LOCUS       NM_018474               2102 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens kizuna centrosomal protein (KIZ), transcript variant
            1, mRNA.
ACCESSION   NM_018474
VERSION     NM_018474.6
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 2102)
  AUTHORS   Sundaresan,Y., Rivera,A., Obolensky,A., Gopalakrishnan,P., Ohayon
            Hadad,H., Shemesh,A., Khateb,S., Ross,M., Ofri,R., Durst,S.,
            Newman,H., Leibu,R., Soudry,S., Zur,D., Ben-Yosef,T., Banin,E. and
            Sharon,D.
  TITLE     Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting
            in a Dual Mutational Mechanism
  JOURNAL   Genes (Basel) 15 (6), 804 (2024)
   PUBMED   38927740
  REMARK    GeneRIF: Genetic and Clinical Analyses of the KIZ-c.226C>T Variant
            Resulting in a Dual Mutational Mechanism.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2102)
  AUTHORS   Li,W., Yang,D., Zhang,Y., Zhao,S., Li,D. and Liu,M.
  TITLE     Long non-coding RNA PLK1S1 was associated with renal cell carcinoma
            progression by interacting with microRNA-653 and altering C-X-C
            chemokine receptor 5 expression
  JOURNAL   Oncol Rep 44 (5), 1985-1996 (2020)
   PUBMED   33000253
  REMARK    GeneRIF: Long noncoding RNA PLK1S1 was associated with renal cell
            carcinoma progression by interacting with microRNA653 and altering
            CXC chemokine receptor 5 expression.
REFERENCE   3  (bases 1 to 2102)
  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   4  (bases 1 to 2102)
  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 2102)
  AUTHORS   Lin,Y., Xu,C.L., Breazzano,M.P., Tanaka,A.J., Ryu,J., Levi,S.R.,
            Yao,K., Sparrow,J.R. and Tsang,S.H.
  TITLE     Progressive RPE atrophy and photoreceptor death in KIZ-associated
            autosomal recessive retinitis pigmentosa
  JOURNAL   Ophthalmic Genet 41 (1), 26-30 (2020)
   PUBMED   32052671
  REMARK    GeneRIF: Progressive RPE atrophy and photoreceptor death in
            KIZ-associated autosomal recessive retinitis pigmentosa.
REFERENCE   6  (bases 1 to 2102)
  AUTHORS   Chung,S.A., Brown,E.E., Williams,A.H., Ramos,P.S., Berthier,C.C.,
            Bhangale,T., Alarcon-Riquelme,M.E., Behrens,T.W., Criswell,L.A.,
            Graham,D.C., Demirci,F.Y., Edberg,J.C., Gaffney,P.M., Harley,J.B.,
            Jacob,C.O., Kamboh,M.I., Kelly,J.A., Manzi,S., Moser-Sivils,K.L.,
            Russell,L.P., Petri,M., Tsao,B.P., Vyse,T.J., Zidovetzki,R.,
            Kretzler,M., Kimberly,R.P., Freedman,B.I., Graham,R.R. and
            Langefeld,C.D.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
  TITLE     Lupus nephritis susceptibility loci in women with systemic lupus
            erythematosus
  JOURNAL   J Am Soc Nephrol 25 (12), 2859-2870 (2014)
   PUBMED   24925725
REFERENCE   7  (bases 1 to 2102)
  AUTHORS   El Shamieh,S., Neuille,M., Terray,A., Orhan,E., Condroyer,C.,
            Demontant,V., Michiels,C., Antonio,A., Boyard,F., Lancelot,M.E.,
            Letexier,M., Saraiva,J.P., Leveillard,T., Mohand-Said,S.,
            Goureau,O., Sahel,J.A., Zeitz,C. and Audo,I.
  TITLE     Whole-exome sequencing identifies KIZ as a ciliary gene associated
            with autosomal-recessive rod-cone dystrophy
  JOURNAL   Am J Hum Genet 94 (4), 625-633 (2014)
   PUBMED   24680887
  REMARK    GeneRIF: Immunohistology revealed KIZ localization at the basal
            body of the cilia in human fibroblasts, thus shedding light on
            another ciliary protein implicated in autosomal-recessive RCD
REFERENCE   8  (bases 1 to 2102)
  AUTHORS   Oshimori,N., Li,X., Ohsugi,M. and Yamamoto,T.
  TITLE     Cep72 regulates the localization of key centrosomal proteins and
            proper bipolar spindle formation
  JOURNAL   EMBO J 28 (14), 2066-2076 (2009)
   PUBMED   19536135
REFERENCE   9  (bases 1 to 2102)
  AUTHORS   Oshimori,N., Ohsugi,M. and Yamamoto,T.
  TITLE     The Plk1 target Kizuna stabilizes mitotic centrosomes to ensure
            spindle bipolarity
  JOURNAL   Nat Cell Biol 8 (10), 1095-1101 (2006)
   PUBMED   16980960
REFERENCE   10 (bases 1 to 2102)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC105093.1, AK293166.1 and
            BC090879.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018474.5.
            
            Summary: The protein encoded by this gene localizes to centrosomes,
            strengthening and stabilizing the pericentriolar region prior to
            spindle formation. The encoded protein usually remains with the
            mother centrosome after centrosomal duplication. Sevral transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Feb 2013].
            
            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 :: AK025476.1, SRR3476690.827099.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000619189.5/ ENSP00000479542.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-450               BC105093.1         3-452
            451-741             AK293166.1         228-518
            742-2079            BC105093.1         744-2081
            2080-2102           BC090879.2         1584-1606
FEATURES             Location/Qualifiers
     source          1..2102
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     gene            1..2102
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /note="kizuna centrosomal protein"
                     /db_xref="GeneID:55857"
                     /db_xref="HGNC:HGNC:15865"
                     /db_xref="MIM:615757"
     exon            1..123
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..2056
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /note="isoform 1 is encoded by transcript variant 1;
                     centrosomal protein kizuna; polo-like kinase 1 substrate
                     1"
                     /codon_start=1
                     /product="centrosomal protein kizuna isoform 1"
                     /protein_id="NP_060944.3"
                     /db_xref="CCDS:CCDS74706.1"
                     /db_xref="GeneID:55857"
                     /db_xref="HGNC:HGNC:15865"
                     /db_xref="MIM:615757"
                     /translation="MSRTLASAVPLSSPDYYERLGQLQHGLRDSEKKRLDLEKKLYEY
                     NQSDTCRVKLKYVKLKNYLKEICESEKKAHTRNQEYLKRFERVQAHVVHFTTNTEKLQ
                     KLKLEYETQIKKMLCSKDSLGLKEELTDEDREKVAVHEGINSGTAMSRGLYQPATIFM
                     GRQMSAILSMRDFSTEHKSPQPTKNFSIPDPHSHRQTAQSSNVTDSCVVQTSNDTQCL
                     NKSDNIDGKASLQIGEKMPVTASVLSEEEQTHCLEIGSNTRHGKSNLSEGKKSAELNS
                     PLRERLSPENRTTDLKCDSSSGSEGEILTREHIEVEEKRASPPVSPIPVSEYCESENK
                     WSQEKHSPWEGVSDHLAHREPKSQKPFRKMQEEEEESWSTSSDLTISISEDDLILESP
                     EPQPNPGGKMEGEDGIEALKLIHAEQERVALSTEKNCILQTLSSPDSEKESSTNAPTR
                     EPGQTPDSDVPRAQVGQHVATLKEHDNSVKEEATALLRKALTEECGRRSAIHSSESSC
                     SLPSILNDNSGIKEAKPAVWLNSVPTREQEVSSGCGDKSKKENVAADIPITETEAYQL
                     LKKATLQDNTNQTENRFQKTDASVSHLSGLNIGSGAFETKTANKIASEASFSSSEGSP
                     LSRHENKKKPVINLKSNALWDESDDSNSEIEAALRPRNHNTDDSDDFYD"
     exon            124..186
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            187..349
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            350..439
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            440..1076
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1386
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..1480
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1646
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            1647..1712
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            1713..1817
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            1818..1914
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            1915..1958
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     exon            1959..2102
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2078..2083
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /note="hexamer: AATAAA"
     polyA_site      2102
                     /gene="KIZ"
                     /gene_synonym="C20orf19; HT013; Kizuna; NCRNA00153;
                     PLK1S1; RP69"
                     /note="major polyA site"
ORIGIN      
        1 agaggctgtg ctgagctggc gcagcggcag cagcatgagc cggaccctcg catcggccgt
       61 gcccctgtcg agtcccgact actacgagag gctgggccaa ctccagcacg ggctgcggga
      121 cagtgaaaag aagagattgg acctggaaaa gaaactttat gaatataatc agtctgatac
      181 atgcagagtt aagctgaaat atgtaaaact aaagaattat ctgaaggaaa tatgtgaatc
      241 tgaaaagaag gctcatactc gaaaccaaga atatttaaag cgatttgagc gtgtccaagc
      301 tcatgttgta cacttcacca caaatacaga gaagcttcaa aaactgaagc tcgaatatga
      361 gactcaaatt aagaagatgc tatgctcaaa agatagcctg ggactaaaag aggaactgac
      421 agatgaagac agagaaaagg ttgcagtgca cgaggggatt aactcaggaa cagccatgtc
      481 aagaggattg tatcaaccag caacaatctt tatgggccgc caaatgtcag ccatcttaag
      541 catgagagat ttcagtacag agcacaaatc tccccagccc acaaagaact tttcaattcc
      601 tgacccacat tcacaccgac agacagccca gagcagtaat gtgacagaca gctgtgtagt
      661 acaaactagt aatgacacac agtgcttaaa taagtctgac aacatagatg gaaaggcatc
      721 tcttcagatt ggtgagaaaa tgccagtcac agccagtgta ttgtctgagg aggaacaaac
      781 tcattgcttg gagataggaa gtaacacacg tcatggcaag agtaatttat ctgaaggcaa
      841 aaagtctgct gaactcaatt ccccgttacg ggaaagatta agtccagaga acagaaccac
      901 tgatttaaag tgtgacagtt ccagcggatc agagggagaa atactgacac gggaacatat
      961 tgaagttgag gaaaaaagag ccagcccgcc agtctctccg ataccagttt cagaatactg
     1021 tgaatctgaa aataagtggt ctcaagagaa gcattctcct tgggaaggtg tttcagatca
     1081 tcttgctcac agggaaccaa agtcacaaaa gcccttcaga aaaatgcagg aagaggagga
     1141 ggaaagttgg agcaccagca gtgaccttac catttcaata agtgaagatg atctgatttt
     1201 agagagccca gaaccacagc caaatccagg tggcaagatg gagggagaag atggaataga
     1261 ggccttaaaa ttaatccatg ctgagcaaga aagagttgcc ctatccactg aaaaaaattg
     1321 tattttgcaa accctaagct ctcctgattc agaaaaggaa tcctccacta acgcaccaac
     1381 aagagaacct ggacaaacac cagactcaga cgtaccgagg gcacaggtgg gtcagcatgt
     1441 tgccaccttg aaagaacatg ataattctgt caaagaagag gcaacagcat tattgagaaa
     1501 agcccttaca gaagagtgtg gccgtaggtc agctattcac agtagtgaat catcttgcag
     1561 cttgccatct attctgaatg acaatagtgg aataaaggaa gccaaacctg ctgtatggct
     1621 caacagtgtt cctacaaggg aacaagaagt ttcaagtggc tgtggagaca agagcaagaa
     1681 agaaaatgtg gctgcagata tcccaatcac agaaacagaa gcctatcagt tgctgaagaa
     1741 ggccaccctt caggataata caaatcaaac tgaaaacagg tttcaaaaga cagatgcttc
     1801 tgtgtcacac ttgtcaggtt tgaatattgg cagcggtgca ttcgagacaa agacagctaa
     1861 caaaattgct tcggaagcta gtttttcatc tagtgaagga agtcctttgt caaggcatga
     1921 aaacaaaaag aaacccgtga tcaatttaaa atctaatgcc ctctgggatg agtctgatga
     1981 cagtaactca gaaattgagg ctgctttacg ccccagaaac cataacaccg atgattctga
     2041 tgatttttat gactaacgtg ctgtgacatt ggtttcaaat aaagtcttta aacaaactaa
     2101 aa
//
