SEPT5

SEPTIN5
Identifiers
Aliases	SEPTIN5 , CDCREL, CDCREL-1, CDCREL1, H5, HCDCREL-1, PNUTL1, septin 5, SEPT5
External IDs	OMIM: 602724 MGI: 1195461 HomoloGene: 74446 GeneCards: SEPTIN5
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q11.21 Start 19,714,503 bp [1] End 19,724,224 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16 A3|16 11.53 cM Start 18,439,252 bp [2] End 18,448,704 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence prefrontal cortex nucleus accumbens amygdala caudate nucleus putamen skin of abdomen anterior pituitary Brodmann area 9 right uterine tube Top expressed in superior frontal gyrus hippocampus proper olfactory bulb hypothalamus ileum ganglionic eminence cerebellar cortex jejunum lip esophagus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding GTP binding protein binding structural molecule activity GTPase activity molecular adaptor activity Cellular component cytoplasm plasma membrane cytoskeleton synaptic vesicle septin ring microtubule cytoskeleton septin complex septin filament array Biological process cell cycle regulation of synaptic vesicle exocytosis synaptic vesicle targeting cell division regulation of exocytosis mitotic cytokinesis septin ring assembly cilium assembly adult behavior social behavior cytoskeleton-dependent cytokinesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5413 18951 Ensembl ENSG00000184702 ENSMUSG00000072214 UniProt Q99719 Q9Z2Q6 RefSeq (mRNA) NM_002688 NM_001009939 NM_213614 RefSeq (protein) NP_001009939 NP_002679 NP_998779 Location (UCSC) Chr 22: 19.71 – 19.72 Mb Chr 16: 18.44 – 18.45 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Septin-5 is a protein that in humans is encoded by the SEPT5 gene. ^{[5] [6] [7]}

Function

This gene is a member of the septin gene 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 mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Two transcripts of this gene, a major one of 2.2 kb and a minor one of 3.5 kb, have been observed. The 2.2 kb form results from the utilization of a non-consensus polyA signal (AACAAT). In the absence of polyadenylation from this imperfect site, the consensus polyA signal of the downstream neighboring gene (GP1BB; platelet glycoprotein Ib) is used, resulting in the 3.5 kb transcript. An alternatively spliced transcript variant with a different 5' end has also been identified, but its full-length nature has not been completely determined. ^[7]

Interactions

SEPT5 has been shown to interact with:

• PARK2, ^{[8] [9]} and
• SEPT8 ^{[10] [11]}

References

1. GRCh38: Ensembl release 89: ENSG00000184702 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000072214 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. McKie JM, Sutherland HF, Harvey E, Kim UJ, Scambler PJ (November 1997). "A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11". Human Genetics. 101 (1): 6–12. doi:10.1007/s004390050576. PMID   9385360. S2CID   21377515.
6. Yagi M, Zieger B, Roth GJ, Ware J (June 1998). "Structure and expression of the human septin gene HCDCREL-1". Gene. 212 (2): 229–36. doi:10.1016/S0378-1119(98)00146-2. PMID   9611266.
7. "Entrez Gene: SEPT5 septin 5".
8. Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, Lim K, Chung KK, Kehoe K, D'Adamio L, Lee JM, Cochran E, Bowser R, Dawson TM, Wolozin B (October 2003). "SEPT5_v2 is a parkin-binding protein". Brain Research. Molecular Brain Research. 117 (2): 179–89. doi:10.1016/S0169-328X(03)00318-8. PMID   14559152.
9. Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, Dong JT, Li M, Joshi HC, Zhou J (December 2008). "Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase". The Journal of Biological Chemistry. 283 (51): 35783–8. doi: 10.1074/jbc.M806860200 . PMID   18845538.
10. Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B (July 2003). "Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202)". Gene. 312: 313–20. doi:10.1016/S0378-1119(03)00635-8. PMID   12909369.
11. Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B (May 2002). "Human septin-septin interaction: CDCrel-1 partners with KIAA0202". FEBS Letters. 519 (1–3): 169–72. doi: 10.1016/S0014-5793(02)02749-7 . PMID   12023038.

Further reading

• Yagi M, Edelhoff S, Disteche CM, Roth GJ (July 1994). "Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta". The Journal of Biological Chemistry. 269 (26): 17424–7. doi: 10.1016/S0021-9258(17)32456-0 . PMID   8021244.
• Zieger B, Hashimoto Y, Ware J (February 1997). "Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence". The Journal of Clinical Investigation. 99 (3): 520–5. doi:10.1172/JCI119188. PMC   507827 . PMID   9022087.
• Megonigal MD, Rappaport EF, Jones DH, Williams TM, Lovett BD, Kelly KM, Lerou PH, Moulton T, Budarf ML, Felix CA (May 1998). "t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes". Proceedings of the National Academy of Sciences of the United States of America. 95 (11): 6413–8. Bibcode:1998PNAS...95.6413M. doi: 10.1073/pnas.95.11.6413 . PMC   27754 . PMID   9600980.
• Hsu SC, Hazuka CD, Roth R, Foletti DL, Heuser J, Scheller RH (June 1998). "Subunit composition, protein interactions, and structures of the mammalian brain sec6/8 complex and septin filaments". Neuron. 20 (6): 1111–22. doi: 10.1016/S0896-6273(00)80493-6 . PMID   9655500.
• Caltagarone J, Rhodes J, Honer WG, Bowser R (August 1998). "Localization of a novel septin protein, hCDCrel-1, in neurons of human brain". NeuroReport. 9 (12): 2907–12. doi:10.1097/00001756-199808240-00042. PMID   9760144. S2CID   10343782.
• Beites CL, Xie H, Bowser R, Trimble WS (May 1999). "The septin CDCrel-1 binds syntaxin and inhibits exocytosis". Nature Neuroscience. 2 (5): 434–9. doi:10.1038/8100. PMID   10321247. S2CID   5863477.
• Zhang Y, Gao J, Chung KK, Huang H, Dawson VL, Dawson TM (November 2000). "Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1". Proceedings of the National Academy of Sciences of the United States of America. 97 (24): 13354–9. Bibcode:2000PNAS...9713354Z. doi: 10.1073/pnas.240347797 . PMC   27228 . PMID   11078524.
• Larisch S, Yi Y, Lotan R, Kerner H, Eimerl S, Tony Parks W, Gottfried Y, Birkey Reffey S, de Caestecker MP, Danielpour D, Book-Melamed N, Timberg R, Duckett CS, Lechleider RJ, Steller H, Orly J, Kim SJ, Roberts AB (December 2000). "A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif". Nature Cell Biology. 2 (12): 915–21. doi:10.1038/35046566. PMID   11146656. S2CID   12321788.
• Dent J, Kato K, Peng XR, Martinez C, Cattaneo M, Poujol C, Nurden P, Nurden A, Trimble WS, Ware J (March 2002). "A prototypic platelet septin and its participation in secretion". Proceedings of the National Academy of Sciences of the United States of America. 99 (5): 3064–9. Bibcode:2002PNAS...99.3064D. doi: 10.1073/pnas.052715199 . PMC   122473 . PMID   11880646.
• Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B (May 2002). "Human septin-septin interaction: CDCrel-1 partners with KIAA0202". FEBS Letters. 519 (1–3): 169–72. doi: 10.1016/S0014-5793(02)02749-7 . PMID   12023038.
• Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B (July 2003). "Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202)". Gene. 312: 313–20. doi:10.1016/S0378-1119(03)00635-8. PMID   12909369.
• Dong Z, Ferger B, Paterna JC, Vogel D, Furler S, Osinde M, Feldon J, Büeler H (October 2003). "Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein, CDCrel-1". Proceedings of the National Academy of Sciences of the United States of America. 100 (21): 12438–43. Bibcode:2003PNAS..10012438D. doi: 10.1073/pnas.2132992100 . PMC   218776 . PMID   14530399.
• Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, Lim K, Chung KK, Kehoe K, D'Adamio L, Lee JM, Cochran E, Bowser R, Dawson TM, Wolozin B (October 2003). "SEPT5_v2 is a parkin-binding protein". Brain Research. Molecular Brain Research. 117 (2): 179–89. doi:10.1016/S0169-328X(03)00318-8. PMID   14559152.
• Bläser S, Horn J, Würmell P, Bauer H, Strümpell S, Nurden P, Pagenstecher A, Busse A, Wunderle D, Hainmann I, Zieger B (May 2004). "The novel human platelet septin SEPT8 is an interaction partner of SEPT4". Thrombosis and Haemostasis. 91 (5): 959–66. doi:10.1160/TH03-09-0578. PMID   15116257.
• Martínez C, Sanjuan MA, Dent JA, Karlsson L, Ware J (September 2004). "Human septin-septin interactions as a prerequisite for targeting septin complexes in the cytosol". The Biochemical Journal. 382 (Pt 3): 783–91. doi:10.1042/BJ20040372. PMC   1133953 . PMID   15214843.
• Lehner B, Sanderson CM (July 2004). "A protein interaction framework for human mRNA degradation". Genome Research. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC   442147 . PMID   15231747.