LOCUS       NM_001329643            2606 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens spindle apparatus coiled-coil protein 1 (SPDL1),
            transcript variant 6, mRNA.
ACCESSION   NM_001329643 XM_017009602
VERSION     NM_001329643.2
KEYWORDS    RefSeq.
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 2606)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2606)
  AUTHORS   Dhindsa,R.S., Mattsson,J., Nag,A., Wang,Q., Wain,L.V., Allen,R.,
            Wigmore,E.M., Ibanez,K., Vitsios,D., Deevi,S.V.V., Wasilewski,S.,
            Karlsson,M., Lassi,G., Olsson,H., Muthas,D., Monkley,S., Mackay,A.,
            Murray,L., Young,S., Haefliger,C., Maher,T.M., Belvisi,M.G.,
            Jenkins,G., Molyneaux,P.L., Platt,A. and Petrovski,S.
  CONSRTM   FinnGen Consortium
  TITLE     Identification of a missense variant in SPDL1 associated with
            idiopathic pulmonary fibrosis
  JOURNAL   Commun Biol 4 (1), 392 (2021)
   PUBMED   33758299
  REMARK    GeneRIF: Identification of a missense variant in SPDL1 associated
            with idiopathic pulmonary fibrosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2606)
  AUTHORS   Zheng,J., Li,T.K., Bao,Y. and Zhang,S.X.
  TITLE     [Expression and clinical significance of Spindly and Bub3 in oral
            squamous cell carcinoma]
  JOURNAL   Shanghai Kou Qiang Yi Xue 29 (5), 528-532 (2020)
   PUBMED   33543222
  REMARK    GeneRIF: [Expression and clinical significance of Spindly and Bub3
            in oral squamous cell carcinoma].
REFERENCE   4  (bases 1 to 2606)
  AUTHORS   Kodama,T., Marian,T.A., Lee,H., Kodama,M., Li,J., Parmacek,M.S.,
            Jenkins,N.A., Copeland,N.G. and Wei,Z.
  TITLE     MRTFB suppresses colorectal cancer development through regulating
            SPDL1 and MCAM
  JOURNAL   Proc Natl Acad Sci U S A 116 (47), 23625-23635 (2019)
   PUBMED   31690663
  REMARK    GeneRIF: SPDL1 knockdown in human CRC cells significantly increased
            invasion and migration of tumor cells.  Lower SPDL1 expression
            levels are significantly associated with reduced survival in CRC
            patients. SPDL1 depletion in human CRC cells significantly
            increases tumor development in xenograft assays. SPDL1 is a human
            CRC tumor-suppressor genes that acts downstream of MRTFB to
            regulate CRC growth and survival.
REFERENCE   5  (bases 1 to 2606)
  AUTHORS   Holland,A.J., Reis,R.M., Niessen,S., Pereira,C., Andres,D.A.,
            Spielmann,H.P., Cleveland,D.W., Desai,A. and Gassmann,R.
  TITLE     Preventing farnesylation of the dynein adaptor Spindly contributes
            to the mitotic defects caused by farnesyltransferase inhibitors
  JOURNAL   Mol Biol Cell 26 (10), 1845-1856 (2015)
   PUBMED   25808490
  REMARK    GeneRIF: Farnesylation of Spindly is essential for its
            localization, & thus for proper localization of dynein & dynactin,
            to prometaphase kinetochores. Both Spindly and CENP-E farnesylation
            are required for efficient chromosome congression
REFERENCE   6  (bases 1 to 2606)
  AUTHORS   Moudgil,D.K., Westcott,N., Famulski,J.K., Patel,K., Macdonald,D.,
            Hang,H. and Chan,G.K.
  TITLE     A novel role of farnesylation in targeting a mitotic checkpoint
            protein, human Spindly, to kinetochores
  JOURNAL   J Cell Biol 208 (7), 881-896 (2015)
   PUBMED   25825516
  REMARK    GeneRIF: hSpindly is farnesylated in vivo and farnesylation is
            essential for its interaction with the RZZ complex and hence
            Kinetochore localization.
REFERENCE   7  (bases 1 to 2606)
  AUTHORS   Armour,S.M., Bennett,E.J., Braun,C.R., Zhang,X.Y., McMahon,S.B.,
            Gygi,S.P., Harper,J.W. and Sinclair,D.A.
  TITLE     A high-confidence interaction map identifies SIRT1 as a mediator of
            acetylation of USP22 and the SAGA coactivator complex
  JOURNAL   Mol Cell Biol 33 (8), 1487-1502 (2013)
   PUBMED   23382074
REFERENCE   8  (bases 1 to 2606)
  AUTHORS   Barisic,M., Sohm,B., Mikolcevic,P., Wandke,C., Rauch,V., Ringer,T.,
            Hess,M., Bonn,G. and Geley,S.
  TITLE     Spindly/CCDC99 is required for efficient chromosome congression and
            mitotic checkpoint regulation
  JOURNAL   Mol Biol Cell 21 (12), 1968-1981 (2010)
   PUBMED   20427577
  REMARK    GeneRIF: Spindly is not only required for kinetochore localization
            of dynein but is a functional component of a mechanism that couples
            dynein-dependent poleward movement of chromosomes to their
            efficient attachment to microtubules.
REFERENCE   9  (bases 1 to 2606)
  AUTHORS   Gassmann,R., Holland,A.J., Varma,D., Wan,X., Civril,F.,
            Cleveland,D.W., Oegema,K., Salmon,E.D. and Desai,A.
  TITLE     Removal of Spindly from microtubule-attached kinetochores controls
            spindle checkpoint silencing in human cells
  JOURNAL   Genes Dev 24 (9), 957-971 (2010)
   PUBMED   20439434
  REMARK    GeneRIF: dynein-mediated removal of Spindly from
            microtubule-attached kinetochores, rather than poleward transport
            per se, is the critical reaction in checkpoint silencing
REFERENCE   10 (bases 1 to 2606)
  AUTHORS   Chan,Y.W., Fava,L.L., Uldschmid,A., Schmitz,M.H., Gerlich,D.W.,
            Nigg,E.A. and Santamaria,A.
  TITLE     Mitotic control of kinetochore-associated dynein and spindle
            orientation by human Spindly
  JOURNAL   J Cell Biol 185 (5), 859-874 (2009)
   PUBMED   19468067
  REMARK    GeneRIF: [hSpindly] Localization of human Spindly (hSpindly) to
            kinetochores is controlled by the Rod/Zw10/Zwilch (RZZ) complex and
            Aurora B.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008680.5 and BU616897.1.
            
            On May 31, 2019 this sequence version replaced NM_001329643.1.
            
            Summary: This gene encodes a coiled-coil domain-containing protein
            that functions in mitotic spindle formation and chromosome
            segregation. The encoded protein plays a role in coordinating
            microtubule attachment by promoting recruitment of dynein proteins,
            and in mitotic checkpoint signaling. [provided by RefSeq, Jul
            2016].
            
            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.
            
            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 :: SRR1803612.214818.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-117               AC008680.5         194093-194209       c
            118-299             AC008680.5         189407-189588       c
            300-376             AC008680.5         187153-187229       c
            377-553             AC008680.5         186758-186934       c
            554-748             AC008680.5         184434-184628       c
            749-898             AC008680.5         183688-183837       c
            899-997             AC008680.5         183490-183588       c
            998-1108            AC008680.5         183301-183411       c
            1109-1249           AC008680.5         181281-181421       c
            1250-1353           AC008680.5         179403-179506       c
            1354-1541           AC008680.5         178823-179010       c
            1542-1887           AC008680.5         176357-176702       c
            1888-2501           AC008680.5         173309-173922       c
            2502-2606           BU616897.1         16-120              c
FEATURES             Location/Qualifiers
     source          1..2606
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..2606
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /note="spindle apparatus coiled-coil protein 1"
                     /db_xref="GeneID:54908"
                     /db_xref="HGNC:HGNC:26010"
                     /db_xref="MIM:616401"
     exon            1..117
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            118..299
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            300..376
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            377..553
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     CDS             431..2035
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /note="isoform d is encoded by transcript variant 6;
                     protein Spindly; arsenite-related gene 1 protein;
                     coiled-coil domain-containing protein 99;
                     rrhabdomyosarcoma antigen protein MU-RMS-40.4A;
                     rhabdomyosarcoma antigen MU-RMS-40.4A"
                     /codon_start=1
                     /product="protein Spindly isoform d"
                     /protein_id="NP_001316572.1"
                     /db_xref="GeneID:54908"
                     /db_xref="HGNC:HGNC:26010"
                     /db_xref="MIM:616401"
                     /translation="MLESLSCECEAIKQQQKMHLEKLEEQLSRSHGQEVNELKTKIEK
                     LKVELDEARLSEKQLKHQVDHQKELLSCKSEELRVMSERVQESMSSEMLALQIELTEM
                     ESMKTTLKEEVNELQYRQEQLELLITNLMRQVDRLKEEKEEREKEAVSYYNALEKARV
                     ANQDLQVQLDQALQQALDPNSKGNSLFAEVEDRRAAMERQLISMKVKYQSLKKQNVFN
                     REQMQRMKLQIATLLQMKGSQTEFEQQERLLAMLEQKNGEIKHLLGEIRNLEKFKNLY
                     DSMESKPSVDSGTLEDNTYYTDLLQMKLDNLNKEIESTKGELSIQRMKALFESQRALD
                     IERKLFANERCLQLSESENMKLRAKLDELKLKYEPEETVEVPVLKKRREVLPVDITTA
                     KDACVNNSALGGEVYRLPPQKEETQSCPNSLEDNNLQLEKSVSIYTPVVSLSPHKNLP
                     VDMQLKKEKKCVKLIGVPADAEALSERSGNTPNSPRLAAESKLQTEVKEGKETSSKLE
                     KETCKKLHPILYVSSKSTPETQCPQQ"
     exon            554..748
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            749..898
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            899..997
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1108
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1249
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1353
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1541
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            1542..1887
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            1888..2606
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2579..2584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /note="hexamer: AATAAA"
     polyA_site      2606
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /note="major polyA site"
ORIGIN      
        1 actcgagagc tagctgagcg aatgggccgg cgactgtgga gttagcgtcc tcaatgtgga
       61 cgccctgagc tcccattagg agccgctggc tgcggcagca ggggactagc gtgagagttg
      121 gctaaaaaaa agaaaagaac atggaggcag atataatcac aaatcttcga tgcaggctca
      181 aagaggctga agaagagcga ctaaaagctg cacagtatgg tttacaacta gtagagagtc
      241 aaaatgaatt acagaatcaa ttggataaat gtcgtaatga aatgatgacc atgactgagc
      301 agagattact tgacttgacg tgttgacata ccatggagca cattttactt ccttgacaag
      361 gcacagaagc agtaagagtt atgaacaaga aaaatatacc cttcaaagag aagttgaact
      421 caagagtcga atgttagaaa gtttgagctg cgaatgtgaa gctattaaac aacaacaaaa
      481 aatgcacctg gagaaattgg aagaacaact aagcagaagc catggacagg aagtgaatga
      541 actaaaaact aagatagaaa aactgaaagt ggaattagat gaagccaggc ttagtgaaaa
      601 gcagctgaag caccaagtag atcatcagaa ggaactcctc tcttgtaaat cagaggaact
      661 gcgcgtaatg tctgaacgtg tgcaggaaag catgtcttca gagatgctgg ctcttcaaat
      721 tgagctgaca gaaatggaga gtatgaagac caccctcaaa gaagaagtga atgaactaca
      781 atacagacaa gaacagctag aacttcttat tactaaccta atgcgccagg tagaccggct
      841 taaagaggaa aaagaggagc gagagaaaga agcagtttct tactataatg ccctagagaa
      901 agctcgtgta gcaaatcaag atcttcaggt acagttggac caggcactcc agcaagcctt
      961 ggatcccaat agtaaaggca actctttgtt tgcagaggtg gaagatcgaa gggcagcaat
     1021 ggaacgtcag ctcatcagta tgaaagtcaa gtatcagtca ctaaagaagc aaaatgtatt
     1081 taacagagaa cagatgcaga gaatgaagtt acaaattgcc acgttgctac agatgaaagg
     1141 gtctcaaact gaatttgagc agcaggaacg gttgcttgcc atgttggagc agaagaatgg
     1201 tgaaataaaa catcttttag gtgaaattag aaatctggag aaatttaaga atttatatga
     1261 cagtatggaa tctaagcctt cagtcgactc tggtactctg gaagataaca cctattatac
     1321 agatttactt cagatgaagc tggataactt aaacaaagaa attgaaagca ctaaaggtga
     1381 attgtccata cagcgaatga aagcattatt tgagagccag cgggctctag atattgagcg
     1441 aaaacttttt gcaaatgaaa gatgcctcca gctttcagaa agtgaaaata tgaaactgag
     1501 agctaaacta gatgaattga aactaaaata tgaacctgaa gagacagttg aagtgcctgt
     1561 actgaaaaag aggcgtgagg tgctccctgt ggatataacc accgctaaag atgcatgtgt
     1621 caacaacagt gctctcgggg gagaagttta tcgattaccg cctcagaaag aggagacaca
     1681 gtcctgccct aacagtttag aagataacaa cttgcaatta gaaaaatcag tttctatata
     1741 cacaccagta gtcagtctct ctcctcacaa aaatctgccc gtggatatgc agctgaagaa
     1801 ggaaaagaaa tgtgtgaaac tcataggagt tcccgctgac gctgaggcct taagtgaaag
     1861 aagtggaaac acccctaact ctcccaggtt agctgctgaa tcaaagcttc aaacagaagt
     1921 taaagaagga aaagaaactt caagcaaatt ggaaaaagaa acttgtaaga aattacaccc
     1981 tattctatat gtgtcttcta aatctactcc agagacccag tgccctcaac agtaaagact
     2041 tgtctttaat aagagtacgg tgccacttgc ctcaaaagtt actatggtgc ttaagattgt
     2101 cttgatctga catatatcac cttctgggtt atttactcat tgtgccagga cctggcattt
     2161 tcatgtgcct ttgaccaagt gttcagaatt tgcttgactc taacctggag agcttcttaa
     2221 gtgatgcccc ttcatggagc ttctatgaca gtgaataaac tattaattga aggaaaatgt
     2281 tataattaat gtatctattt gctgcattgt atatggatta aatgataaaa aacaagtaat
     2341 ctaccctcag agccatgtat ttgagaatgc ttcaatcata ttttcctatg tacttttttt
     2401 tataaactta gttttagact atgttgtaaa aatgggaagg ttgtaaacta tgttgtaaaa
     2461 ataggaaatg tggcttaaaa tatatacatt atattgtttc aggattttgt cagtgtttaa
     2521 agaaccaatg ttcatctttg tatttatata catgatttaa attttgtcta aaattttaaa
     2581 taaaactgca gtgatttatc cttaaa
//
