GLE1L
Nukleoporin GLE1 je protein koji je kod ljudi kodiran genom GLE1 sa hromosoma 9.[5][6][7]
Aminokiselinska sekvenca uredi
Dužina polipeptidnog lanca je 698 aminokiselina, а molekulska težina Da. 79 836[8].
10 | 20 | 30 | 40 | 50 | ||||
---|---|---|---|---|---|---|---|---|
MPSEGRCWET | LKALRSSDKG | RLCYYRDWLL | RREDVLEECM | SLPKLSSYSG | ||||
WVVEHVLPHM | QENQPLSETS | PSSTSASALD | QPSFVPKSPD | ASSAFSPASP | ||||
ATPNGTKGKD | ESQHTESMVL | QSSRGIKVEG | CVRMYELVHR | MKGTEGLRLW | ||||
QEEQERKVQA | LSEMASEQLK | RFDEWKELKQ | HKEFQDLREV | MEKSSREALG | ||||
HQEKLKAEHR | HRAKILNLKL | REAEQQRVKQ | AEQERLRKEE | GQIRLRALYA | ||||
LQEEMLQLSQ | QLDASEQHKA | LLKVDLAAFQ | TRGNQLCSLI | SGIIRASSES | ||||
SYPTAESQAE | AERALREMRD | LLMNLGQEIT | RACEDKRRQD | EEEAQVKLQE | ||||
AQMQQGPEAH | KEPPAPSQGP | GGKQNEDLQV | KVQDITMQWY | QQLQDASMQC | ||||
VLTFEGLTNS | KDSQAKKIKM | DLQKAATIPV | SQISTIAGSK | LKEIFDKIHS | ||||
LLSGKPVQSG | GRSVSVTLNP | QGLDFVQYKL | AEKFVKQGEE | EVASHHEAAF | ||||
PIAVVASGIW | ELHPRVGDLI | LAHLHKKCPY | SVPFYPTFKE | GMALEDYQRM | ||||
LGYQVKDSKV | EQQDNFLKRM | SGMIRLYAAI | IQLRWPYGNR | QEIHPHGLNH | ||||
GWRWLAQILN | MEPLSDVTAT | LLFDFLEVCG | NALMKQYQVQ | FWKMLILIKE | ||||
DYFPRIEAIT | SSGQMGSFIR | LKQFLEKCLQ | HKDIPVPKGF | LTSSFWRS |
Funkcija uredi
Ovaj gen kodira predviđeni polipeptid od 75 kDa sa dugom sekvencom i visokom homologijom strukture sa kvaščevim Gle1p, koji je jedarni protein sa jedarnom eksportnom sekvencom bogatom leucinom neophodnom za eksport poli (A)+RNK. Inhibicija ljudskog GLE1L mikroinjekcijom antitijela protiv GLE1L u HeLa ćelijama rezultirala je inhibicijom eksporta poli (A)+RNK. Studije imunoflourescencije pokazuju da je GLE1L lokaliziran u kompleksima jedarnih pora. Ova lokalizacija sugerira da GLE1L može djelovati na terminalnom koraku u izvozu poruka zrele RNK u citoplazmu. Za ovaj gen su pronađene dvije alternativno prerađene varijante transkripta koje kodiraju različite izoforme.[7]
Klinički značaj uredi
Skriningom i analizom povezivanja za cijeli genom dodijeljen je lokus bolesti sindrom smrtonosne kongenitalne kontrakture, jedne od 40 bolesti finskog naslijeđa, u definiranom području od 9q34, gdje se nalazi gen GLE1.[9] Mutations in GLEI have been identified in families with foetal motoneuron disease.[10]
Interakcije uredi
Pokazano je da GLE1L ima interakcije sa NUP155.[11]
Reference uredi
- ^ a b c GRCh38: Ensembl release 89: ENSG00000119392 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019715 - Ensembl, maj 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.
- ^ Watkins JL, Murphy R, Emtage JL, Wente SR (Jul 1998). "The human homologue of Saccharomyces cerevisiae Gle1p is required for poly(A)+ RNA export". Proc Natl Acad Sci U S A. 95 (12): 6779–84. Bibcode:1998PNAS...95.6779W. doi:10.1073/pnas.95.12.6779. PMC 22633. PMID 9618489.
- ^ Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L (Jan 2008). "Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease". Nat Genet. 40 (2): 155–7. doi:10.1038/ng.2007.65. PMC 2684619. PMID 18204449.
- ^ a b "Entrez Gene: GLE1L GLE1 RNA export mediator-like (yeast)".
- ^ "UniProt, Q53GS7". Pristupljeno 9. 9. 2021.
- ^ Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Palotie A, Peltonen L (1997). "The assignment the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34". Am. J. Hum. Genet. 61 (suppl): A30.
- ^ Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L (februar 2008). "Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease". Nature Genetics. 40 (2): 155–157. doi:10.1038/ng.2007.65. PMC 2684619. PMID 18204449.
- ^ Rayala HJ, Kendirgi F, Barry DM, Majerus PW, Wente SR (Feb 2004). "The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155". Mol. Cell. Proteomics. 3 (2): 145–55. doi:10.1074/mcp.M300106-MCP200. PMID 14645504.
Dopunska literatura uredi
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Kendirgi F, Barry DM, Griffis ER, Powers MA, Wente SR (2003). "An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export". J. Cell Biol. 160 (7): 1029–40. doi:10.1083/jcb.200211081. PMC 2172758. PMID 12668658.
- Rayala HJ, Kendirgi F, Barry DM, Majerus PW, Wente SR (2004). "The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155". Mol. Cell. Proteomics. 3 (2): 145–55. doi:10.1074/mcp.M300106-MCP200. PMID 14645504.
- Kendirgi F, Rexer DJ, Alcázar-Román AR, Onishko HM, Wente SR (2006). "Interaction between the Shuttling mRNA Export Factor Gle1 and the Nucleoporin hCG1: A Conserved Mechanism in the Export of Hsp70 mRNA". Mol. Biol. Cell. 16 (9): 4304–15. doi:10.1091/mbc.E04-11-0998. PMC 1196339. PMID 16000379.