LOCUS       NM_016401               1108 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens heat shock protein nuclear import factor hikeshi
            (HIKESHI), transcript variant 1, mRNA.
ACCESSION   NM_016401 NM_016411
VERSION     NM_016401.4
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 1108)
  AUTHORS   Kose,S., Yoshioka,S., Ogawa,Y., Watanabe,A. and Imamoto,N.
  TITLE     The interaction between the import carrier Hikeshi and HSP70 is
            modulated by heat, facilitating the nuclear import of HSP70 under
            heat stress conditions
  JOURNAL   Genes Cells 29 (9), 782-791 (2024)
   PUBMED   38987995
  REMARK    GeneRIF: The interaction between the import carrier Hikeshi and
            HSP70 is modulated by heat, facilitating the nuclear import of
            HSP70 under heat stress conditions.
REFERENCE   2  (bases 1 to 1108)
  AUTHORS   Helman,G., Zerem,A., Almad,A., Hacker,J.L., Woidill,S., Sase,S.,
            LeFevre,A.N., Ekstein,J., Johansson,M.M., Stutterd,C.A., Taft,R.J.,
            Simons,C., Grinspan,J.B., Pizzino,A., Schmidt,J.L., Harding,B.,
            Hirsch,Y., Viaene,A.N., Fattal-Valevski,A. and Vanderver,A.
  TITLE     Further Delineation of the Clinical and Pathologic Features of
            HIKESHI-Related Hypomyelinating Leukodystrophy
  JOURNAL   Pediatr Neurol 121, 11-19 (2021)
   PUBMED   34111619
  REMARK    GeneRIF: Further Delineation of the Clinical and Pathologic
            Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
REFERENCE   3  (bases 1 to 1108)
  AUTHORS   Tabuchi,Y., Maekawa,K., Torigoe,M., Furusawa,Y., Hirano,T.,
            Minagawa,S., Yunoki,T. and Hayashi,A.
  TITLE     HIKESHI silencing can enhance mild hyperthermia sensitivity in
            human oral squamous cell carcinoma HSC-3 cells
  JOURNAL   Int J Mol Med 46 (1), 58-66 (2020)
   PUBMED   32377716
  REMARK    GeneRIF: HIKESHI silencing can enhance mild hyperthermia
            sensitivity in human oral squamous cell carcinoma HSC3 cells.
REFERENCE   4  (bases 1 to 1108)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1108)
  AUTHORS   Christie,M., Chang,C.W., Rona,G., Smith,K.M., Stewart,A.G.,
            Takeda,A.A., Fontes,M.R., Stewart,M., Vertessy,B.G., Forwood,J.K.
            and Kobe,B.
  TITLE     Structural Biology and Regulation of Protein Import into the
            Nucleus
  JOURNAL   J Mol Biol 428 (10 Pt A), 2060-2090 (2016)
   PUBMED   26523678
  REMARK    Review article
REFERENCE   6  (bases 1 to 1108)
  AUTHORS   Edvardson,S., Kose,S., Jalas,C., Fattal-Valevski,A., Watanabe,A.,
            Ogawa,Y., Mamada,H., Fedick,A.M., Ben-Shachar,S., Treff,N.R.,
            Shaag,A., Bale,S., Gartner,J., Imamoto,N. and Elpeleg,O.
  TITLE     Leukoencephalopathy and early death associated with an
            Ashkenazi-Jewish founder mutation in the Hikeshi gene
  JOURNAL   J Med Genet 53 (2), 132-137 (2016)
   PUBMED   26545878
  REMARK    GeneRIF: Leukoencephalopathy and early death associated with an
            Ashkenazi-Jewish founder mutation in the Hikeshi gene.P.V54L
            mutation in Hikeshi is associated with absence of nuclear HSP70
            during heat shock stress.
REFERENCE   7  (bases 1 to 1108)
  AUTHORS   Song,J., Kose,S., Watanabe,A., Son,S.Y., Choi,S., Hong,H.,
            Yamashita,E., Park,I.Y., Imamoto,N. and Lee,S.J.
  TITLE     Structural and functional analysis of Hikeshi, a new nuclear
            transport receptor of Hsp70s
  JOURNAL   Acta Crystallogr D Biol Crystallogr 71 (Pt 3), 473-483 (2015)
   PUBMED   25760597
  REMARK    GeneRIF: The crystal structure of Hikeshi explains how Hikeshi
            participates in the regulation of nuclear import through the
            recognition of FG-Nups and which part of Hikeshi affects its
            binding to Hsp70.
REFERENCE   8  (bases 1 to 1108)
  AUTHORS   Song,J. and Lee,S.J.
  TITLE     Crystallization and preliminary X-ray crystallographic study of
            human Hikeshi, a new nuclear transport receptor for Hsp70
  JOURNAL   Acta Crystallogr F Struct Biol Commun 70 (Pt 12), 1646-1648 (2014)
   PUBMED   25484218
REFERENCE   9  (bases 1 to 1108)
  AUTHORS   Imamoto,N. and Kose,S.
  TITLE     Heat-shock stress activates a novel nuclear import pathway mediated
            by Hikeshi
  JOURNAL   Nucleus 3 (5), 422-428 (2012)
   PUBMED   22895094
REFERENCE   10 (bases 1 to 1108)
  AUTHORS   Kose,S., Furuta,M. and Imamoto,N.
  TITLE     Hikeshi, a nuclear import carrier for Hsp70s, protects cells from
            heat shock-induced nuclear damage
  JOURNAL   Cell 149 (3), 578-589 (2012)
   PUBMED   22541429
  REMARK    GeneRIF: identify a nuclear import pathway that operates during
            heat shock stress and is mediated by an evolutionarily conserved
            protein, Hikeshi (coded by the C11orf73 gene) binds to FG-Nups and
            translocates through nuclear pores on its own, showing
            characteristic features of nuclear transport carriers.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001148.4 and BC015991.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016401.3.
            
            Summary: This gene encodes an evolutionarily conserved nuclear
            transport receptor that mediates heat-shock-induced nuclear import
            of 70 kDa heat-shock proteins (Hsp70s) through interactions with
            FG-nucleoporins. The protein mediates transport of the ATP form but
            not the ADP form of Hsp70 proteins under conditions of heat shock
            stress. Structural analyses demonstrate that the protein forms an
            asymmetric homodimer and that the N-terminal domain consists of a
            jelly-roll/beta-sandwich fold structure that contains hydrophobic
            pockets involved in FG-nucleoporin recognition. Reduction of RNA
            expression levels in HeLa cells using small interfering RNAs
            results in inhibition of heat shock-induced nuclear accumulation of
            Hsp70s, indicating a role for this gene in regulation of Hsp70
            nuclear import during heat shock stress. [provided by RefSeq, Apr
            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##
            Transcript exon combination :: BC015991.2, SRR1660807.14657.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278483.8/ ENSP00000278483.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AP001148.4         11094-11099
            7-1108              BC015991.2         1-1102
FEATURES             Location/Qualifiers
     source          1..1108
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.2"
     gene            1..1108
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /note="heat shock protein nuclear import factor hikeshi"
                     /db_xref="GeneID:51501"
                     /db_xref="HGNC:HGNC:26938"
                     /db_xref="MIM:614908"
     exon            1..239
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /inference="alignment:Splign:2.1.0"
     CDS             210..803
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /note="isoform 1 is encoded by transcript variant 1;
                     lethal, Chr 7, Rinchik 6; protein Hikeshi; Hikeshi, heat
                     shock protein nuclear import factor"
                     /codon_start=1
                     /product="protein Hikeshi isoform 1"
                     /protein_id="NP_057485.2"
                     /db_xref="CCDS:CCDS8275.1"
                     /db_xref="GeneID:51501"
                     /db_xref="HGNC:HGNC:26938"
                     /db_xref="MIM:614908"
                     /translation="MFGCLVAGRLVQTAAQQVAEDKFVFDLPDYESINHVVVFMLGTI
                     PFPEGMGGSVYFSYPDSNGMPVWQLLGFVTNGKPSAIFKISGLKSGEGSQHPFGAMNI
                     VRTPSVAQIGISVELLDSMAQQTPVGNAAVSSVDSFTQFTQKMLDNFYNFASSFAVSQ
                     AQMTPSPSEMFIPANVVLKWYENFQRRLAQNPLFWKT"
     exon            240..477
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /inference="alignment:Splign:2.1.0"
     exon            478..629
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /inference="alignment:Splign:2.1.0"
     exon            630..748
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /inference="alignment:Splign:2.1.0"
     exon            749..1108
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      808..813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /note="hexamer: AATAAA"
     regulatory      813..818
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /note="hexamer: AATAAT"
     polyA_site      828
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /note="major polyA site"
     polyA_site      836
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
     regulatory      1074..1079
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
                     /note="hexamer: AATAAA"
     polyA_site      1108
                     /gene="HIKESHI"
                     /gene_synonym="C11orf73; HLD13; HSPC138; HSPC179; L7RN6;
                     OPI10"
ORIGIN      
        1 gttgcctgag cagtgggctg cttaggaaga gaaggtcaga gttcgcgggg gcagaggcat
       61 tcttgccgct ggcccagtca ctatgtagtg gaggggcaga caccctcccg caaattctgg
      121 aaggttctta gtctcgacta gggcagtagc cccaggactc ctagtcgccg gcttcaggtc
      181 actgccggct gaacggagct gccgtcgcca tgtttggctg cttggtggcg gggaggctgg
      241 tgcaaacagc tgcacagcaa gtggcagagg ataaatttgt ttttgactta cctgattatg
      301 aaagtatcaa ccatgttgtg gtttttatgc tgggaacaat cccatttcct gagggaatgg
      361 gaggatctgt ctacttttct tatcctgatt caaatggaat gccagtatgg caactcctag
      421 gatttgtcac gaatgggaag ccaagtgcca tcttcaaaat ttcaggtctt aaatctggag
      481 aaggaagcca acatcctttt ggagccatga atattgtccg aactccatct gttgctcaga
      541 ttggaatttc agtggaatta ttagacagta tggctcagca gactcctgta ggtaatgctg
      601 ctgtatcctc agttgactca ttcactcagt tcacacaaaa gatgttggac aatttctaca
      661 attttgcttc atcatttgct gtctctcagg cccagatgac accaagccca tctgaaatgt
      721 tcattccggc aaatgtggtt ctgaaatggt atgaaaactt tcaaagacga ctagcacaga
      781 accctctctt ttggaaaaca taatttgaat aaaataattt ttaatggatt ctgaaatttg
      841 tcatgttttg aagataactg actccatcta aaagtatgag gtcaaaggat cacgaaacct
      901 aagtttaaaa actgcttaga gactgaagct taattaaaaa tctttattaa aaattaaaaa
      961 cattgaaaaa tgaaaatatg ttcatcatta aagacttttt tccccttaag cttaaaatac
     1021 cattcaaagg caagacattt tgttttggct atgattcatt ttttttactt aaaaataaaa
     1081 cctataccaa acagtagtgt gccaagta
//
