LOCUS       NM_017785               2529 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens spindle apparatus coiled-coil protein 1 (SPDL1),
            transcript variant 3, mRNA.
ACCESSION   NM_017785
VERSION     NM_017785.5
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 2529)
  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 2529)
  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 2529)
  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 2529)
  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 2529)
  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 2529)
  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 2529)
  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 2529)
  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 2529)
  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 2529)
  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 DC379275.1, BC012568.1,
            BU166207.1, CD653505.1, BP295943.1 and CA417197.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_017785.4.
            
            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].
            
            Transcript Variant: Variants 3 and 4 encode the same isoform (b).
            
            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 :: SRR5189658.167767.1, BC012568.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265295.9/ ENSP00000265295.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-234               DC379275.1         140-373
            235-955             BC012568.1         240-960
            956-1530            BU166207.1         36-610
            1531-1863           CD653505.1         319-651
            1864-2313           BP295943.1         133-582
            2314-2529           CA417197.1         16-231              c
FEATURES             Location/Qualifiers
     source          1..2529
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..2529
                     /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"
     CDS             141..1958
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /note="isoform b is encoded by transcript variant 3;
                     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 b"
                     /protein_id="NP_060255.3"
                     /db_xref="CCDS:CCDS4370.1"
                     /db_xref="GeneID:54908"
                     /db_xref="HGNC:HGNC:26010"
                     /db_xref="MIM:616401"
                     /translation="MEADIITNLRCRLKEAEEERLKAAQYGLQLVESQNELQNQLDKC
                     RNEMMTMTESYEQEKYTLQREVELKSRMLESLSCECEAIKQQQKMHLEKLEEQLSRSH
                     GQEVNELKTKIEKLKVELDEARLSEKQLKHQVDHQKELLSCKSEELRVMSERVQESMS
                     SEMLALQIELTEMESMKTTLKEEVNELQYRQEQLELLITNLMRQVDRLKEEKEEREKE
                     AVSYYNALEKARVANQDLQVQLDQALQQALDPNSKGNSLFAEVEDRRAAMERQLISMK
                     VKYQSLKKQNVFNREQMQRMKLQIATLLQMKGSQTEFEQQERLLAMLEQKNGEIKHLL
                     GEIRNLEKFKNLYDSMESKPSVDSGTLEDNTYYTDLLQMKLDNLNKEIESTKGELSIQ
                     RMKALFESQRALDIERKLFANERCLQLSESENMKLRAKLDELKLKYEPEETVEVPVLK
                     KRREVLPVDITTAKDACVNNSALGGEVYRLPPQKEETQSCPNSLEDNNLQLEKSVSIY
                     TPVVSLSPHKNLPVDMQLKKEKKCVKLIGVPADAEALSERSGNTPNSPRLAAESKLQT
                     EVKEGKETSSKLEKETCKKLHPILYVSSKSTPETQCPQQ"
     exon            300..476
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            477..671
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            672..821
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            822..920
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1031
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1172
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1276
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1464
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..1810
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..2529
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2502..2507
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPDL1"
                     /gene_synonym="CCDC99"
                     /note="hexamer: AATAAA"
     polyA_site      2529
                     /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 atgactgaga
      301 gttatgaaca agaaaaatat acccttcaaa gagaagttga actcaagagt cgaatgttag
      361 aaagtttgag ctgcgaatgt gaagctatta aacaacaaca aaaaatgcac ctggagaaat
      421 tggaagaaca actaagcaga agccatggac aggaagtgaa tgaactaaaa actaagatag
      481 aaaaactgaa agtggaatta gatgaagcca ggcttagtga aaagcagctg aagcaccaag
      541 tagatcatca gaaggaactc ctctcttgta aatcagagga actgcgcgta atgtctgaac
      601 gtgtgcagga aagcatgtct tcagagatgc tggctcttca aattgagctg acagaaatgg
      661 agagtatgaa gaccaccctc aaagaagaag tgaatgaact acaatacaga caagaacagc
      721 tagaacttct tattactaac ctaatgcgcc aggtagaccg gcttaaagag gaaaaagagg
      781 agcgagagaa agaagcagtt tcttactata atgccctaga gaaagctcgt gtagcaaatc
      841 aagatcttca ggtacagttg gaccaggcac tccagcaagc cttggatccc aatagtaaag
      901 gcaactcttt gtttgcagag gtggaagatc gaagggcagc aatggaacgt cagctcatca
      961 gtatgaaagt caagtatcag tcactaaaga agcaaaatgt atttaacaga gaacagatgc
     1021 agagaatgaa gttacaaatt gccacgttgc tacagatgaa agggtctcaa actgaatttg
     1081 agcagcagga acggttgctt gccatgttgg agcagaagaa tggtgaaata aaacatcttt
     1141 taggtgaaat tagaaatctg gagaaattta agaatttata tgacagtatg gaatctaagc
     1201 cttcagtcga ctctggtact ctggaagata acacctatta tacagattta cttcagatga
     1261 agctggataa cttaaacaaa gaaattgaaa gcactaaagg tgaattgtcc atacagcgaa
     1321 tgaaagcatt atttgagagc cagcgggctc tagatattga gcgaaaactt tttgcaaatg
     1381 aaagatgcct ccagctttca gaaagtgaaa atatgaaact gagagctaaa ctagatgaat
     1441 tgaaactaaa atatgaacct gaagagacag ttgaagtgcc tgtactgaaa aagaggcgtg
     1501 aggtgctccc tgtggatata accaccgcta aagatgcatg tgtcaacaac agtgctctcg
     1561 ggggagaagt ttatcgatta ccgcctcaga aagaggagac acagtcctgc cctaacagtt
     1621 tagaagataa caacttgcaa ttagaaaaat cagtttctat atacacacca gtagtcagtc
     1681 tctctcctca caaaaatctg cccgtggata tgcagctgaa gaaggaaaag aaatgtgtga
     1741 aactcatagg agttcccgct gacgctgagg ccttaagtga aagaagtgga aacaccccta
     1801 actctcccag gttagctgct gaatcaaagc ttcaaacaga agttaaagaa ggaaaagaaa
     1861 cttcaagcaa attggaaaaa gaaacttgta agaaattaca ccctattcta tatgtgtctt
     1921 ctaaatctac tccagagacc cagtgccctc aacagtaaag acttgtcttt aataagagta
     1981 cggtgccact tgcctcaaaa gttactatgg tgcttaagat tgtcttgatc tgacatatat
     2041 caccttctgg gttatttact cattgtgcca ggacctggca ttttcatgtg cctttgacca
     2101 agtgttcaga atttgcttga ctctaacctg gagagcttct taagtgatgc cccttcatgg
     2161 agcttctatg acagtgaata aactattaat tgaaggaaaa tgttataatt aatgtatcta
     2221 tttgctgcat tgtatatgga ttaaatgata aaaaacaagt aatctaccct cagagccatg
     2281 tatttgagaa tgcttcaatc atattttcct atgtactttt ttttataaac ttagttttag
     2341 actatgttgt aaaaatggga aggttgtaaa ctatgttgta aaaataggaa atgtggctta
     2401 aaatatatac attatattgt ttcaggattt tgtcagtgtt taaagaacca atgttcatct
     2461 ttgtatttat atacatgatt taaattttgt ctaaaatttt aaataaaact gcagtgattt
     2521 atccttaaa
//
