Skip Header

Contribute Send feedback
Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot O43236 (SEPT4_HUMAN)

Last modified January 19, 2010. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Septin-4
Alternative name(s):
    Peanut-like protein 2
    Brain protein H5
    Cell division control-related protein 2
      Short name=hCDCREL-2
    Bradeion beta
    CE5B3 beta
    Cerebral protein 7
Gene names
Name: SEPT4
Synonyms: PNUTL2, SEP4
ORF Names: hucep-7
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length478 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Filament-forming cytoskeletal GTPase By similarity. May play a role in cytokinesis Potential. May play a role in platelet secretion. Isoform 6, but not the other isoforms, is required for the induction of cell death mediated by TGF-beta and by other apoptotic stimuli. Ref.1 Ref.3 Ref.11 Ref.13 Ref.16

Subunit structure

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 6, but no other isoforms, interacts with XIAP after the induction of apoptosis. Ref.11 Ref.16 Ref.15

Subcellular location

Cytoplasm By similarity. Cytoplasmcytoskeleton By similarity. Note: In platelets, found in areas surrounding alpha-granules. Ref.3 Ref.11 Ref.16

Isoform 6: Mitochondrion. Nucleus. Note: While predominantly localized in the mitochondria under resting conditions, isoform 6 translocates into the nucleus after TGF-beta treatment and apoptosis induction. Ref.3 Ref.11 Ref.16

Tissue specificity

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. Ref.1 Ref.3 Ref.11 Ref.2 Ref.4 Ref.14

Sequence similarities

Belongs to the septin family.

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43236-1)

Also known as: PNUTL2a;

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.
Isoform 2 (identifier: O43236-2)

Also known as: PNUTL2b;

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDRSLGWQGNSVPEDRTEAG → M
Isoform 3 (identifier: O43236-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDRSLGWQGNSVPEDRTEAG → MPGFYSVMTDEE
Note: No experimental confirmation available.
Isoform 4 (identifier: O43236-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDRSLGWQGNSVPEDRTEAG → MRSSPALFSSRAAPQKPRKEGSQAAGLLVFSDSLE
Note: No experimental confirmation available.
Isoform 5 (identifier: O43236-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-147: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: O43236-6)

Also known as: Apoptosis-related protein in the TGF-beta signaling pathway; ARTS;

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDRSLGWQGNSVPEDRTEAG → M
     267-293: LRPLDVEFMKALHQRVNIVPILAKADT → YGPSLRLLAPPGAVKGTGQEHQGQGCH
     294-478: Missing.
Note: While predominantly localized in the mitochondria under resting conditions, isoform 6 translocates into the nucleus after TGF-beta treatment and apoptosis induction. Ref.3 Ref.11 Ref.16 May be defective in GTP-binding.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 478478Septin-4
PRO_0000173519

Regions

Nucleotide binding151 – 1588GTP By similarity
Nucleotide binding292 – 2987GTP By similarity
Coiled coil447 – 47832 Potential

Sites

Binding site3481GTP; via amide nitrogen and carbonyl oxygen By similarity
Binding site3651GTP By similarity

Amino acid modifications

Modified residue3251Phosphoserine Ref.17

Natural variations

Alternative sequence1 – 147147Missing in isoform 5.
VSP_038302
Alternative sequence1 – 2020MDRSL…RTEAG → M in isoform 2 and isoform 6.
VSP_006050
Alternative sequence1 – 2020MDRSL…RTEAG → MPGFYSVMTDEE in isoform 3.
VSP_038303
Alternative sequence1 – 2020MDRSL…RTEAG → MRSSPALFSSRAAPQKPRKE GSQAAGLLVFSDSLE in isoform 4.
VSP_038304
Alternative sequence267 – 29327LRPLD…AKADT → YGPSLRLLAPPGAVKGTGQE HQGQGCH in isoform 6.
VSP_038305
Alternative sequence294 – 478185Missing in isoform 6.
VSP_038306
Natural variant3111E → V: dbSNP rs17741424.
VAR_051935

Experimental info

Mutagenesis156 – 1583GKS → ENP: Loss of TGF-beta-induced apoptosis. No translocation to the nucleus following TGF-beta treatment. Loss of XIAP-binding. Ref.3
Sequence conflict1561G → D in BAG37789. Ref.7
Sequence conflict3821K → E in BAG63517. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (PNUTL2a) [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: 2F08D3611EF6523D

FASTA47855,098
        10         20         30         40         50         60 
MDRSLGWQGN SVPEDRTEAG IKRFLEDTTD DGELSKFVKD FSGNASCHPP EAKTWASRPQ 

        70         80         90        100        110        120 
VPEPRPQAPD LYDDDLEFRP PSRPQSSDNQ QYFCAPAPLS PSARPRSPWG KLDPYDSSED 

       130        140        150        160        170        180 
DKEYVGFATL PNQVHRKSVK KGFDFTLMVA GESGLGKSTL VNSLFLTDLY RDRKLLGAEE 

       190        200        210        220        230        240 
RIMQTVEITK HAVDIEEKGV RLRLTIVDTP GFGDAVNNTE CWKPVAEYID QQFEQYFRDE 

       250        260        270        280        290        300 
SGLNRKNIQD NRVHCCLYFI SPFGHGLRPL DVEFMKALHQ RVNIVPILAK ADTLTPPEVD 

       310        320        330        340        350        360 
HKKRKIREEI EHFGIKIYQF PDCDSDEDED FKLQDQALKE SIPFAVIGSN TVVEARGRRV 

       370        380        390        400        410        420 
RGRLYPWGIV EVENPGHCDF VKLRTMLVRT HMQDLKDVTR ETHYENYRAQ CIQSMTRLVV 

       430        440        450        460        470 
KERNRNKLTR ESGTDFPIPA VPPGTDPETE KLIREKDEEL RRMQEMLHKI QKQMKENY 

« Hide

Isoform 2 (PNUTL2b).

Checksum: C0779A770DC7415A
Show »

FASTA45953,042
Isoform 3.

Checksum: BDBB6EB9570D9913
Show »

FASTA47054,298
Isoform 4.

Checksum: D015198B93C0ED49
Show »

FASTA49356,613
Isoform 5.

Checksum: A860BD705573901C
Show »

FASTA33138,542
Isoform 6 (Apoptosis-related protein in the TGF-beta signaling pathway) (ARTS).

Checksum: 7FA8D55492E9348F
Show »

FASTA27430,809

References

« Hide 'large scale' references
[1]"Characterization of a novel gene, PNUTL2, on human chromosome 17q22-q23 and its exclusion as the Meckel syndrome gene."
Paavola P., Horelli-Kuitunen N., Palotie A., Peltonen L.
Genomics 55:122-125(1999) [PubMed: 9889007] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
[2]"Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2."
Zieger B., Tran H., Hainmann I., Wunderle D., Zgaga-Griesz A., Blaeser S., Ware J.
Gene 261:197-203(2000) [PubMed: 11167005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
Tissue: Brain and Fetal brain.
[3]"A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif."
Larisch S., Yi Y., Lotan R., Kerner H., Eimerl S., Parks W.T., Yossi G., Reffey S.B., de Caestecker M.P., Danielpour D., Book-Melamed N., Timberg R., Duckett C., Lechleider R.J., Steller H., Orly J., Kim S.-J., Roberts A.B.
Nat. Cell Biol. 2:915-921(2000) [PubMed: 11146656] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MUTAGENESIS OF 156-GLY--SER-158.
Tissue: Fetal brain.
[4]"Characterization of tissue- and cell-type-specific expression of a novel human septin family gene, Bradeion."
Tanaka M., Tanaka T., Kijima H., Itoh J., Matsuda T., Hori S., Yamamoto M.
Biochem. Biophys. Res. Commun. 286:547-553(2001) [PubMed: 11511094] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
Tissue: Brain.
[5]"Molecular cloning of a new GTP binding protein from human brain."
Yoshimoto M., Yazaki M., Matsumoto K., Takayama K.
Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain.
[6]Zha D., Hu G.
Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[7]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[8]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 5).
Tissue: Amygdala, Brain cortex, Subthalamic nucleus and Testis.
[9]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Hippocampus.
[11]"The novel human platelet septin SEPT8 is an interaction partner of SEPT4."
Blaeser S., Horn J., Wuermell P., Bauer H., Struempell S., Nurden P., Pagenstecher A., Busse A., Wunderle D., Hainmann I., Zieger B.
Thromb. Haemost. 91:959-966(2004) [PubMed: 15116257] [Abstract]
Cited for: FUNCTION, INTERACTION WITH SEPT8, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[12]Lubec G., Chen W.-Q.
Submitted (JAN-2009) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 141-157 AND 282-290, MASS SPECTROMETRY.
Tissue: Fetal brain.
[13]"Regulation of the proapoptotic ARTS protein by ubiquitin-mediated degradation."
Lotan R., Rotem A., Gonen H., Finberg J.P.M., Kemeny S., Steller H., Ciechanover A., Larisch S.
J. Biol. Chem. 280:25802-25810(2005) [PubMed: 15837787] [Abstract]
Cited for: FUNCTION.
[14]"Expression profiling the human septin gene family."
Hall P.A., Jung K., Hillan K.J., Russell S.E.H.
J. Pathol. 206:269-278(2005) [PubMed: 15915442] [Abstract]
Cited for: TISSUE SPECIFICITY.
[15]"SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling."
Sudo K., Ito H., Iwamoto I., Morishita R., Asano T., Nagata K.
Hum. Mutat. 28:1005-1013(2007) [PubMed: 17546647] [Abstract]
Cited for: INTERACTION WITH SEPT9 HNA VARIANTS.
[16]"The mitochondrial ARTS protein promotes apoptosis through targeting XIAP."
Gottfried Y., Rotem A., Lotan R., Steller H., Larisch S.
EMBO J. 23:1627-1635(2004) [PubMed: 15029247] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH XIAP.
[17]"Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
Proteomics 8:1346-1361(2008) [PubMed: 18318008] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-325, MASS SPECTROMETRY.
Tissue: Liver.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
IPIIPI00011589.
IPI00026430.
IPI00183878.
IPI00939537.
IPI00952695.
IPI00953305.
RefSeqNP_004565.1.
NP_536340.1.
NP_536341.1.
UniGeneHs.287518

3D structure databases

SMRO43236. Positions 127-410.
ModBaseSearch...

Protein-protein interaction databases

IntActO43236. 2 interactions.
STRINGO43236.

PTM databases

PhosphoSiteO43236.

Proteomic databases

PRIDEO43236.

Genome annotation databases

EnsemblENST00000317268; ENSP00000321674; ENSG00000108387; Homo sapiens. [Genome view]
GeneID5414.
KEGGhsa:5414.
UCSCuc002iwk.1. human.
uc002iwm.1. human.

Organism-specific databases

CTD5414.
GeneCardsGC17M053953.
H-InvDBHIX0014033.
HGNCHGNC:9165. SEPT4.
HPACAB006855.
HPA021587.
HPA022905.
MIM603696. gene.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG17220.
HOVERGENO43236.
InParanoidO43236.
PhylomeDBO43236.

Gene expression databases

ArrayExpressO43236.
BgeeO43236.
CleanExHS_SEPT4.
GenevestigatorO43236.
GermOnlineENSG00000108387. Homo sapiens.

Family and domain databases

InterProIPR000038. Cell_Div_GTP_bd.
[Graphical view]
PANTHERPTHR18884. Cell_Div_GTP_bd. 1 hit.
PfamPF00735. Septin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio20961.
SOURCESearch...

Entry information

Entry nameSEPT4_HUMAN
AccessionPrimary (citable) accession number: O43236
Secondary accession number(s): B2RD42 expand/collapse secondary AC list , B3KSX9, B4DXC6, B4DXV5, Q6IAP3, Q9H315, Q9UM58
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 1, 1998
Last modified: January 19, 2010
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents