LOCUS       NM_001003722            3302 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens GLE1 RNA export mediator (GLE1), transcript variant 1,
            mRNA.
ACCESSION   NM_001003722
VERSION     NM_001003722.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3302)
  AUTHORS   Sharma,M., Mason,A.C., Dawson,T.R. and Wente,S.R.
  TITLE     Phosphorylation impacts GLE1 nuclear localization and association
            with DDX1
  JOURNAL   Adv Biol Regul 90, 100990 (2023)
   PUBMED   37801910
  REMARK    GeneRIF: Phosphorylation impacts GLE1 nuclear localization and
            association with DDX1.
REFERENCE   2  (bases 1 to 3302)
  AUTHORS   Mason,A.C. and Wente,S.R.
  TITLE     Functions of Gle1 are governed by two distinct modes of
            self-association
  JOURNAL   J Biol Chem 295 (49), 16813-16825 (2020)
   PUBMED   32981894
  REMARK    GeneRIF: Functions of Gle1 are governed by two distinct modes of
            self-association.
REFERENCE   3  (bases 1 to 3302)
  AUTHORS   Yates,T.M., Campeau,P.M., Ghoumid,J., Kibaek,M., Larsen,M.J.,
            Smol,T., Albaba,S., Hertz,J.M. and Balasubramanian,M.
  TITLE     Biallelic variants in GLE1 with survival beyond neonatal period
  JOURNAL   Clin Genet 98 (6), 622-625 (2020)
   PUBMED   32954510
  REMARK    GeneRIF: Biallelic variants in GLE1 with survival beyond neonatal
            period.
REFERENCE   4  (bases 1 to 3302)
  AUTHORS   Sharma,M. and Wente,S.R.
  TITLE     Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription
            termination sites
  JOURNAL   Mol Biol Cell 31 (21), 2398-2408 (2020)
   PUBMED   32755435
  REMARK    GeneRIF: Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at
            transcription termination sites.
REFERENCE   5  (bases 1 to 3302)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 3302)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   7  (bases 1 to 3302)
  AUTHORS   Rayala,H.J., Kendirgi,F., Barry,D.M., Majerus,P.W. and Wente,S.R.
  TITLE     The mRNA export factor human Gle1 interacts with the nuclear pore
            complex protein Nup155
  JOURNAL   Mol Cell Proteomics 3 (2), 145-155 (2004)
   PUBMED   14645504
REFERENCE   8  (bases 1 to 3302)
  AUTHORS   Kendirgi,F., Barry,D.M., Griffis,E.R., Powers,M.A. and Wente,S.R.
  TITLE     An essential role for hGle1 nucleocytoplasmic shuttling in mRNA
            export
  JOURNAL   J Cell Biol 160 (7), 1029-1040 (2003)
   PUBMED   12668658
REFERENCE   9  (bases 1 to 3302)
  AUTHORS   Makela-Bengs,P., Jarvinen,N., Vuopala,K., Suomalainen,A.,
            Ignatius,J., Sipila,M., Herva,R., Palotie,A. and Peltonen,L.
  TITLE     Assignment of the disease locus for lethal congenital contracture
            syndrome to a restricted region of chromosome 9q34, by genome scan
            using five affected individuals
  JOURNAL   Am J Hum Genet 63 (2), 506-516 (1998)
   PUBMED   9683599
REFERENCE   10 (bases 1 to 3302)
  AUTHORS   Watkins,J.L., Murphy,R., Emtage,J.L. and Wente,S.R.
  TITLE     The human homologue of Saccharomyces cerevisiae Gle1p is required
            for poly(A)+ RNA export
  JOURNAL   Proc Natl Acad Sci U S A 95 (12), 6779-6784 (1998)
   PUBMED   9618489
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM786801.1, AF058922.1,
            AL117584.1 and AA806769.1.
            
            On Dec 4, 2019 this sequence version replaced NM_001003722.1.
            
            Summary: This gene encodes a predicted 75-kDa polypeptide with high
            sequence and structure homology to yeast Gle1p, which is nuclear
            protein with a leucine-rich nuclear export sequence essential for
            poly(A)+RNA export. Inhibition of human GLE1L by microinjection of
            antibodies against GLE1L in HeLa cells resulted in inhibition of
            poly(A)+RNA export. Immunoflourescence studies show that GLE1L is
            localized at the nuclear pore complexes. This localization suggests
            that GLE1L may act at a terminal step in the export of mature RNA
            messages to the cytoplasm. Two alternatively spliced transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK222854.1, BC030012.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309971.9/ ENSP00000308622.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                BM786801.1         28-39
            13-490              AF058922.1         13-490
            491-3299            AL117584.1         1-2809
            3300-3302           AA806769.1         22-24               c
FEATURES             Location/Qualifiers
     source          1..3302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..3302
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="GLE1 RNA export mediator"
                     /db_xref="GeneID:2733"
                     /db_xref="HGNC:HGNC:4315"
                     /db_xref="MIM:603371"
     exon            1..186
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..2184
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     GLE1-like, RNA export mediator; nucleoporin GLE1;
                     GLE1-like protein; GLE1 RNA export mediator homolog; mRNA
                     export factor GLE1"
                     /codon_start=1
                     /product="mRNA export factor GLE1 isoform 1"
                     /protein_id="NP_001003722.1"
                     /db_xref="CCDS:CCDS35154.1"
                     /db_xref="GeneID:2733"
                     /db_xref="HGNC:HGNC:4315"
                     /db_xref="MIM:603371"
                     /translation="MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPK
                     LSSYSGWVVEHVLPHMQENQPLSETSPSSTSASALDQPSFVPKSPDASSAFSPASPAT
                     PNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQA
                     LSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNL
                     KLREAEQQRVKQAEQERLRKEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDL
                     AAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALREMRDLLMNLGQEITRACE
                     DKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQ
                     LQDASMQCVLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHS
                     LLSGKPVQSGGRSVSVTLNPQGLDFVQYKLAEKFVKQGEEEVASHHEAAFPIAVVASG
                     IWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKVEQQDNF
                     LKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFD
                     FLEVCGNALMKQYQVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHK
                     DIPVPKGFLTSSFWRS"
     exon            187..408
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            409..519
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            520..668
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            669..729
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            730..984
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            985..1216
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1329
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1399
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1542
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..1733
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..1863
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..1968
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1969..2051
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            2052..2115
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     exon            2116..3302
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3279..3284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="hexamer: AATAAA"
     polyA_site      3302
                     /gene="GLE1"
                     /gene_synonym="CAAHC; CAAHD; GLE1L; hGLE1; LCCS; LCCS1"
                     /note="major polyA site"
ORIGIN      
        1 agaagcctgt gtggccttcc cggcggctga ttcgagggct tgtttggtca gaaggggggc
       61 gtcagagaag ctgcccctta gccaaccatg ccgtctgagg gtcgctgctg ggagaccttg
      121 aaggccctac gcagttccga caaaggtcgc ctttgctact accgcgactg gctgctgcgg
      181 cgcgaggatg ttttagaaga atgtatgtct cttcccaagc tatcttctta ttctggatgg
      241 gtggtagagc acgtcctacc ccatatgcag gagaaccaac ctctgtctga gacttcgcca
      301 tcctctacgt cagcttcagc cctagatcaa ccctcatttg ttcccaaatc tcctgacgca
      361 agctctgcct tttccccagc ctcccctgca acaccaaatg gaaccaaggg caaagatgag
      421 tcccagcaca cagaatctat ggtacttcag tcctcacggg ggatcaaagt ggaaggctgc
      481 gtccgaatgt acgaactggt acacagaatg aaaggaacag agggcctgag gctatggcag
      541 gaggagcagg agaggaaggt gcaagccctc tcggagatgg catctgaaca actgaagcgg
      601 tttgatgaat ggaaggaact gaagcagcat aaagaattcc aggacttgcg ggaagtaatg
      661 gagaagagct ccagagaagc cttgggacac caagagaagc taaaagctga gcaccgtcac
      721 agagcaaaga ttctcaacct gaagctgcgg gaagcagagc agcagcgcgt gaagcaagca
      781 gaacaggagc ggcttcggaa ggaagaaggc cagatccgcc tgcgggccct ctatgctctg
      841 caggaggaga tgctgcagct cagccagcag ctggatgcct ctgagcagca caaagccctg
      901 cttaaggtcg acctggctgc cttccagacc cgaggcaacc agctgtgcag cctcatctca
      961 gggatcatcc gggcctcttc agagagcagc tatcccacag cagagagtca agctgaggct
     1021 gagcgagctc tgcgggaaat gcgggacctc ctgatgaact tggggcagga gatcaccaga
     1081 gcctgcgaag acaagaggag gcaggatgaa gaagaggccc aggtaaagct gcaagaggca
     1141 cagatgcagc agggaccaga ggcccacaaa gagcccccag ctcccagcca gggcccagga
     1201 gggaaacaga atgaagacct ccaggtgaag gtacaagaca ttacaatgca gtggtaccag
     1261 cagctgcagg atgcttccat gcagtgtgtg ttgacctttg agggcctgac caacagcaag
     1321 gacagtcagg ccaaaaagat aaagatggac ctccagaagg ctgctaccat cccagtgagc
     1381 caaatctcta ccattgcagg ctcaaaactg aaggagatct ttgacaagat ccacagcctg
     1441 ctctctggaa aacctgttca atctggtggg cgctctgtgt ctgtcacact taacccacag
     1501 gggctggact ttgttcaata caaactggca gagaaatttg tgaaacaagg cgaggaggaa
     1561 gtggcctctc accatgaagc agcattcccc attgcagttg tggcatccgg gatctgggag
     1621 ctccacccca gagtggggga cctcattctt gctcatctac ataagaagtg tccttactct
     1681 gttcctttct atcccacttt caaggaggga atggctttgg aagactatca gaggatgctt
     1741 ggttaccaag taaaggattc caaagtggag cagcaagaca actttctaaa acgcatgtca
     1801 gggatgatcc gtctctacgc tgctatcatc cagctccggt ggccatatgg aaaccgacag
     1861 gagattcacc ctcatggctt aaatcatgga tggcgctggt tggcacagat cttaaacatg
     1921 gagcccttgt cagatgtgac agccaccctc ctctttgact tcctggaggt gtgtgggaat
     1981 gccctcatga agcaatacca ggttcagttc tggaagatgc taattctcat caaagaggac
     2041 tactttccca gaattgaagc tatcacaagc tcaggacaga tgggctcctt catacgcctc
     2101 aagcagttct tggagaaatg tttgcaacac aaggacattc ctgtccccaa gggctttctg
     2161 acttcctcct tctggcgctc ctgatgtcac tccatcaccc accatcaccg ctgctgcaaa
     2221 gaggcaataa taaaggaact gaagacagct gtatttggga gaagtcatgt cagattcaga
     2281 aatttgccat tatgtatttt tatgtattta tgccttgtga ctaggagagg agattttcat
     2341 gggtcacaaa attcttggag gtcccttagt agatttggta gttccttaag agatccacgt
     2401 gataaaataa atggagttgg cctttcttgt tttttgcaaa agtgataaaa ggtctttagc
     2461 acttggtctc ctcccttgtc tctagtgtct ttcagaaagt tggcaatacc ttaacaaatg
     2521 cactctgagc tggagggagc ccaccatttg cacccaccta cccaccctca cccctgttca
     2581 gatgaatttc cagaaagagc taaggctcat aaggttccct tttaagtatt atttaatagt
     2641 tgaggccaga tacttacatg caagtctggg ttatggttgt tttgcctttc tcagcttgtg
     2701 aagtcattct aaagctagag gaagtatgtg atatacacat ggactaaggc tcaggtgaca
     2761 ctatggctag attaacatct gggattagga ctggaaacac atgtcatttt gaactaaggg
     2821 aaactctttg tcatcctaat ttggaatttg gtccctggat ggctagggat ccatgaacca
     2881 ggcaggtacc ttttttgttt ttgttttgtt ttgtttcttt tctgtttgaa ttaagatggg
     2941 ctaagatggg gcttgcaaca ttaaacatga gctgagcatc cataagcatt gaattgggat
     3001 taaataaaga tgttgggcag gaactgaaca ctgctaatat gatgataaat atgcctgact
     3061 aaagccacta cagaaatcca gagattggct gttaaaattt gttttgtgga aagactaatt
     3121 ctctttgata ctgcagaggc agtggccatg gatctgttcc tctgtgctaa atgtcttgtg
     3181 gcagggtgtg tttgtggggg agtgttcact ggtactcttg agtggcctga agtgacccat
     3241 tctatgaatt gttaattaag gtgccaaaaa aaattaataa taaagcttgg ttttttgaaa
     3301 aa
//
