LOCUS       NM_001013437            1851 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens SEH1 like nucleoporin (SEH1L), transcript variant 1,
            mRNA.
ACCESSION   NM_001013437
VERSION     NM_001013437.2
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 1851)
  AUTHORS   Jiang,C., Dai,X., He,S., Zhou,H., Fang,L., Guo,J., Liu,S.,
            Zhang,T., Pan,W., Yu,H., Fu,T., Li,D., Inuzuka,H., Wang,P., Xiao,J.
            and Wei,W.
  TITLE     Ring domains are essential for GATOR2-dependent mTORC1 activation
  JOURNAL   Mol Cell 83 (1), 74-89 (2023)
   PUBMED   36528027
REFERENCE   2  (bases 1 to 1851)
  AUTHORS   Valenstein,M.L., Rogala,K.B., Lalgudi,P.V., Brignole,E.J., Gu,X.,
            Saxton,R.A., Chantranupong,L., Kolibius,J., Quast,J.P. and
            Sabatini,D.M.
  TITLE     Structure of the nutrient-sensing hub GATOR2
  JOURNAL   Nature 607 (7919), 610-616 (2022)
   PUBMED   35831510
REFERENCE   3  (bases 1 to 1851)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 1851)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1851)
  AUTHORS   Platani,M., Samejima,I., Samejima,K., Kanemaki,M.T. and
            Earnshaw,W.C.
  TITLE     Seh1 targets GATOR2 and Nup153 to mitotic chromosomes
  JOURNAL   J Cell Sci 131 (9) (2018)
   PUBMED   29618633
  REMARK    GeneRIF: Analysis reveals a role for Seh1 at human centromeres,
            where it is required for efficient localisation of the chromosomal
            passenger complex (CPC).
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1851)
  AUTHORS   Loiodice,I., Alves,A., Rabut,G., Van Overbeek,M., Ellenberg,J.,
            Sibarita,J.B. and Doye,V.
  TITLE     The entire Nup107-160 complex, including three new members, is
            targeted as one entity to kinetochores in mitosis
  JOURNAL   Mol Biol Cell 15 (7), 3333-3344 (2004)
   PUBMED   15146057
REFERENCE   7  (bases 1 to 1851)
  AUTHORS   Enninga,J., Levay,A. and Fontoura,B.M.
  TITLE     Sec13 shuttles between the nucleus and the cytoplasm and stably
            interacts with Nup96 at the nuclear pore complex
  JOURNAL   Mol Cell Biol 23 (20), 7271-7284 (2003)
   PUBMED   14517296
  REMARK    GeneRIF: Sec13 stably interacts with Nup96 at the NPC during
            interphase and the shuttling of Sec13 between the nucleus and the
            cytoplasm may couple and regulate functions between these two
            compartments
REFERENCE   8  (bases 1 to 1851)
  AUTHORS   Le Rouzic,E., Mousnier,A., Rustum,C., Stutz,F., Hallberg,E.,
            Dargemont,C. and Benichou,S.
  TITLE     Docking of HIV-1 Vpr to the nuclear envelope is mediated by the
            interaction with the nucleoporin hCG1
  JOURNAL   J Biol Chem 277 (47), 45091-45098 (2002)
   PUBMED   12228227
REFERENCE   9  (bases 1 to 1851)
  AUTHORS   Cronshaw,J.M., Krutchinsky,A.N., Zhang,W., Chait,B.T. and
            Matunis,M.J.
  TITLE     Proteomic analysis of the mammalian nuclear pore complex
  JOURNAL   J Cell Biol 158 (5), 915-927 (2002)
   PUBMED   12196509
REFERENCE   10 (bases 1 to 1851)
  AUTHORS   Shiota,C., Coffey,J., Grimsby,J., Grippo,J.F. and Magnuson,M.A.
  TITLE     Nuclear import of hepatic glucokinase depends upon glucokinase
            regulatory protein, whereas export is due to a nuclear export
            signal sequence in glucokinase
  JOURNAL   J Biol Chem 274 (52), 37125-37130 (1999)
   PUBMED   10601273
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB990796.1, AF136976.1,
            BC012430.1 and AK056940.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001013437.1.
            
            Summary: The protein encoded by this gene is part of a nuclear pore
            complex, Nup107-160. This protein contains WD repeats and shares
            34% amino acid identity with yeast Seh1 and 30% identity with yeast
            Sec13. All constituents of the Nup107-160 complex, including this
            protein, specifically localize to kinetochores in mitosis. Two
            alternatively spliced transcript variants encoding distinct
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer 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 :: SRR3476690.317301.1,
                                           SRR1660807.148198.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000399892.7/ ENSP00000382779.1
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 CB990796.1         55-59
            6-254               AF136976.1         1-249
            255-1136            BC012430.1         236-1117
            1137-1847           AK056940.1         1127-1837
            1848-1851           AF136976.1         3476-3479
FEATURES             Location/Qualifiers
     source          1..1851
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.21"
     gene            1..1851
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="SEH1 like nucleoporin"
                     /db_xref="GeneID:81929"
                     /db_xref="HGNC:HGNC:30379"
                     /db_xref="MIM:609263"
     exon            1..222
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..1377
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="isoform 1 is encoded by transcript variant 1; sec13
                     like protein; nucleoporin Seh1; nup107-160 subcomplex
                     subunit SEH1; GATOR2 complex protein SEH1; SEC13-like
                     protein; GATOR complex protein SEH1"
                     /codon_start=1
                     /product="nucleoporin SEH1 isoform 1"
                     /protein_id="NP_001013455.1"
                     /db_xref="CCDS:CCDS32791.1"
                     /db_xref="GeneID:81929"
                     /db_xref="HGNC:HGNC:30379"
                     /db_xref="MIM:609263"
                     /translation="MFVARSIAADHKDLIHDVSFDFHGRRMATCSSDQSVKVWDKSES
                     GDWHCTASWKTHSGSVWRVTWAHPEFGQVLASCSFDRTAAVWEEIVGESNDKLRGQSH
                     WVKRTTLVDSRTSVTDVKFAPKHMGLMLATCSADGIVRIYEAPDVMNLSQWSLQHEIS
                     CKLSCSCISWNPSSSRAHSPMIAVGSDDSSPNAMAKVQIFEYNENTRKYAKAETLMTV
                     TDPVHDIAFAPNLGRSFHILAIATKDVRIFTLKPVRKELTSSGGPTKFEIHIVAQFDN
                     HNSQVWRVSWNITGTVLASSGDDGCVRLWKANYMDNWKCTGILKGNGSPVNGSSQQGT
                     SNPSLGSTIPSLQNSLNGSSAGRYFFTPLDSPRAGSRWSSYAQLLPPPPPPLVEHSCD
                     ADTANLQYPHPRRRYLSRPLNPLPENEGI"
     exon            223..273
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            274..420
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            421..632
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            633..731
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            732..872
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            873..1030
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1181
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1851
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1820..1825
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="hexamer: AATAAA"
     polyA_site      1851
                     /gene="SEH1L"
                     /gene_synonym="SEC13L; Seh1; SEH1A; SEH1B"
                     /note="major polyA site"
ORIGIN      
        1 agcacaagcc gtgcgctccc gggctgcgag gtctggctag gctacgggcc acgcgccgcc
       61 gccgctgccg ccgccactgt cctcttcgga ggcgcgggcc cgacggaaac catgtttgtg
      121 gctcgcagca tcgcggcgga ccacaaggat ctcatccacg atgtctcttt cgacttccac
      181 gggcggcgga tggcaacctg ctccagcgat cagagcgtta aggtctggga taaaagtgaa
      241 agtggtgatt ggcattgtac tgctagctgg aagacacata gtggatctgt atggcgtgtg
      301 acatgggccc atcctgaatt tgggcaggtt ttggcttcct gttcttttga ccgaacagct
      361 gctgtatggg aagaaatagt aggagaatca aatgataaac tgcgaggaca gagccactgg
      421 gttaaaagga caactctggt ggatagcaga acatctgtta ctgatgtgaa gtttgctccc
      481 aagcacatgg gtcttatgtt agcaacctgt tccgcagatg gtatagtaag aatctatgag
      541 gcaccagatg ttatgaatct cagccagtgg tctttgcagc atgagatctc atgtaagcta
      601 agctgtagtt gtatttcttg gaacccttca agctctcgtg ctcattcccc catgatcgcc
      661 gtaggaagtg atgacagtag ccccaacgca atggccaagg ttcagatttt tgaatataat
      721 gaaaacacca ggaaatatgc aaaagctgaa actcttatga cagtcactga tcctgttcat
      781 gatattgcat tcgctccaaa tttgggaaga tctttccata ttctagcaat agcgaccaaa
      841 gatgtgagaa tttttacatt aaagcctgtg aggaaagaac tgacttcctc tggtgggcca
      901 acaaagtttg aaatccatat agtggctcag ttcgataatc ataattctca ggtctggcga
      961 gtgagttgga atataacagg aacggtgcta gcatcttcag gagatgatgg gtgtgtaaga
     1021 ttgtggaaag ctaattatat ggacaattgg aagtgtactg gtattttgaa aggtaatggg
     1081 agcccagtca atgggagttc tcagcaggga acctcaaatc cttccctagg ttcaactatt
     1141 ccaagtcttc agaattcatt aaatggatct tctgctggca ggtatttctt tacccctctg
     1201 gattccccac gggctggatc gagatggtcc agttatgccc agctccttcc tcctcctcct
     1261 cctcctctgg tagagcactc ttgcgatgct gacactgcca acctccagta tcctcaccct
     1321 cgcagacgat atctctctcg gcctcttaat cccttacctg agaatgaagg gatttaaaac
     1381 actgatttaa cattgaaagg ccttattcaa gtgcttgtaa atgctttcat ttctggctgc
     1441 tttttgtttt tcattttctt tcagaagatt tttctaactt agggtctgtc ttgcatgtat
     1501 tacaaccaga atacagtgtt tggaacctaa atctgtttgt gcgtctgcat caaaggaaca
     1561 tttgcttcac tgggtgataa cctttgatga aatgagatat gtccaagtaa cgttaactgt
     1621 gaagttacac acagtagctg acttcaaagt gcctgttctg taaattttat tttaaactgt
     1681 taccatagtc ttaagttgtt tatgctttat cagactggct aatgtgaaag cataatatta
     1741 tgaagtttat tctgccttat gagaccttaa aaaatggatt tcattttaca ggctaatgtt
     1801 gtaactgact agtatgtaaa ataaatcatt cctgtgtata aagcagcaaa a
//
