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Wikipedia

SEPT5

April 11, 2024

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

SEPTIN5
Identifiers
AliasesSEPTIN5, CDCREL, CDCREL-1, CDCREL1, H5, HCDCREL-1, PNUTL1, septin 5, SEPT5
External IDsOMIM: 602724 MGI: 1195461 HomoloGene: 74446 GeneCards: SEPTIN5
Orthologs
SpeciesHumanMouse
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 MbChr 16: 18.44 – 18.45 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

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 edit

SEPT5 has been shown to interact with:

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000184702 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. S2CID 30822245.

Further reading edit

  • 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. S2CID 30822245.
  • 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. S2CID 22853459.
  • 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.


 

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.

April 11, 2024
sept5, septin, protein, that, humans, encoded, gene, septin5identifiersaliasesseptin5, cdcrel, cdcrel, cdcrel1, hcdcrel, pnutl1, septin, external, idsomim, 602724, 1195461, homologene, 74446, genecards, septin5gene, location, human, chromosome, human, band22q1. Septin 5 is a protein that in humans is encoded by the SEPT5 gene 5 6 7 SEPTIN5IdentifiersAliasesSEPTIN5 CDCREL CDCREL 1 CDCREL1 H5 HCDCREL 1 PNUTL1 septin 5 SEPT5External IDsOMIM 602724 MGI 1195461 HomoloGene 74446 GeneCards SEPTIN5Gene location Human Chr Chromosome 22 human 1 Band22q11 21Start19 714 503 bp 1 End19 724 224 bp 1 Gene location Mouse Chr Chromosome 16 mouse 2 Band16 A3 16 11 53 cMStart18 439 252 bp 2 End18 448 704 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminenceprefrontal cortexnucleus accumbensamygdalacaudate nucleusputamenskin of abdomenanterior pituitaryBrodmann area 9right uterine tubeTop expressed insuperior frontal gyrushippocampus properolfactory bulbhypothalamusileumganglionic eminencecerebellar cortexjejunumlipesophagusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionnucleotide binding GTP binding protein binding structural molecule activity GTPase activity molecular adaptor activityCellular componentcytoplasm plasma membrane cytoskeleton synaptic vesicle septin ring microtubule cytoskeleton septin complex septin filament arrayBiological processcell 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 cytokinesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez541318951EnsemblENSG00000184702ENSMUSG00000072214UniProtQ99719Q9Z2Q6RefSeq mRNA NM 002688NM 001009939NM 213614RefSeq protein NP 001009939NP 002679NP 998779Location UCSC Chr 22 19 71 19 72 MbChr 16 18 44 18 45 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 References 4 Further readingFunction editThis 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 editSEPT5 has been shown to interact with PARK2 8 9 and SEPT8 10 11 References edit a b c GRCh38 Ensembl release 89 ENSG00000184702 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000072214 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 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 a b Entrez Gene SEPT5 septin 5 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 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 Blaser 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 Blaser 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 S2CID 30822245 Further reading editYagi 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 Blaser 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 S2CID 30822245 Blaser 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 Bueler 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 Blaser S Horn J Wurmell P Bauer H Strumpell 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 S2CID 22853459 Martinez 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 nbsp This article on a gene on human chromosome 22 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SEPT5 amp oldid 1191555036, wikipedia, wiki, book, books, library,

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