-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDRSLGWQGNSVPEDRTEAG → MPGFYSVMTDEE

Note: No experimental confirmation available.
Show »
Length:470
Mass (Da):54,298
Checksum:iBDBB6EB9570D9913
GO
Isoform 4 (identifier: O43236-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDRSLGWQGNSVPEDRTEAG → MRSSPALFSSRAAPQKPRKEGSQAAGLLVFSDSLE

Note: No experimental confirmation available.
Show »
Length:493
Mass (Da):56,613
Checksum:iD015198B93C0ED49
GO
Isoform 5 (identifier: O43236-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-147: Missing.

Note: No experimental confirmation available.
Show »
Length:331
Mass (Da):38,542
Checksum:iA860BD705573901C
GO
Isoform ARTS (identifier: O43236-6) [UniParc]FASTAAdd to basket
Also known as: SEPT4_i2

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDRSLGWQGNSVPEDRTEAG → M
     267-293: LRPLDVEFMKALHQRVNIVPILAKADT → YGPSLRLLAPPGAVKGTGQEHQGQGCH
     294-478: Missing.

Note: May be defective in GTP-binding.
Show »
Length:274
Mass (Da):30,809
Checksum:i7FA8D55492E9348F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti156G → D in BAG37789 (Ref. 7) Curated1
Sequence conflicti382K → E in BAG63517 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051935311E → V.Corresponds to variant rs17741424dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0383021 – 147Missing in isoform 5. 1 PublicationAdd BLAST147
Alternative sequenceiVSP_0060501 – 20MDRSL…RTEAG → M in isoform 2 and isoform ARTS. 4 PublicationsAdd BLAST20
Alternative sequenceiVSP_0383031 – 20MDRSL…RTEAG → MPGFYSVMTDEE in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_0383041 – 20MDRSL…RTEAG → MRSSPALFSSRAAPQKPRKE GSQAAGLLVFSDSLE in isoform 4. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_038305267 – 293LRPLD…AKADT → YGPSLRLLAPPGAVKGTGQE HQGQGCH in isoform ARTS. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_038306294 – 478Missing in isoform ARTS. 1 PublicationAdd BLAST185

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF073312 mRNA. Translation: AAC25673.1.
U88829 mRNA. Translation: AAD00653.1.
U88870 mRNA. Translation: AAD00657.1.
AF176379 mRNA. Translation: AAG45673.1.
AB008753 mRNA. Translation: BAB70695.1.
D89278 mRNA. Translation: BAB46922.1.
AF035811 mRNA. Translation: AAB88512.1.
CR457111 mRNA. Translation: CAG33392.1.
AK315396 mRNA. Translation: BAG37789.1.
AK094579 mRNA. Translation: BAG52891.1.
AK294094 mRNA. Translation: BAG57432.1.
AK301914 mRNA. Translation: BAG63338.1.
AK302146 mRNA. Translation: BAG63517.1.
CH471109 Genomic DNA. Translation: EAW94440.1.
CH471109 Genomic DNA. Translation: EAW94442.1.
BC018056 mRNA. Translation: AAH18056.3.
CCDSiCCDS11609.1. [O43236-2]
CCDS11610.1. [O43236-1]
CCDS45743.1. [O43236-6]
CCDS56041.1. [O43236-3]
CCDS58581.1. [O43236-5]
CCDS58582.1. [O43236-4]
RefSeqiNP_001185642.1. NM_001198713.1. [O43236-3]
NP_001243711.1. NM_001256782.1. [O43236-4]
NP_001243751.1. NM_001256822.1. [O43236-5]
NP_004565.1. NM_004574.4. [O43236-1]
NP_536340.1. NM_080415.3. [O43236-6]
NP_536341.1. NM_080416.3. [O43236-2]
XP_006722017.1. XM_006721954.2. [O43236-5]
XP_006722018.1. XM_006721955.2. [O43236-5]
XP_011523213.1. XM_011524911.1. [O43236-5]
XP_011523214.1. XM_011524912.1. [O43236-5]
UniGeneiHs.287518.

Genome annotation databases

EnsembliENST00000317256; ENSP00000321071; ENSG00000108387. [O43236-2]
ENST00000317268; ENSP00000321674; ENSG00000108387. [O43236-1]
ENST00000393086; ENSP00000376801; ENSG00000108387. [O43236-2]
ENST00000412945; ENSP00000414779; ENSG00000108387. [O43236-3]
ENST00000426861; ENSP00000402348; ENSG00000108387. [O43236-6]
ENST00000457347; ENSP00000402000; ENSG00000108387. [O43236-4]
ENST00000583114; ENSP00000463768; ENSG00000108387. [O43236-5]
GeneIDi5414.
KEGGihsa:5414.
UCSCiuc002iwm.4. human. [O43236-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF073312 mRNA. Translation: AAC25673.1.
U88829 mRNA. Translation: AAD00653.1.
U88870 mRNA. Translation: AAD00657.1.
AF176379 mRNA. Translation: AAG45673.1.
AB008753 mRNA. Translation: BAB70695.1.
D89278 mRNA. Translation: BAB46922.1.
AF035811 mRNA. Translation: AAB88512.1.
CR457111 mRNA. Translation: CAG33392.1.
AK315396 mRNA. Translation: BAG37789.1.
AK094579 mRNA. Translation: BAG52891.1.
AK294094 mRNA. Translation: BAG57432.1.
AK301914 mRNA. Translation: BAG63338.1.
AK302146 mRNA. Translation: BAG63517.1.
CH471109 Genomic DNA. Translation: EAW94440.1.
CH471109 Genomic DNA. Translation: EAW94442.1.
BC018056 mRNA. Translation: AAH18056.3.
CCDSiCCDS11609.1. [O43236-2]
CCDS11610.1. [O43236-1]
CCDS45743.1. [O43236-6]
CCDS56041.1. [O43236-3]
CCDS58581.1. [O43236-5]
CCDS58582.1. [O43236-4]
RefSeqiNP_001185642.1. NM_001198713.1. [O43236-3]
NP_001243711.1. NM_001256782.1. [O43236-4]
NP_001243751.1. NM_001256822.1. [O43236-5]
NP_004565.1. NM_004574.4. [O43236-1]
NP_536340.1. NM_080415.3. [O43236-6]
NP_536341.1. NM_080416.3. [O43236-2]
XP_006722017.1. XM_006721954.2. [O43236-5]
XP_006722018.1. XM_006721955.2. [O43236-5]
XP_011523213.1. XM_011524911.1. [O43236-5]
XP_011523214.1. XM_011524912.1. [O43236-5]
UniGeneiHs.287518.

3D structure databases

DisProtiDP00537.
ProteinModelPortaliO43236.
SMRiO43236.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111415. 15 interactors.
IntActiO43236. 7 interactors.
MINTiMINT-2999234.
STRINGi9606.ENSP00000321674.

PTM databases

iPTMnetiO43236.
PhosphoSitePlusiO43236.

Polymorphism and mutation databases

BioMutaiSEPT4.

Proteomic databases

MaxQBiO43236.
PaxDbiO43236.
PeptideAtlasiO43236.
PRIDEiO43236.

Protocols and materials databases

DNASUi5414.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317256; ENSP00000321071; ENSG00000108387. [O43236-2]
ENST00000317268; ENSP00000321674; ENSG00000108387. [O43236-1]
ENST00000393086; ENSP00000376801; ENSG00000108387. [O43236-2]
ENST00000412945; ENSP00000414779; ENSG00000108387. [O43236-3]
ENST00000426861; ENSP00000402348; ENSG00000108387. [O43236-6]
ENST00000457347; ENSP00000402000; ENSG00000108387. [O43236-4]
ENST00000583114; ENSP00000463768; ENSG00000108387. [O43236-5]
GeneIDi5414.
KEGGihsa:5414.
UCSCiuc002iwm.4. human. [O43236-1]

Organism-specific databases

CTDi5414.
DisGeNETi5414.
GeneCardsiSEPT4.
HGNCiHGNC:9165. SEPT4.
HPAiCAB006855.
HPA021587.
HPA022905.
MIMi603696. gene.
neXtProtiNX_O43236.
OpenTargetsiENSG00000108387.
PharmGKBiPA33487.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2655. Eukaryota.
COG5019. LUCA.
GeneTreeiENSGT00860000133688.
HOVERGENiHBG065093.
InParanoidiO43236.
KOiK16943.
OMAiPPEVDRK.
OrthoDBiEOG091G07TS.
PhylomeDBiO43236.
TreeFamiTF101079.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108387-MONOMER.

Miscellaneous databases

ChiTaRSiSEPT4. human.
GeneWikiiSEPT4.
GenomeRNAii5414.
PROiO43236.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108387.
CleanExiHS_SEPT4.
ExpressionAtlasiO43236. baseline and differential.
GenevisibleiO43236. HS.

Family and domain databases

CDDicd01850. CDC_Septin. 1 hit.
Gene3Di3.40.50.300. 1 hit.
InterProiIPR030379. G_SEPTIN_dom.
IPR027417. P-loop_NTPase.
IPR016491. Septin.
IPR030643. Septin4.
[Graphical view]
PANTHERiPTHR18884. PTHR18884. 1 hit.
PTHR18884:SF71. PTHR18884:SF71. 1 hit.
PfamiPF00735. Septin. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51719. G_SEPTIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSEPT4_HUMAN
AccessioniPrimary (citable) accession number: O43236
Secondary accession number(s): B2RD42
, B3KSX9, B4DXC6, B4DXV5, Q6IAP3, Q9H315, Q9UM58
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 1, 1998
Last modified: November 30, 2016
This is version 150 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.