Reviewed,
UniProtKB/Swiss-Prot O43236 (SEPT4_HUMAN)
Last modified
January 19, 2010.
Version 88.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended 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 |
| ||||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 478 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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. Cytoplasm › cytoskeleton 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. |
Ontologies
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 478 | 478 | Septin-4 | PRO_0000173519 | |||||
Regions | |||||||||
| Nucleotide binding | 151 – 158 | 8 | GTP By similarity | ||||||
| Nucleotide binding | 292 – 298 | 7 | GTP By similarity | ||||||
| Coiled coil | 447 – 478 | 32 | Potential | ||||||
Sites | |||||||||
| Binding site | 348 | 1 | GTP; via amide nitrogen and carbonyl oxygen By similarity | ||||||
| Binding site | 365 | 1 | GTP By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 325 | 1 | Phosphoserine Ref.17 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 147 | 147 | Missing in isoform 5. | VSP_038302 | |||||
| Alternative sequence | 1 – 20 | 20 | MDRSL…RTEAG → M in isoform 2 and isoform 6. | VSP_006050 | |||||
| Alternative sequence | 1 – 20 | 20 | MDRSL…RTEAG → MPGFYSVMTDEE in isoform 3. | VSP_038303 | |||||
| Alternative sequence | 1 – 20 | 20 | MDRSL…RTEAG → MRSSPALFSSRAAPQKPRKE GSQAAGLLVFSDSLE in isoform 4. | VSP_038304 | |||||
| Alternative sequence | 267 – 293 | 27 | LRPLD…AKADT → YGPSLRLLAPPGAVKGTGQE HQGQGCH in isoform 6. | VSP_038305 | |||||
| Alternative sequence | 294 – 478 | 185 | Missing in isoform 6. | VSP_038306 | |||||
| Natural variant | 311 | 1 | E → V: dbSNP rs17741424. | VAR_051935 | |||||
Experimental info | |||||||||
| Mutagenesis | 156 – 158 | 3 | GKS → ENP: Loss of TGF-beta-induced apoptosis. No translocation to the nucleus following TGF-beta treatment. Loss of XIAP-binding. Ref.3 | ||||||
| Sequence conflict | 156 | 1 | G → D in BAG37789. Ref.7 | ||||||
| Sequence conflict | 382 | 1 | K → E in BAG63517. Ref.7 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||||||||
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. 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. 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. |
| IPI | IPI00011589. IPI00026430. IPI00183878. IPI00939537. IPI00952695. IPI00953305. |
| RefSeq | NP_004565.1. NP_536340.1. NP_536341.1. |
| UniGene | Hs.287518 |
3D structure databases | |
| SMR | O43236. Positions 127-410. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O43236. 2 interactions. |
| STRING | O43236. |
PTM databases | |
| PhosphoSite | O43236. |
Proteomic databases | |
| PRIDE | O43236. |
Genome annotation databases | |
| Ensembl | ENST00000317268; ENSP00000321674; ENSG00000108387; Homo sapiens. [Genome view] |
| GeneID | 5414. |
| KEGG | hsa:5414. |
| UCSC | uc002iwk.1. human. uc002iwm.1. human. |
Organism-specific databases | |
| CTD | 5414. |
| GeneCards | GC17M053953. |
| H-InvDB | HIX0014033. |
| HGNC | HGNC:9165. SEPT4. |
| HPA | CAB006855. HPA021587. HPA022905. |
| MIM | 603696. gene. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG17220. |
| HOVERGEN | O43236. |
| InParanoid | O43236. |
| PhylomeDB | O43236. |
Gene expression databases | |
| ArrayExpress | O43236. |
| Bgee | O43236. |
| CleanEx | HS_SEPT4. |
| Genevestigator | O43236. |
| GermOnline | ENSG00000108387. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000038. Cell_Div_GTP_bd. [Graphical view] |
| PANTHER | PTHR18884. Cell_Div_GTP_bd. 1 hit. |
| Pfam | PF00735. Septin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 20961. |
| SOURCE | Search... |
Entry information
| Entry name | SEPT4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O43236 Secondary accession number(s): B2RD42 Q9UM58 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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 |

Clusters with


