LOCUS       NM_014679               3141 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens centrosomal protein 57 (CEP57), transcript variant 1,
            mRNA.
ACCESSION   NM_014679 XM_374925
VERSION     NM_014679.5
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 3141)
  AUTHORS   Yeh,H.W., Chen,P.P., Yeh,T.C., Lin,S.L., Chen,Y.T., Lin,W.P.,
            Chen,T., Pang,J.M., Lin,K.T., Wang,L.H., Lin,Y.C., Shih,O.,
            Jeng,U.S., Hsia,K.C. and Cheng,H.C.
  TITLE     Cep57 regulates human centrosomes through multivalent interactions
  JOURNAL   Proc Natl Acad Sci U S A 121 (25), e2305260121 (2024)
   PUBMED   38857398
  REMARK    GeneRIF: Cep57 regulates human centrosomes through multivalent
            interactions.
REFERENCE   2  (bases 1 to 3141)
  AUTHORS   Langeh,N., Saluja,S., Ethayathulla,A.S., Jana,M., Shukla,R.,
            Palanichamy,J.K. and Gupta,N.
  TITLE     Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57
            splice site variation in Indian siblings: Expanding the clinical
            and molecular spectrum
  JOURNAL   Clin Genet 103 (4), 478-483 (2023)
   PUBMED   36635612
  REMARK    GeneRIF: Mosaic variegated aneuploidy syndrome 2 with biallelic
            novel CEP57 splice site variation in Indian siblings: Expanding the
            clinical and molecular spectrum.
REFERENCE   3  (bases 1 to 3141)
  AUTHORS   O'Neill,A.C., Uzbas,F., Antognolli,G., Merino,F., Draganova,K.,
            Jack,A., Zhang,S., Pedini,G., Schessner,J.P., Cramer,K.,
            Schepers,A., Metzger,F., Esgleas,M., Smialowski,P., Guerrini,R.,
            Falk,S., Feederle,R., Freytag,S., Wang,Z., Bahlo,M., Jungmann,R.,
            Bagni,C., Borner,G.H.H., Robertson,S.P., Hauck,S.M. and Gotz,M.
  TITLE     Spatial centrosome proteome of human neural cells uncovers
            disease-relevant heterogeneity
  JOURNAL   Science 376 (6599), eabf9088 (2022)
   PUBMED   35709258
REFERENCE   4  (bases 1 to 3141)
  AUTHORS   Santos-Simarro,F., Pacio,M., Cueto-Gonzalez,A.M., Mansilla,E.,
            Valenzuela-Palafoll,M.I., Lopez-Grondona,F., Lledin,M.D.,
            Schuffelmann,C., Del Pozo,A., Solis,M., Vallcorba,P., Lapunzina,P.,
            Menendez Suso,J.J., Siccha,S.M., Montejo,J.M., Mena,R.,
            Jimenez-Rodriguez,C., Garcia-Minaur,S. and Palomares-Bralo,M.
  TITLE     Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic
            variants in CEP57, two new cases and review of the phenotype
  JOURNAL   Eur J Med Genet 64 (11), 104338 (2021)
   PUBMED   34500087
  REMARK    GeneRIF: Mosaic Variegated Aneuploidy syndrome 2 caused by
            biallelic variants in CEP57, two new cases and review of the
            phenotype.
            Review article
REFERENCE   5  (bases 1 to 3141)
  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   6  (bases 1 to 3141)
  AUTHORS   Nakayama,M., Kikuno,R. and Ohara,O.
  TITLE     Protein-protein interactions between large proteins: two-hybrid
            screening using a functionally classified library composed of long
            cDNAs
  JOURNAL   Genome Res 12 (11), 1773-1784 (2002)
   PUBMED   12421765
REFERENCE   7  (bases 1 to 3141)
  AUTHORS   Takahashi,M., Yamagiwa,A., Nishimura,T., Mukai,H. and Ono,Y.
  TITLE     Centrosomal proteins CG-NAP and kendrin provide microtubule
            nucleation sites by anchoring gamma-tubulin ring complex
  JOURNAL   Mol Biol Cell 13 (9), 3235-3245 (2002)
   PUBMED   12221128
REFERENCE   8  (bases 1 to 3141)
  AUTHORS   Mayor,T., Stierhof,Y.D., Tanaka,K., Fry,A.M. and Nigg,E.A.
  TITLE     The centrosomal protein C-Nap1 is required for cell cycle-regulated
            centrosome cohesion
  JOURNAL   J Cell Biol 151 (4), 837-846 (2000)
   PUBMED   11076968
REFERENCE   9  (bases 1 to 3141)
  AUTHORS   Hoja,M.R., Wahlestedt,C. and Hoog,C.
  TITLE     A visual intracellular classification strategy for uncharacterized
            human proteins
  JOURNAL   Exp Cell Res 259 (1), 239-246 (2000)
   PUBMED   10942595
REFERENCE   10 (bases 1 to 3141)
  AUTHORS   Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB032301.1, BC001233.2,
            AY239292.1 and AA730219.1.
            
            On Nov 22, 2018 this sequence version replaced NM_014679.4.
            
            Summary: This gene encodes a cytoplasmic protein called Translokin.
            This protein localizes to the centrosome and has a function in
            microtubular stabilization. The N-terminal half of this protein is
            required for its centrosome localization and for its
            multimerization, and the C-terminal half is required for
            nucleating, bundling and anchoring microtubules to the centrosomes.
            This protein specifically interacts with fibroblast growth factor 2
            (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins
            KIF3A and KIF3B, and thus mediates the nuclear translocation and
            mitogenic activity of the FGF2. It also interacts with cyclin D1
            and controls nucleocytoplasmic distribution of the cyclin D1 in
            quiescent cells. This protein is crucial for maintaining correct
            chromosomal number during cell division. Mutations in this gene
            cause mosaic variegated aneuploidy syndrome, a rare autosomal
            recessive disorder. Multiple alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR1803615.275872.1,
                                           SRR1803616.127068.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325542.10/ ENSP00000317902.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                DB032301.1         38-74
            38-1995             BC001233.2         58-2015
            1996-3138           AY239292.1         1934-3076
            3139-3141           AA730219.1         15-17               c
FEATURES             Location/Qualifiers
     source          1..3141
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q21"
     gene            1..3141
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /note="centrosomal protein 57"
                     /db_xref="GeneID:9702"
                     /db_xref="HGNC:HGNC:30794"
                     /db_xref="MIM:607951"
     exon            1..246
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     CDS             202..1704
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /note="isoform a is encoded by transcript variant 1;
                     translokin; proliferation-inducing protein 8; centrosomal
                     protein 57kDa; FGF2-interacting protein; testis-specific
                     protein 57"
                     /codon_start=1
                     /product="centrosomal protein of 57 kDa isoform a"
                     /protein_id="NP_055494.2"
                     /db_xref="CCDS:CCDS8304.1"
                     /db_xref="GeneID:9702"
                     /db_xref="HGNC:HGNC:30794"
                     /db_xref="MIM:607951"
                     /translation="MAAASVSAASGSHLSNSFAEPSRSNGSMVRHSSSPYVVYPSDKP
                     FLNSDLRRSPSKPTLAYPESNSRAIFSALKNLQDKIRRLELERIQAEESVKTLSRETI
                     EYKKVLDEQIQERENSKNEESKHNQELTSQLLAAENKCNLLEKQLEYMRNMIKHAEME
                     RTSVLEKQVSLERERQHDQTHVQSQLEKLDLLEQEYNKLTTMQALAEKKMQELEAKLH
                     EEEQERKRMQAKAAELQTGLETNRLIFEDKATPCVPNARRIKKKKSKPPEKKSSRNYF
                     GAQPHYRLCLGDMPFVAGKSTSPSHAVVANVQLVLHLMKQHSKALCNDRVINSIPLAK
                     QVSSRGGKSKKLSVTPPSSNGINEELSEVLQTLQDEFGQMSFDHQQLAKLIQESPTVE
                     LKDKLECELEALVGRMEAKANQITKVRKYQAQLEKQKLEKQKKELKATKKTLDEERNS
                     SSRSGITGTTNKKDFMKLRPGEKRRKNLQLLKDMQSIQNSLQSSSLCWDY"
     exon            247..403
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     exon            404..583
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     exon            584..705
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     exon            706..822
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     exon            823..900
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     exon            901..1008
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1086
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     exon            1087..1328
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1473
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..3141
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2656..2661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /note="hexamer: AATAAA"
     polyA_site      2679
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /note="major polyA site"
     regulatory      3116..3121
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /note="hexamer: ATTAAA"
     polyA_site      3141
                     /gene="CEP57"
                     /gene_synonym="MVA2; PIG8; TSP57"
                     /note="major polyA site"
ORIGIN      
        1 ctttctgtgt aagctgtgag cgtaggcggc cctgaggggg tgtgttgcag gggtttccaa
       61 gcccagcacc agcacccttg cccttttcca tcaggggttc agcctagggt ccccgctggt
      121 gggcggctcc cgagtcttgg agaagagcac gagaacctag accgcccccg aagtgcggag
      181 accccctggg caggctgaaa gatggcggcg gcgtctgtct ctgcggcttc tggttctcac
      241 ttgtcgaaca gctttgctga gccatcaagg tctaatggaa gcatggttcg gcattcttca
      301 tctccatatg tagtatatcc ttcggataag cctttcctta atagtgatct acgacgctcc
      361 ccaagtaagc ctacacttgc ctatccagaa agcaacagca gagccatatt ttctgctctt
      421 aagaatcttc aagataagat tcgacgcttg gaacttgaga ggattcaggc agaagaaagt
      481 gtgaaaacct tgtctagaga aacaattgaa tataagaaag tactggatga acagatacaa
      541 gaaagggaga attcaaagaa tgaggaatca aagcacaatc aagaactgac atctcagttg
      601 ttagctgcag aaaataaatg caatctatta gaaaaacaat tggaatacat gcgaaatatg
      661 ataaagcatg ccgaaatgga gaggacatct gtcttagaga aacaagtttc cctagaaaga
      721 gaacgacaac atgatcaaac acatgttcag agccaacttg aaaaattgga tcttcttgaa
      781 caggagtata acaaacttac cacaatgcag gcccttgcag aaaaaaaaat gcaagagttg
      841 gaagcaaaac tccatgaaga agaacaggaa aggaaacgca tgcaagctaa ggcagctgag
      901 ttgcagactg gtctagaaac aaatagactt atctttgaag ataaggcaac tccgtgtgtt
      961 cccaatgcaa gaagaattaa aaaaaagaag tcaaaaccac cagaaaagaa aagttctagg
     1021 aactattttg gtgcacaacc acattataga ttatgcttgg gtgatatgcc atttgtagct
     1081 gggaagtcca caagccctag ccatgccgtg gtagccaatg ttcagcttgt cttgcatcta
     1141 atgaagcaac acagtaaagc tttgtgcaat gatcgagtca tcaacagtat tcctttggca
     1201 aagcaagtat cttcacgagg tggtaaaagt aagaagttgt cagtaacacc tccctcctcc
     1261 aacggtatta atgaggagtt gtcagaagtc ttacagactt tacaggatga atttgggcaa
     1321 atgagctttg atcaccagca gcttgcaaaa cttatccagg agtcgccaac cgttgaactg
     1381 aaagacaagt tggagtgtga attggaggca ttagtgggaa ggatggaagc aaaagccaac
     1441 caaataacta aagttcgaaa ataccaagcc cagctggaga aacagaagtt agagaagcag
     1501 aagaaggaat taaaagctac caaaaagact cttgatgaag aaagaaacag cagcagccgt
     1561 tctggaatca cagggaccac aaataagaaa gattttatga aactgagacc tggagaaaaa
     1621 aggagaaaaa atcttcagtt attgaaggac atgcaaagca tacagaattc attacaaagc
     1681 agtagtttgt gttgggatta ctgactcata accaggtcag aaattttatt cagataatct
     1741 gtacctcatc aatcagatga tgacaattta cttcccaggt ctcatactca cttatgttgg
     1801 aattaattaa tagcaggtgt taaaggaccc aggcttcatt acacaggctt ttcatgtatg
     1861 caggatgact caatgttaaa gcatttaaat ggaaaccagg ggagttttaa agcccgagaa
     1921 accacacata atcttttgtt gagatgagtt tgctgtactg acgctgcact ttgtaaacag
     1981 attaccagtt ttttacttgt gggtgtgatt ttttaaaata gttctttata tataattaaa
     2041 attaggttta aattttcaaa atatgagact atgctatagg cagtgcttgc ttgaaaagtc
     2101 tcatttttaa atctccctgg catgaggtgc ccacttcccc tttccaaagc aaccattaaa
     2161 catactttgt ttctactatt ggtggagttt ttctatattt aaaaatacat atatatttca
     2221 gaggattttt attttgcttt ttggcatttc agactttgat cagtgttaag tgcacttgta
     2281 ttgcttttta atctgttaat tttttaaaga cccaagcagt cattttgagt tatatctata
     2341 aaaattataa aaggattttt gaaagtataa acaaattgtc agtgaaataa atgagatttt
     2401 ggaataaagt gagaatggga gaagggatat gttgtgagca tataccttca cagttcttaa
     2461 tacctgtttt gtaatcatga tattcagtca aggcattatg gtttttaatc ttgaaactta
     2521 gagaaccctt tgaatatttg cttttactgg tgtacagtat gagtggaata taaactgtac
     2581 acataattat catgttgata taaatcataa tttcaactag atcaagacat gttaaccttt
     2641 tataaattta aagtcaataa agcacctttt taaaggaaac actgcaactt tccttaacag
     2701 cctgttaata aaggctttgt gacaagctct caaaaaatgc atttctaaat aggaggacat
     2761 caatgtattg atgaagagaa aaaactagta cttagttgcc acactcatgc ttacatagaa
     2821 agagagccca agaatattag atttcctcat gatacaagat actacagtaa caggctttaa
     2881 tttaggatcc ttaagatttt ggggtattat ttgtgactct cctgaaattg taaacttgtg
     2941 cttctgtgtc cagttttcta atgagtaggt tcgtagcttg attgaattaa taattgtgag
     3001 cccatagaca caagggaagt gagaaacagt gctctggtga catgataaat atatgtgtca
     3061 accaccattt cagctattaa aaactcctgt tatctccttg tttgaatttc aggtcattaa
     3121 attgtataac catcatttga a
//
