LOCUS       NM_017975               3595 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens zwilch kinetochore protein (ZWILCH), transcript
            variant 1, mRNA.
ACCESSION   NM_017975 XM_942085
VERSION     NM_017975.5
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 3595)
  AUTHORS   Mosalaganti,S., Keller,J., Altenfeld,A., Winzker,M., Rombaut,P.,
            Saur,M., Petrovic,A., Wehenkel,A., Wohlgemuth,S., Muller,F.,
            Maffini,S., Bange,T., Herzog,F., Waldmann,H., Raunser,S. and
            Musacchio,A.
  TITLE     Structure of the RZZ complex and molecular basis of its interaction
            with Spindly
  JOURNAL   J Cell Biol 216 (4), 961-981 (2017)
   PUBMED   28320825
REFERENCE   2  (bases 1 to 3595)
  AUTHORS   Altenfeld,A., Wohlgemuth,S., Wehenkel,A., Vetter,I.R. and
            Musacchio,A.
  TITLE     Complex assembly, crystallization and preliminary X-ray
            crystallographic analysis of the human Rod-Zwilch-ZW10 (RZZ)
            complex
  JOURNAL   Acta Crystallogr F Struct Biol Commun 71 (Pt 4), 438-442 (2015)
   PUBMED   25849506
REFERENCE   3  (bases 1 to 3595)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 3595)
  AUTHORS   Civril,F., Wehenkel,A., Giorgi,F.M., Santaguida,S., Di Fonzo,A.,
            Grigorean,G., Ciccarelli,F.D. and Musacchio,A.
  TITLE     Structural analysis of the RZZ complex reveals common ancestry with
            multisubunit vesicle tethering machinery
  JOURNAL   Structure 18 (5), 616-626 (2010)
   PUBMED   20462495
REFERENCE   5  (bases 1 to 3595)
  AUTHORS   Brendle,A., Brandt,A., Johansson,R., Enquist,K., Hallmans,G.,
            Hemminki,K., Lenner,P. and Forsti,A.
  TITLE     Single nucleotide polymorphisms in chromosomal instability genes
            and risk and clinical outcome of breast cancer: a Swedish
            prospective case-control study
  JOURNAL   Eur J Cancer 45 (3), 435-442 (2009)
   PUBMED   19008095
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3595)
  AUTHORS   Kops,G.J., Kim,Y., Weaver,B.A., Mao,Y., McLeod,I., Yates,J.R. 3rd,
            Tagaya,M. and Cleveland,D.W.
  TITLE     ZW10 links mitotic checkpoint signaling to the structural
            kinetochore
  JOURNAL   J Cell Biol 169 (1), 49-60 (2005)
   PUBMED   15824131
REFERENCE   7  (bases 1 to 3595)
  AUTHORS   Williams,B.C., Li,Z., Liu,S., Williams,E.V., Leung,G., Yen,T.J. and
            Goldberg,M.L.
  TITLE     Zwilch, a new component of the ZW10/ROD complex required for
            kinetochore functions
  JOURNAL   Mol Biol Cell 14 (4), 1379-1391 (2003)
   PUBMED   12686595
  REMARK    GeneRIF: Other name: HZwilch. Homologue of Drosophila Zwilch
            (CG18729).  Localizes to the kinetochore during prometaphase and
            metaphase of HeLa cells. Complexed with human ROD and human ZW10,
            similar to situation in Drosophila.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC116913.6, BC036900.1 and BQ775697.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017975.4.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.124908.1,
                                           SRR1660805.71996.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307897.10/ ENSP00000311429.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                AC116913.6         75994-76015
            23-2111             BC036900.1         12-2100
            2112-2339           AC116913.6         119315-119542
            2340-2950           BQ775697.1         12-622              c
            2951-3595           AC116913.6         120154-120798
FEATURES             Location/Qualifiers
     source          1..3595
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..3595
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /note="zwilch kinetochore protein"
                     /db_xref="GeneID:55055"
                     /db_xref="HGNC:HGNC:25468"
                     /db_xref="MIM:609984"
     exon            1..66
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..1789
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homolog of Drosophila Zwilch; protein zwilch homolog;
                     Zwilch, kinetochore associated, homolog"
                     /codon_start=1
                     /product="protein zwilch homolog isoform 1"
                     /protein_id="NP_060445.3"
                     /db_xref="CCDS:CCDS10219.1"
                     /db_xref="GeneID:55055"
                     /db_xref="HGNC:HGNC:25468"
                     /db_xref="MIM:609984"
                     /translation="MWERLNCAAEDFYSRLLQKFNEEKKGIRKDPFLYEADVQVQLIS
                     KGQPNPLKNILNENDIVFIVEKVPLEKEETSHIEELQSEETAISDFSTGENVGPLALP
                     VGKARQLIGLYTMAHNPNMTHLKINLPVTALPPLWVRCDSSDPEGTCWLGAELITTNN
                     SITGIVLYVVSCKADKNYSVNLENLKNLHKKRHHLSTVTSKGFAQYELFKSSALDDTI
                     TASQTAIALDISWSPVDEILQIPPLSSTATLNIKVESGEPRGPLNHLYRELKFLLVLA
                     DGLRTGVTEWLEPLEAKSAVELVQEFLNDLNKLDGFGDSTKKDTEVETLKHDTAAVDR
                     SVKRLFKVRSDLDFAEQLWCKMSSSVISYQDLVKCFTLIIQSLQRGDIQPWLHSGSNS
                     LLSKLIHQSYHGTMDTVSLSGTIPVQMLLEIGLDKLKKDYISFFIGQELASLNHLEYF
                     IAPSVDIQEQVYRVQKLHHILEILVSCMPFIKSQHELLFSLTQICIKYYKQNPLDEQH
                     IFQLPVRPTAVKNLYQSEKPQKWRVEIYSGQKKIKTVWQLSDSSPIDHLNFHKPDFSE
                     LTLNGSLEERIFFTNMVTCSQVHFK"
     exon            67..118
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            119..214
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            215..333
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            334..533
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            534..604
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            605..760
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            761..832
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            833..926
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            927..982
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1088
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1168
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1325
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1326..1354
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..1491
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1492..1587
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1588..1700
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1701..1815
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..3595
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2930..2935
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /note="hexamer: GATAAA"
     polyA_site      2950
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /note="major polyA site"
     regulatory      3572..3577
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
                     /note="hexamer: AATAAA"
     polyA_site      3595
                     /gene="ZWILCH"
                     /gene_synonym="hZwilch; KNTC1AP"
ORIGIN      
        1 acattggggc gggatgtggg agcggctgaa ctgcgcagca gaggactttt attctcgtct
       61 ccttcagaaa tttaatgaag aaaagaaagg aatccgtaaa gacccatttc tctatgaggc
      121 tgatgtccaa gtgcagttga tcagcaaagg ccaaccaaac cctttgaaaa atattctaaa
      181 tgaaaatgac atagtattca tagtggaaaa agtgccttta gaaaaggaag aaacaagtca
      241 tattgaagaa cttcaatctg aagaaactgc catatctgat ttctctactg gcgaaaatgt
      301 tggaccactt gctttaccag ttgggaaggc aaggcagtta attggacttt acaccatggc
      361 tcacaatcct aatatgaccc atttgaagat taatctgcca gttactgccc ttcctcccct
      421 ttgggtaaga tgtgacagtt cagatcctga aggtacttgt tggctaggag ctgagcttat
      481 cacaacaaac aacagcatta caggaattgt cttatatgtg gtcagttgta aagctgataa
      541 aaattattct gtaaatcttg aaaacctaaa aaatttacac aagaaaagac atcacttgtc
      601 tactgtaaca tccaaaggct ttgcccagta tgagctcttt aagtcctctg ccttggatga
      661 tacaatcaca gcatcacaaa ctgcgatcgc tttggatatt tcctggagtc ctgtggatga
      721 gattcttcaa atccctccac tctcttcaac tgcaactctg aatattaaag tggaatcagg
      781 agagcccaga ggtcctttga atcatctcta cagagaactg aaatttcttc ttgttttggc
      841 tgatggtttg aggactggtg tcactgaatg gctcgagccc ctggaagcaa aatctgctgt
      901 tgaacttgtt caggaatttc tgaatgactt aaataagctg gatggatttg gtgattctac
      961 aaaaaaagac actgaggttg agaccttgaa gcatgacact gctgcagtcg atcgttccgt
     1021 caagcgtctt ttcaaagttc ggagtgatct tgattttgct gagcaactgt ggtgcaaaat
     1081 gagcagtagt gtgatttcat accaagactt ggtgaagtgt ttcacattga tcatccagag
     1141 tctacaacgt ggtgatatac agccatggct ccatagtgga agtaacagtt tactaagtaa
     1201 gctcattcat cagtcttatc atggaaccat ggacacagtt tctctcagtg ggactattcc
     1261 agttcaaatg cttttggaaa ttggtttgga caaactaaag aaagattata tcagtttttt
     1321 cataggtcag gaacttgcat ctttgaatca tttggaatac ttcattgctc catcagtaga
     1381 tatacaagaa caggtttatc gtgtccaaaa actccaccat attctagaaa tattagtcag
     1441 ttgcatgcct ttcattaaat ctcaacatga actcctcttt tctttaacac agatctgcat
     1501 aaagtattac aaacaaaatc ctcttgatga gcaacacatt tttcagctgc cagtcagacc
     1561 aactgctgta aagaacttat atcaaagtga gaagccacag aaatggagag tggaaatata
     1621 tagtggtcaa aagaagatta agacagtttg gcaactgagt gacagctcac ccatagacca
     1681 tctgaatttt cacaaacctg atttttcgga attaacacta aacggtagcc tggaagaaag
     1741 gatattcttt actaacatgg ttacctgcag ccaggtgcat ttcaagtgaa gtgtgctgat
     1801 gaagtcctct ataagcacaa gccaaaaaga gaaagagaaa aaaaggtaat tattgtagaa
     1861 cctgaaaaca gcaatgtatg gaaaccctca aagcagaaaa gggaggaaga tcctgaagat
     1921 tctcttatga agctccaaaa ttgataatcc tgtctcagct ctgcctcctc aggaggagca
     1981 ttagtagaac agcagtgatg aggacacaga gggagcagac agtgggtacc acgatctccg
     2041 taaccatttg catgtgactt agcaagggct ctgaaatgac aaagagaacg agcaccacaa
     2101 atgagaacag gatcatttta gtaaatacag ctttatccca aaagctttaa ctgtattggg
     2161 aaaacttaaa aaatagcatc ctcaaatttt ctgattctta tttgccatga aatagaactt
     2221 agtaaattaa atgttatttg aaaatgttat aagagctttg taaatatttc agaaaatatg
     2281 ggataaatgc ctgaatttgg ttcttctaca ggtgctataa taaagtccat ctctcaatac
     2341 ttatactttc taaattcatc tcagaatatt agcagccata ttccacagtt cctataattt
     2401 ttactggggg ggatttgtga taggaaagtc cttgggaaac atttccaatc tttcaaaata
     2461 ttattgtgta tcttaagaag tataggaact tgtatgttga aatgttgtat ggtagttctt
     2521 gtatagttaa ataataatct ttttaagagt taatgataag catatgttat gtgcattatt
     2581 aataaaatag tggccactta ggtaataccc acttttatct tgtgtgctgg gtactctggt
     2641 tactgagata aataaggcac tggacatcct cacgtggagt tcacaggctc atcagtgaat
     2701 tctgtaccac atttcaacct tgtttatttt agtttaatgg aatatacatt cttagtattg
     2761 cctgattatt taaatttgtt gagggggatt gcatgttgct ttattggcct gtaaaaatag
     2821 ctagtttggt aagatttggt ctcgcacctt ccatctttgc taccacatta aagatgagct
     2881 tgttaaaaag gaaagcatat ttctctgatt gcccttatgg agaaataaag ataaaattca
     2941 aagaaacaaa taatatgtgt tggcatttct tgatgcatag ttgcatcttt gttattcgac
     3001 atctctgatc cttttagacc ccattacata ggaaatgatg tcttctatga agacagggac
     3061 cttgttttgt tcctggctat atctcatgac ttaaacattc cctggcaaat agtgagtgct
     3121 taataattgc ttgccgaatg aacaaatata agatctcaag tattcttttt tccttcatcc
     3181 cagttggtat agtggttggc ttttcctctc cttgcccaag cccactataa caaaaatagt
     3241 aggtatataa atttataggt atgattctga aagaataaaa cttgaatgga taaaatggat
     3301 aaaatgttta tctttcatgg tagattaaat gctttaaaat gcttataaat agaaatttga
     3361 cattgcttca aagaaacctg attttaatca taagtagttt tggaagattg acttcaagta
     3421 gagccacatt ttgagatttt gaaaatgata tgtataatta tttagtttaa ttattaaagg
     3481 aaaacattga aatatactga ctcacctgca gcaagcatct gattgttgat agagcaagtt
     3541 tccaaagctt tgaggtacca actttccacc taataaaaac ccacttgata agtaa
//
