LOCUS       NM_005701               1420 bp    mRNA    linear   PRI 27-JUL-2024
DEFINITION  Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA.
ACCESSION   NM_005701
VERSION     NM_005701.4
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 1420)
  AUTHORS   Nashabat,M., Nabavizadeh,N., Saracoglu,H.P., Saribas,B., Avci,S.,
            Borklu,E., Beillard,E., Yilmaz,E., Uygur,S.E., Kayhan,C.K.,
            Bosco,L., Eren,Z.B., Steindl,K., Richter,M.F., Bademci,G.,
            Rauch,A., Fattahi,Z., Valentino,M.L., Connolly,A.M., Bahr,A.,
            Viola,L., Bergmann,A.K., Rocha,M.E., Peart,L., Castro-Rojas,D.L.,
            Bultmann,E., Khan,S., Giarrana,M.L., Teleanu,R.I., Gonzalez,J.M.,
            Pini,A., Schadlich,I.S., Vill,K., Brugger,M., Zuchner,S., Pinto,A.,
            Donkervoort,S., Bivona,S.A., Riza,A., Streata,I., Glaser,D.,
            Baquero-Montoya,C., Garcia-Restrepo,N., Kotzaeridou,U., Brunet,T.,
            Epure,D.A., Bertoli-Avella,A., Kariminejad,A., Tekin,M., von
            Hardenberg,S., Bonnemann,C.G., Stettner,G.M., Zanni,G.,
            Kayserili,H., Oflazer,Z.P. and Escande-Beillard,N.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     SNUPN deficiency causes a recessive muscular dystrophy due to RNA
            mis-splicing and ECM dysregulation
  JOURNAL   Nat Commun 15 (1), 1758 (2024)
   PUBMED   38413582
  REMARK    GeneRIF: SNUPN deficiency causes a recessive muscular dystrophy due
            to RNA mis-splicing and ECM dysregulation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1420)
  AUTHORS   Friedrichs,S., Malzahn,D., Pugh,E.W., Almeida,M., Liu,X.Q. and
            Bailey,J.N.
  TITLE     Filtering genetic variants and placing informative priors based on
            putative biological function
  JOURNAL   BMC Genet 17 Suppl 2 (Suppl 2), 8 (2016)
   PUBMED   26866982
  REMARK    GeneRIF: Results show that marker rs218966 in gene PHF14 and
            rs9836027 in MAP4 significantly associated with hypertension;
            additionally, rare variants in SNUPN significantly associated with
            systolic blood pressure.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1420)
  AUTHORS   Kirli,K., Karaca,S., Dehne,H.J., Samwer,M., Pan,K.T., Lenz,C.,
            Urlaub,H. and Gorlich,D.
  TITLE     A deep proteomics perspective on CRM1-mediated nuclear export and
            nucleocytoplasmic partitioning
  JOURNAL   Elife 4, e11466 (2015)
   PUBMED   26673895
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1420)
  AUTHORS   Zhao,C.L., Mahboobi,S.H., Moussavi-Baygi,R. and Mofrad,M.R.
  TITLE     The interaction of CRM1 and the nuclear pore protein Tpr
  JOURNAL   PLoS One 9 (4), e93709 (2014)
   PUBMED   24722547
  REMARK    GeneRIF: analysis of interactions between CRM1 and the nuclear pore
            protein Tpr and snurportin
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1420)
  AUTHORS   Dolker,N., Blanchet,C.E., Voss,B., Haselbach,D., Kappel,C.,
            Monecke,T., Svergun,D.I., Stark,H., Ficner,R., Zachariae,U.,
            Grubmuller,H. and Dickmanns,A.
  TITLE     Structural determinants and mechanism of mammalian CRM1 allostery
  JOURNAL   Structure 21 (8), 1350-1360 (2013)
   PUBMED   23850451
REFERENCE   6  (bases 1 to 1420)
  AUTHORS   Yong,J., Wan,L. and Dreyfuss,G.
  TITLE     Why do cells need an assembly machine for RNA-protein complexes?
  JOURNAL   Trends Cell Biol 14 (5), 226-232 (2004)
   PUBMED   15130578
  REMARK    Review article
REFERENCE   7  (bases 1 to 1420)
  AUTHORS   Narayanan,U., Ospina,J.K., Frey,M.R., Hebert,M.D. and Matera,A.G.
  TITLE     SMN, the spinal muscular atrophy protein, forms a pre-import snRNP
            complex with snurportin1 and importin beta
  JOURNAL   Hum Mol Genet 11 (15), 1785-1795 (2002)
   PUBMED   12095920
  REMARK    GeneRIF: SPN construct lacking the importin beta binding domain
            (IBB) localizes primarily to the nucleus rather than to the
            cytoplasm.
REFERENCE   8  (bases 1 to 1420)
  AUTHORS   Sleeman,J.E. and Lamond,A.I.
  TITLE     Newly assembled snRNPs associate with coiled bodies before
            speckles, suggesting a nuclear snRNP maturation pathway
  JOURNAL   Curr Biol 9 (19), 1065-1074 (1999)
   PUBMED   10531003
REFERENCE   9  (bases 1 to 1420)
  AUTHORS   Paraskeva,E., Izaurralde,E., Bischoff,F.R., Huber,J., Kutay,U.,
            Hartmann,E., Luhrmann,R. and Gorlich,D.
  TITLE     CRM1-mediated recycling of snurportin 1 to the cytoplasm
  JOURNAL   J Cell Biol 145 (2), 255-264 (1999)
   PUBMED   10209022
REFERENCE   10 (bases 1 to 1420)
  AUTHORS   Huber,J., Cronshagen,U., Kadokura,M., Marshallsay,C., Wada,T.,
            Sekine,M. and Luhrmann,R.
  TITLE     Snurportin1, an m3G-cap-specific nuclear import receptor with a
            novel domain structure
  JOURNAL   EMBO J 17 (14), 4114-4126 (1998)
   PUBMED   9670026
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC004203.2.
            
            On May 17, 2019 this sequence version replaced NM_005701.3.
            
            Summary: The nuclear import of the spliceosomal snRNPs U1, U2, U4
            and U5, is dependent on the presence of a complex nuclear
            localization signal. The latter is composed of the
            5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U
            snRNA and the Sm core domain. The protein encoded by this gene
            interacts specifically with m3G-cap and functions as an
            snRNP-specific nuclear import receptor. Alternatively spliced
            transcript variants encoding the same protein have been identified
            for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2 and 3 encode the same protein.
            
            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 :: SRR1660803.330177.1,
                                           SRR7346977.494009.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308588.10/ ENSP00000309831.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1420              BC004203.2         12-1431
FEATURES             Location/Qualifiers
     source          1..1420
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.2"
     gene            1..1420
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /note="snurportin 1"
                     /db_xref="GeneID:10073"
                     /db_xref="HGNC:HGNC:14245"
                     /db_xref="MIM:607902"
     exon            1..60
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /inference="alignment:Splign:2.1.0"
     exon            61..223
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1148
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /note="RNA U transporter 1"
                     /codon_start=1
                     /product="snurportin-1"
                     /protein_id="NP_005692.1"
                     /db_xref="CCDS:CCDS10281.1"
                     /db_xref="GeneID:10073"
                     /db_xref="HGNC:HGNC:14245"
                     /db_xref="MIM:607902"
                     /translation="MEELSQALASSFSVSQDLNSTAAPHPRLSQYKSKYSSLEQSERR
                     RRLLELQKSKRLDYVNHARRLAEDDWTGMESEEENKKDDEEMDIDTVKKLPKHYANQL
                     MLSEWLIDVPSDLGQEWIVVVCPVGKRALIVASRGSTSAYTKSGYCVNRFSSLLPGGN
                     RRNSTAKDYTILDCIYNEVNQTYYVLDVMCWRGHPFYDCQTDFRFYWMHSKLPEEEGL
                     GEKTKLNPFKFVGLKNFPCTPESLCDVLSMDFPFEVDGLLFYHKQTHYSPGSTPLVGW
                     LRPYMVSDVLGVAVPAGPLTTKPDYAGHQLQQIMEHKKSQKEGMKEKLTHKASENGHY
                     ELEHLSTPKLKGSSHSPDHPGCLMEN"
     exon            224..368
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /inference="alignment:Splign:2.1.0"
     exon            369..473
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /inference="alignment:Splign:2.1.0"
     exon            474..567
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /inference="alignment:Splign:2.1.0"
     exon            568..665
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /inference="alignment:Splign:2.1.0"
     exon            666..743
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /inference="alignment:Splign:2.1.0"
     exon            744..824
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /inference="alignment:Splign:2.1.0"
     exon            825..1420
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1399..1404
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /note="hexamer: AATATA"
     polyA_site      1420
                     /gene="SNUPN"
                     /gene_synonym="KPNBL; LGMDR29; RNUT1; Snurportin1"
                     /note="major polyA site"
ORIGIN      
        1 agggcaggtg attcgtcggc cccggtggcg gcggcgcgtg cgacggtcac ctcggtttgg
       61 ggaagatgga agagttgagt caggccctgg ctagtagctt ttctgtgtct caagatctga
      121 acagcacagc tgccccacac ccccgcctat cccagtacaa gtccaagtac agttccttgg
      181 agcagagtga gcgccgccgg aggttactgg aactgcagaa atccaagcgg ctggattatg
      241 tgaaccatgc cagaagactg gctgaagatg actggacagg gatggagagt gaggaagaaa
      301 ataagaaaga tgatgaagaa atggacattg acactgtcaa gaagttacca aaacactatg
      361 ctaatcaatt gatgctttct gagtggttaa ttgacgttcc ttcagatttg gggcaggaat
      421 ggattgtggt cgtgtgccct gttggaaaaa gagcccttat cgtggcctcc aggggttcta
      481 ccagtgccta caccaagagt ggctactgtg tcaacaggtt ttcttcactt ctgccaggag
      541 gcaacaggcg aaactcaaca gcaaaagact acaccattct agattgcatt tacaatgagg
      601 taaaccagac ctactacgtt ctggatgtga tgtgctggcg gggacaccct ttttatgatt
      661 gccagactga tttccgattc tactggatgc attcaaagtt accagaagaa gaaggactgg
      721 gagagaaaac caagcttaat ccttttaaat ttgtggggct aaagaacttc ccttgcactc
      781 ccgaaagcct gtgtgatgtg ctatctatgg atttcccttt tgaggtagat ggacttctct
      841 tctaccacaa acagacccac tacagccccg gaagcactcc cttggtgggc tggctgcgcc
      901 cctacatggt gtcagatgtc cttggtgtag ctgtgccggc tggcccgctg accaccaagc
      961 cagactatgc tgggcaccag ctccagcaga ttatggagca caagaagagc cagaaggaag
     1021 gcatgaagga gaaactcaca cacaaggcct ctgagaatgg gcactatgaa ttggagcacc
     1081 tgtctactcc caagttgaag ggttcttccc atagcccaga ccaccctgga tgcctcatgg
     1141 agaattaaag agagaagcct ccttaaggag ccacaggatg gtacctggcc ccaaaaggaa
     1201 tcctggagag gaggacagtg acaacaggtg acttcattct ttagagtgaa ctttccaaac
     1261 ccagtccagc tggaaacagc ttatctataa tctgaaatgc tggctcaaac agttatgggg
     1321 aggttcccag attgcgtagc attcagattg atttgagcag ctcctactgt gataagtgta
     1381 tcccagatcc acaatgtaaa tatatgtgat ttgtaagaaa
//
