LOCUS       NM_001145715            1798 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens karyopherin subunit alpha 7 (KPNA7), mRNA.
ACCESSION   NM_001145715 XR_015552 XR_015714 XR_041424 XR_041425
VERSION     NM_001145715.3
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 1798)
  AUTHORS   Wang,W., Miyamoto,Y., Chen,B., Shi,J., Diao,F., Zheng,W., Li,Q.,
            Yu,L., Li,L., Xu,Y., Wu,L., Mao,X., Fu,J., Li,B., Yan,Z., Shi,R.,
            Xue,X., Mu,J., Zhang,Z., Wu,T., Zhao,L., Wang,W., Zhou,Z., Dong,J.,
            Li,Q., Jin,L., He,L., Sun,X., Lin,G., Kuang,Y., Wang,L. and Sang,Q.
  TITLE     Karyopherin alpha deficiency contributes to human preimplantation
            embryo arrest
  JOURNAL   J Clin Invest 133 (2), e159951 (2023)
   PUBMED   36647821
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1798)
  AUTHORS   Oostdyk,L.T., Wang,Z., Zang,C., Li,H., McConnell,M.J. and
            Paschal,B.M.
  TITLE     An epilepsy-associated mutation in the nuclear import receptor
            KPNA7 reduces nuclear localization signal binding
  JOURNAL   Sci Rep 10 (1), 4844 (2020)
   PUBMED   32179771
  REMARK    GeneRIF: An epilepsy-associated mutation in the nuclear import
            receptor KPNA7 reduces nuclear localization signal binding.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1798)
  AUTHORS   Oostdyk,L.T., McConnell,M.J. and Paschal,B.M.
  TITLE     Characterization of the Importin-beta binding domain in nuclear
            import receptor KPNA7
  JOURNAL   Biochem J 476 (21), 3413-3434 (2019)
   PUBMED   31642884
  REMARK    GeneRIF: KPNA7, an isoform with expression mostly limited to early
            development, can bind Importin-beta (Imp-beta) in the absence of
            NLS cargo.
REFERENCE   4  (bases 1 to 1798)
  AUTHORS   Vuorinen,E.M., Rajala,N.K., Ihalainen,T.O. and Kallioniemi,A.
  TITLE     Depletion of nuclear import protein karyopherin alpha 7 (KPNA7)
            induces mitotic defects and deformation of nuclei in cancer cells
  JOURNAL   BMC Cancer 18 (1), 325 (2018)
   PUBMED   29580221
  REMARK    GeneRIF: KPNA7 has a critical role in the regulation of mitosis
            through the proper organization of the mitotic spindle and acts in
            the maintenance of the nuclear envelope structure and nuclear
            morphology.
            Erratum:[BMC Cancer. 2019 Jan 14;19(1):57. doi:
            10.1186/s12885-018-5234-4.. PMID: 30642282]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1798)
  AUTHORS   Vuorinen,E.M., Rajala,N.K., Rauhala,H.E., Nurminen,A.T.,
            Hytonen,V.P. and Kallioniemi,A.
  TITLE     Search for KPNA7 cargo proteins in human cells reveals MVP and
            ZNF414 as novel regulators of cancer cell growth
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1863 (1), 211-219 (2017)
   PUBMED   27664836
  REMARK    GeneRIF: KPNA7 binding and nuclear transfer was validated for two
            proteins, MVP and ZNF414. MVP and ZNF414 have a key role in the
            regulation of pancreatic cancer cell growth.
REFERENCE   6  (bases 1 to 1798)
  AUTHORS   Paciorkowski,A.R., Weisenberg,J., Kelley,J.B., Spencer,A.,
            Tuttle,E., Ghoneim,D., Thio,L.L., Christian,S.L., Dobyns,W.B. and
            Paschal,B.M.
  TITLE     Autosomal recessive mutations in nuclear transport factor KPNA7 are
            associated with infantile spasms and cerebellar malformation
  JOURNAL   Eur J Hum Genet 22 (5), 587-593 (2014)
   PUBMED   24045845
  REMARK    GeneRIF: Our data show that compound heterozygous mutations in
            KPNA7 are associated with a human neurodevelopmental disease, and
            provide the first example of a human disease associated with
            mutation of a nuclear transport receptor.
REFERENCE   7  (bases 1 to 1798)
  AUTHORS   Laurila,E., Vuorinen,E., Savinainen,K., Rauhala,H. and
            Kallioniemi,A.
  TITLE     KPNA7, a nuclear transport receptor, promotes malignant properties
            of pancreatic cancer cells in vitro
  JOURNAL   Exp Cell Res 322 (1), 159-167 (2014)
   PUBMED   24275456
  REMARK    GeneRIF: KPNA7 silencing inhibits the malignant properties of
            pancreatic cancer cells in vitro and thereby provide the first
            evidence on the functional role for KPNA7 in human cancer.
REFERENCE   8  (bases 1 to 1798)
  AUTHORS   Pawlowski,R., Rajakyla,E.K., Vartiainen,M.K. and Treisman,R.
  TITLE     An actin-regulated importin alpha/beta-dependent extended bipartite
            NLS directs nuclear import of MRTF-A
  JOURNAL   EMBO J 29 (20), 3448-3458 (2010)
   PUBMED   20818336
REFERENCE   9  (bases 1 to 1798)
  AUTHORS   Kelley,J.B., Talley,A.M., Spencer,A., Gioeli,D. and Paschal,B.M.
  TITLE     Karyopherin alpha7 (KPNA7), a divergent member of the importin
            alpha family of nuclear import receptors
  JOURNAL   BMC Cell Biol 11, 63 (2010)
   PUBMED   20701745
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 1798)
  AUTHORS   Franke,A., Balschun,T., Sina,C., Ellinghaus,D., Hasler,R., Mayr,G.,
            Albrecht,M., Wittig,M., Buchert,E., Nikolaus,S., Gieger,C.,
            Wichmann,H.E., Sventoraityte,J., Kupcinskas,L., Onnie,C.M.,
            Gazouli,M., Anagnou,N.P., Strachan,D., McArdle,W.L., Mathew,C.G.,
            Rutgeerts,P., Vermeire,S., Vatn,M.H., Krawczak,M., Rosenstiel,P.,
            Karlsen,T.H. and Schreiber,S.
  CONSRTM   IBSEN study group
  TITLE     Genome-wide association study for ulcerative colitis identifies
            risk loci at 7q22 and 22q13 (IL17REL)
  JOURNAL   Nat Genet 42 (4), 292-294 (2010)
   PUBMED   20228798
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073468.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 30, 2020 this sequence version replaced NM_001145715.2.
            
            Summary: The transport of molecules between the nucleus and the
            cytoplasm in eukaryotic cells is mediated by the nuclear pore
            complex (NPC), which consists of 60-100 proteins. Small molecules
            (up to 70 kD) can pass through the nuclear pore by nonselective
            diffusion while larger molecules are transported by an active
            process. The protein encoded by this gene belongs to the importin
            alpha family, and is involved in nuclear protein import, but
            exhibits different nuclear localization signal binding specificity
            compared to other members of the family. A pseudogene of this gene
            has been defined on chromosome 5. [provided by RefSeq, Jul 2016].
            
            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##
            CDS exon combination :: EU126604.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1966682,
                                    SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327442.7/ ENSP00000330878.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-88                AC073468.9         115657-115744       c
            89-177              AC073468.9         115030-115118       c
            178-312             AC073468.9         110735-110869       c
            313-395             AC073468.9         103713-103795       c
            396-664             AC073468.9         102699-102967       c
            665-747             AC073468.9         100648-100730       c
            748-1011            AC073468.9         95929-96192         c
            1012-1245           AC073468.9         92558-92791         c
            1246-1428           AC073468.9         89512-89694         c
            1429-1575           AC073468.9         85549-85695         c
            1576-1798           AC073468.9         81201-81423         c
FEATURES             Location/Qualifiers
     source          1..1798
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..1798
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /note="karyopherin subunit alpha 7"
                     /db_xref="GeneID:402569"
                     /db_xref="HGNC:HGNC:21839"
                     /db_xref="MIM:614107"
     exon            1..88
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     exon            89..177
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..1662
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /note="karyopherin alpha 7"
                     /codon_start=1
                     /product="importin subunit alpha-8"
                     /protein_id="NP_001139187.1"
                     /db_xref="CCDS:CCDS47651.1"
                     /db_xref="GeneID:402569"
                     /db_xref="HGNC:HGNC:21839"
                     /db_xref="MIM:614107"
                     /translation="MPTLDAPEERRRKFKYRGKDVSLRRQQRMAVSLELRKAKKDEQT
                     LKRRNITSFCPDTPSEKTAKGVAVSLTLGEIIKGVNSSDPVLCFQATQTARKMLSQEK
                     NPPLKLVIEAGLIPRMVEFLKSSLYPCLQFEAAWALTNIASGTSEQTRAVVEGGAIQP
                     LIELLSSSNVAVCEQAVWALGNIAGDGPEFRDNVITSNAIPHLLALISPTLPITFLRN
                     ITWTLSNLCRNKNPYPCDTAVKQILPALLHLLQHQDSEVLSDACWALSYLTDGSNKRI
                     GQVVNTGVLPRLVVLMTSSELNVLTPSLRTVGNIVTGTDEQTQMAIDAGMLNVLPQLL
                     QHNKPSIQKEAAWALSNVAAGPCHHIQQLLAYDVLPPLVALLKNGEFKVQKEAVWMVA
                     NFATGATMDQLIQLVHSGVLEPLVNLLTAPDVKIVLIILDVISCILQAAEKRSEKENL
                     CLLIEELGGIDRIEALQLHENRQIGQSALNIIEKHFGEEEDESQTLLSQVIDQDYEFI
                     DYECLAKK"
     exon            178..312
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     exon            313..395
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     exon            396..664
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     exon            665..747
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     exon            748..1011
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1245
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1428
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1575
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1798
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1777..1782
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /note="hexamer: AATAAA"
     polyA_site      1798
                     /gene="KPNA7"
                     /gene_synonym="IPOA8; OZEMA17"
                     /note="major polyA site"
ORIGIN      
        1 gacagagtga gactctgatg ccaacaagca ggtcttgcag aaataggaca tggagctgag
       61 aagtccagac tgttgttctt gctgccaggt aacttactac ttccagtcaa tatgccgacc
      121 ttagatgctc cagaagagag gcggagaaaa tttaagtacc gaggcaaaga tgtgtctctg
      181 aggcgacagc agaggatggc ggtcagtctg gagctccgaa aggccaagaa agatgaacag
      241 accttaaaga gaaggaatat cacgagcttc tgccctgaca caccttctga aaaaacagcc
      301 aaaggggtgg cggtcagcct cactctgggt gaaataatca aaggtgtgaa tagctcagat
      361 ccagtcctat gtttccaggc cacccagaca gccaggaaaa tgctatccca ggaaaagaac
      421 ccccctctga aactggtcat tgaagcgggc ctcattccca ggatggtgga gttcctgaag
      481 tcatcacttt acccctgctt gcagtttgag gctgcctggg ccctgaccaa catcgcttca
      541 gggacttcgg agcagactcg tgccgtggta gaagggggag ccatccagcc cttgattgag
      601 ctcctgtctt cctccaacgt ggctgtgtgt gaacaggcag tgtgggctct tggtaatata
      661 gccggtgatg gcccagagtt cagagataac gtcatcacaa gcaatgccat cccacatctc
      721 ctagccttga tttcacccac cctgccgatc acatttctgc ggaacatcac gtggaccttg
      781 tcgaatctgt gccgaaacaa gaacccatac ccttgcgaca ctgcggtgaa gcagatactg
      841 ccggccctcc ttcacctcct gcagcaccag gacagtgagg ttctctcgga tgcctgctgg
      901 gcactgtcct acctcaccga cggctccaac aagcgcatcg gccaagtggt taacacgggg
      961 gtcctgccca ggctggtagt gctcatgacc agctcagaac tcaatgtctt gactccttct
     1021 ctccgcaccg tggggaacat tgtcacgggc acagatgagc agacgcagat ggccattgat
     1081 gcgggtatgc tgaacgtgct cccccagctc ctgcaacaca acaagccctc catccagaag
     1141 gaggcagcct gggccctgag caacgtagca gcggggcctt gtcaccacat ccagcagctg
     1201 cttgcctacg acgtcttgcc tcccttggtg gctctgctaa aaaacggaga atttaaagtc
     1261 cagaaagagg ctgtctggat ggtggcgaac tttgcaacag gggccaccat ggatcagctg
     1321 atccagctcg tccactctgg ggtcctggag ccactggtga atctgctcac tgccccagat
     1381 gttaaaattg ttctcatcat ccttgatgtc atctcttgca tcctccaggc ggcagagaaa
     1441 cggtctgaga aggaaaacct gtgtcttctg atagaagaac ttggtgggat cgatagaatt
     1501 gaggctttac agctgcatga gaaccgtcaa attggccagt cggctttgaa catcatcgag
     1561 aagcactttg gtgaggaaga agatgagagc caaactttac tgagccaagt catagaccaa
     1621 gattatgaat ttatagatta tgaatgctta gcaaaaaaat agccaagctc cctacctcct
     1681 aaaccaacaa cccagtgcta aaggataact tctttaagaa gcagcagtcc tctatcttag
     1741 tgtaacccaa atgtgaagct tttaaaactt gacattaata aaatgttcaa cactttca
//
