GLE1L

Nukleoporin GLE1 je protein koji je kod ljudi kodiran genom GLE1 sa hromosoma 9.^[5][6][7]

GLE1L
Identifikatori
Aliasi	GLE1
Vanjski ID-jevi	OMIM: 603371 MGI: 1921662 HomoloGene: 20379 GeneCards: GLE1
Lokacija gena (čovjek) Hrom. Hromosom 9 (čovjek)[1] Bend 9q34.11 Početak 128,504,655 bp[1] Kraj 128,543,874 bp[1]
Lokacija gena (miš) Hrom. Hromosom 2 (miš)[2] Bend 2|2 B Početak 29,825,438 bp[2] Kraj 29,850,383 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • vezivanje identičnih proteina • GO:0001948, GO:0016582 vezivanje za proteine • inositol hexakisphosphate binding • phospholipid binding • translation initiation factor binding Ćelijska komponenta • membrana • jedro • nuclear pore cytoplasmic filaments • jedrova pora • Vanćelijsko • Jedarce • citoplazma • citosol • Jedarna membrana Biološki proces • protein transport • poly(A)+ mRNA export from nucleus • mRNA transport • mRNA export from nucleus • regulation of translational termination • regulation of translational initiation • GO:0015915 transport Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	2733	74412
Ensembl	ENSG00000119392	ENSMUSG00000019715
UniProt	Q53GS7	Q8R322
RefSeq (mRNK)	NM_001003722 NM_001499	NM_028923
RefSeq (bjelančevina)	NP_001003722 NP_001490	NP_083199
Lokacija (UCSC)	Chr 9: 128.5 – 128.54 Mb	Chr 2: 29.83 – 29.85 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 698 aminokiselina, а molekulska težina Da. 79 836^[8].

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

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

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

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

Pokazano je da GLE1L ima interakcije sa NUP155.^[11]

Reference

1. GRCh38: Ensembl release 89: ENSG00000119392 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000019715 - Ensembl, maj 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. 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.
6. 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.
7. "Entrez Gene: GLE1L GLE1 RNA export mediator-like (yeast)".
8. "UniProt, Q53GS7". Pristupljeno 9. 9. 2021.
9. 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.
10. 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.
11. 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

• 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.