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Protein

Septin-4

Gene

SEPT4

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

Functioni

Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). 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: CAFA
  • GTP binding Source: CAFA
  • magnesium ion binding Source: CAFA
  • protein homodimerization activity Source: CAFA
  • 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
  • protein homooligomerization Source: CAFA
  • regulation of apoptotic process Source: UniProtKB
  • sperm capacitation Source: Ensembl
  • sperm mitochondrion organization Source: Ensembl

Keywordsi

Biological processCell cycle, Cell division, Differentiation, Spermatogenesis
LigandGTP-binding, Nucleotide-binding

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

EuPathDBiHostDB:ENSG00000108387.14
HGNCiHGNC:9165 SEPT4
MIMi603696 gene
neXtProtiNX_O43236

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum, 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. Component of a septin core octomeric complex consisting of SEPT12, SEPT7, SEPT6 and SEPT2 or SEPT4 in the order 12-7-6-2-2-6-7-12 or 12-7-6-4-4-6-7-12 and located in the sperm annulus. Isoform ARTS, but no other isoforms, interacts with XIAP after the induction of apoptosis.By similarity4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein homodimerization activity Source: CAFA

Protein-protein interaction databases

BioGridi111415, 16 interactors
IntActiO43236, 7 interactors
MINTiO43236
STRINGi9606.ENSP00000321674

Structurei

3D structure databases

DisProtiDP00537
ProteinModelPortaliO43236
SMRiO43236
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini141 – 414Septin-type GPROSITE-ProRule annotationAdd BLAST274

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni151 – 158G1 motifPROSITE-ProRule annotation8
Regioni208 – 211G3 motifPROSITE-ProRule annotation4
Regioni289 – 292G4 motifPROSITE-ProRule annotation4

Coiled coil

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

Sequence similaritiesi

Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG2655 Eukaryota
COG5019 LUCA
GeneTreeiENSGT00910000144020
HOVERGENiHBG065093
InParanoidiO43236
KOiK16943
OMAiFSGNESC
OrthoDBiEOG091G07TS
PhylomeDBiO43236
TreeFamiTF101079

Family and domain databases

CDDicd01850 CDC_Septin, 1 hit
InterProiView protein in InterPro
IPR030379 G_SEPTIN_dom
IPR027417 P-loop_NTPase
IPR016491 Septin
IPR030643 Septin4
PANTHERiPTHR18884:SF71 PTHR18884:SF71, 1 hit
PfamiView protein in Pfam
PF00735 Septin, 1 hit
PIRSFiPIRSF006698 Septin, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51719 G_SEPTIN, 1 hit

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 dbSNP:rs17741424Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiSEPT4_HUMAN
AccessioniPrimary (citable) accession number: O43236
Secondary accession number(s): B2RD42
, B3KSX9, B4DXC6, B4DXV5, Q6IAP3, Q9H315, Q9UM58
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 1, 1998
Last modified: May 23, 2018
This is version 162 of the entry and version 1 of the sequence. See 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

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