LOCUS       NM_001012409            2959 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens shugoshin 1 (SGO1), transcript variant A1, mRNA.
ACCESSION   NM_001012409
VERSION     NM_001012409.4
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 2959)
  AUTHORS   Yang,Z., Jiang,Y., Wang,L., Yu,B., Cai,H., Fan,J. and Zhang,M.
  TITLE     Prognosis and biological function of SGOL1 in clear cell renal cell
            carcinoma: a multiomics analysis
  JOURNAL   BMC Med Genomics 17 (1), 60 (2024)
   PUBMED   38383432
  REMARK    GeneRIF: Prognosis and biological function of SGOL1 in clear cell
            renal cell carcinoma: a multiomics analysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2959)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 2959)
  AUTHORS   Ueki,Y., Hadders,M.A., Weisser,M.B., Nasa,I., Sotelo-Parrilla,P.,
            Cressey,L.E., Gupta,T., Hertz,E.P.T., Kruse,T., Montoya,G.,
            Jeyaprakash,A.A., Kettenbach,A., Lens,S.M.A. and Nilsson,J.
  TITLE     A highly conserved pocket on PP2A-B56 is required for hSgo1 binding
            and cohesion protection during mitosis
  JOURNAL   EMBO Rep 22 (7), e52295 (2021)
   PUBMED   33973335
  REMARK    GeneRIF: A highly conserved pocket on PP2A-B56 is required for
            hSgo1 binding and cohesion protection during mitosis.
REFERENCE   4  (bases 1 to 2959)
  AUTHORS   Chetaille,P., Preuss,C., Burkhard,S., Cote,J.M., Houde,C.,
            Castilloux,J., Piche,J., Gosset,N., Leclerc,S., Wunnemann,F.,
            Thibeault,M., Gagnon,C., Galli,A., Tuck,E., Hickson,G.R., El
            Amine,N., Boufaied,I., Lemyre,E., de Santa Barbara,P., Faure,S.,
            Jonzon,A., Cameron,M., Dietz,H.C., Gallo-McFarlane,E., Benson,D.W.,
            Moreau,C., Labuda,D., Zhan,S.H., Shen,Y., Jomphe,M., Jones,S.J.,
            Bakkers,J. and Andelfinger,G.
  CONSRTM   FORGE Canada Consortium
  TITLE     Mutations in SGOL1 cause a novel cohesinopathy affecting heart and
            gut rhythm
  JOURNAL   Nat Genet 46 (11), 1245-1249 (2014)
   PUBMED   25282101
  REMARK    GeneRIF: Mutations in SGOL1 cause a novel cohesinopathy affecting
            heart and gut rhythm.
REFERENCE   5  (bases 1 to 2959)
  AUTHORS   Wang,X., Yang,Y., Duan,Q., Jiang,N., Huang,Y., Darzynkiewicz,Z. and
            Dai,W.
  TITLE     sSgo1, a major splice variant of Sgo1, functions in centriole
            cohesion where it is regulated by Plk1
  JOURNAL   Dev Cell 14 (3), 331-341 (2008)
   PUBMED   18331714
  REMARK    GeneRIF: Centriole splitting induced by Sgo1 depletion or
            expression of a dominant negative mutant is suppressed by ectopic
            expression of sSgo1 or by Plk1 knockdown.
REFERENCE   6  (bases 1 to 2959)
  AUTHORS   Kitajima,T.S., Sakuno,T., Ishiguro,K., Iemura,S., Natsume,T.,
            Kawashima,S.A. and Watanabe,Y.
  TITLE     Shugoshin collaborates with protein phosphatase 2A to protect
            cohesin
  JOURNAL   Nature 441 (7089), 46-52 (2006)
   PUBMED   16541025
  REMARK    GeneRIF: a specific subtype of serine/threonine protein phosphatase
            2A (PP2A) associates with human shugoshin
REFERENCE   7  (bases 1 to 2959)
  AUTHORS   Wang,X., Yang,Y. and Dai,W.
  TITLE     Differential subcellular localizations of two human Sgo1 isoforms:
            implications in regulation of sister chromatid cohesion and
            microtubule dynamics
  JOURNAL   Cell Cycle 5 (6), 635-640 (2006)
   PUBMED   16582621
REFERENCE   8  (bases 1 to 2959)
  AUTHORS   McGuinness,B.E., Hirota,T., Kudo,N.R., Peters,J.M. and Nasmyth,K.
  TITLE     Shugoshin prevents dissociation of cohesin from centromeres during
            mitosis in vertebrate cells
  JOURNAL   PLoS Biol 3 (3), e86 (2005)
   PUBMED   15737064
  REMARK    GeneRIF: A shugoshin-like protein associates with centromeres
            during prophase and disappears at the onset of anaphase
REFERENCE   9  (bases 1 to 2959)
  AUTHORS   Tang,Z., Sun,Y., Harley,S.E., Zou,H. and Yu,H.
  TITLE     Human Bub1 protects centromeric sister-chromatid cohesion through
            Shugoshin during mitosis
  JOURNAL   Proc Natl Acad Sci U S A 101 (52), 18012-18017 (2004)
   PUBMED   15604152
  REMARK    GeneRIF: Bub1 protects centromeric cohesion through Shugoshin in
            mitosis
REFERENCE   10 (bases 1 to 2959)
  AUTHORS   Scanlan,M.J., Gout,I., Gordon,C.M., Williamson,B., Stockert,E.,
            Gure,A.O., Jager,D., Chen,Y.T., Mackay,A., O'Hare,M.J. and Old,L.J.
  TITLE     Humoral immunity to human breast cancer: antigen definition and
            quantitative analysis of mRNA expression
  JOURNAL   Cancer Immun 1, 4 (2001)
   PUBMED   12747765
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX494477.1, AB193058.1,
            AB187577.1, AF308299.1, BC032696.1, BX648516.1 and AC099057.3.
            
            On Aug 14, 2020 this sequence version replaced NM_001012409.3.
            
            Summary: The protein encoded by this gene is a member of the
            shugoshin family of proteins. This protein is thought to protect
            centromeric cohesin from cleavage during mitotic prophase by
            preventing phosphorylation of a cohesin subunit. Reduced expression
            of this gene leads to the premature loss of centromeric cohesion,
            mis-segregation of sister chromatids, and mitotic arrest. Evidence
            suggests that this protein also protects a small subset of cohesin
            found along the length of the chromosome arms during mitotic
            prophase. An isoform lacking exon 6 has been shown to play a role
            in the cohesion of centrioles (PMID: 16582621 and PMID:18331714).
            Mutations in this gene have been associated with Chronic Atrial and
            Intestinal Dysrhythmia (CAID) syndrome, characterized by the
            co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal
            Pseudo-obstruction (CIPO) within the first four decades of life
            (PMID:25282101). Fibroblast cells from CAID patients exhibited both
            increased cell proliferation and higher rates of senescence.
            Pseudogenes of this gene have been found on chromosomes 1 and 7.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2015].
            
            Transcript Variant: This variant (A1) differs in the 5' UTR
            compared to variant 1. Both variants 1 and A1 encode the same
            isoform (1).
            
            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 :: SRR14038194.1321136.1,
                                           SRR14038192.3748724.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267758, SAMN03267770
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                BX494477.1         31-109
            80-154              AB193058.1         1-75
            155-1745            AB187577.1         140-1730
            1746-1949           AF308299.1         845-1048
            1950-2390           BC032696.1         901-1341
            2391-2957           BX648516.1         1696-2262
            2958-2959           AC099057.3         146567-146568       c
FEATURES             Location/Qualifiers
     source          1..2959
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.3"
     gene            1..2959
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /note="shugoshin 1"
                     /db_xref="GeneID:151648"
                     /db_xref="HGNC:HGNC:25088"
                     /db_xref="MIM:609168"
     exon            1..148
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /inference="alignment:Splign:2.1.0"
     exon            149..297
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..1739
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /note="isoform 1 is encoded by transcript variant A1;
                     shugoshin 1AB protein; shugoshin 1CD protein; shugoshin
                     1EF protein; shugoshin 1GH protein; shugoshin 1KL protein;
                     serologically defined breast cancer antigen NY-BR-85"
                     /codon_start=1
                     /product="shugoshin 1 isoform 1"
                     /protein_id="NP_001012409.1"
                     /db_xref="CCDS:CCDS46773.1"
                     /db_xref="GeneID:151648"
                     /db_xref="HGNC:HGNC:25088"
                     /db_xref="MIM:609168"
                     /translation="MAKERCLKKSFQDSLEDIKKRMKEKRNKNLAEIGKRRSFIAAPC
                     QIITNTSTLLKNYQDNNKMLVLALENEKSKVKEAQDIILQLRKECYYLTCQLYALKGK
                     LTSQQTVEPAQNQEICSSGMDPNSDDSSRNLFVKDLPQIPLEETELPGQGESFQIEDQ
                     IPTIPQDTLGVDFDSGEAKSTDNVLPRTVSVRSSLKKHCNSICQFDSLDDFETSHLAG
                     KSFEFERVGFLDPLVNMHIPENVQHNACQWSKDQVNLSPKLIQPGTFTKTKEDILESK
                     SEQTKSKQRDTQERKREEKRKANRRKSKRMSKYKENKSENKKTVPQKKMHKSVSSNDA
                     YNFNLEEGVHLTPFRQKVSNDSNREENNESEVSLCESSGSGDDSDDLYLPTCKYIQNP
                     TSNSDRPVTRPLAKRALKYTDEKETEGSKPTKTPTTTPPETQQSPHLSLKDITNVSLY
                     PVVKIRRLSLSPKKNKASPAVALPKRRCTASVNYKEPTLASKLRRGDPFTDLCFLNSP
                     IFKQKKDLRRSKKSMKQIQ"
     exon            298..494
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /inference="alignment:Splign:2.1.0"
     exon            495..571
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /inference="alignment:Splign:2.1.0"
     exon            572..630
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /inference="alignment:Splign:2.1.0"
     exon            631..1437
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1627
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1628..2959
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1921..1926
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /note="hexamer: AATAAA"
     polyA_site      1955
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /note="major polyA site"
     regulatory      2489..2494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /note="hexamer: AATAAA"
     polyA_site      2514
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /note="major polyA site"
     regulatory      2536..2541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /note="hexamer: AATAAA"
     polyA_site      2564
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /note="major polyA site"
     regulatory      2940..2945
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /note="hexamer: AATAAA"
     polyA_site      2959
                     /gene="SGO1"
                     /gene_synonym="CAID; NY-BR-85; SGO; SGOL1"
                     /note="major polyA site"
ORIGIN      
        1 gaatgtggcg gcggtagttc caggcgacgg cggacggtgg tacggtcctg gagggcccag
       61 tgcgcggggc tagccgtggc tggagagctt cgaagagcct tgaaatgtga ggaggaggaa
      121 gatagctgtt gcagaagtag tggccaaggc aaaagatggc caaggaaaga tgcctgaaaa
      181 agtcctttca agatagtctt gaagacataa agaagcgaat gaaagagaaa aggaataaaa
      241 acttggcaga gattggcaaa cgcaggtctt ttatagctgc accatgccaa ataatcacca
      301 acacttctac actgctgaaa aattaccaag acaacaacaa aatgttagtt ttagctttgg
      361 aaaatgaaaa atccaaagtg aaagaagccc aagatatcat cctacagctg agaaaagaat
      421 gttactatct cacatgtcag ctatatgcat tgaaaggaaa acttacatca caacaaacag
      481 tagaacctgc tcagaaccag gaaatatgtt cctctggaat ggaccccaat agtgatgaca
      541 gctccagaaa tttatttgtg aaggatttac cgcaaattcc tcttgaagaa actgaacttc
      601 caggacaagg agaatcattt caaatagaag atcagatacc tactattcct caagacacac
      661 tgggagttga ttttgattca ggtgaagcta agtctactga taatgtctta cctagaactg
      721 tatctgttcg tagcagttta aagaaacatt gtaacagtat atgtcagttt gatagcttgg
      781 atgattttga aaccagtcat ttggcaggga agtcttttga attcgaaaga gttggatttt
      841 tagacccact agtaaacatg cacatacctg aaaatgtaca acacaatgct tgtcaatgga
      901 gcaaggacca agttaactta tcaccaaagc tgattcagcc aggaacgttt actaaaacaa
      961 aagaagacat tttagaatct aaatctgaac aaactaaaag taagcaaaga gatacacaag
     1021 aaagaaaaag agaagagaaa agaaaagcta acaggagaaa atcaaaacgt atgtcaaaat
     1081 ataaagagaa taaaagcgaa aataaaaaaa ctgttcccca aaaaaaaatg cacaaatctg
     1141 tcagttccaa tgatgcttac aattttaatt tggaagaggg tgttcatctt actcctttcc
     1201 gacaaaaagt gagcaatgac tctaatagag aagaaaacaa cgagtctgaa gtgagcctct
     1261 gtgaatcaag tggttcagga gatgattccg atgacctcta tttgcccact tgcaagtaca
     1321 ttcagaatcc cacgagcaat tcagatagac cagtcaccag gcctctagct aaaagagcac
     1381 tgaaatacac agatgaaaaa gagacggagg gttctaagcc aacaaaaact cctaccacta
     1441 caccacctga aactcagcag tcacctcatc ttagcctgaa ggatatcacc aatgtctcct
     1501 tgtatcctgt tgtgaaaatc agaagacttt ctctttctcc aaaaaagaat aaagcaagcc
     1561 cagcagtggc tctgcctaaa cgtaggtgca cagccagcgt gaactataag gagcccaccc
     1621 tcgcttcgaa actgagaaga ggggaccctt ttacagattt gtgttttttg aattctccta
     1681 ttttcaagca gaaaaaggat ttgagacgtt ctaaaaaaag tatgaaacaa atacaatgaa
     1741 ggttttgttg gatattgttt aaattcaatc tacacctctt tctgttgctt caggagagga
     1801 tctgtaagag tacacaaaca gagtgagcca ttgccataga atattctctt gacaggaccc
     1861 tagctcataa acatttcttc agaactatac ttcaaatggg atgctttgta ttaaaacttt
     1921 aataaattta atttattttt tcttttgaat ataaataact gagcttaagc attatcatca
     1981 tatcgatttc ttatgctgcc taaacctctt aattttagtc gaaatatatc tttttttttt
     2041 tttggaggcg gaatttcatt cttgttgccc aggctggagt gcaatggcac gatctcagct
     2101 taccgcaacc tccgcctccc aggttcaagc gattctcctg cctcagactc ccgagtagct
     2161 gggactacag gcatgtgcca ctacgcccgg ctaattttgt atttttagta gagacagggt
     2221 ttctccatgt tggtcaggtt gctctcaaac tcccaacctc aggtgatctg cccacctcgg
     2281 cctcccaaag tgctgggatt actgagccac tgtgcccagc ccaaaatgta tcttatacaa
     2341 acattgtaga aatgaataat gattactcaa ataagatctt ttaattataa gcttctggca
     2401 tctctatttt tcccttaagt aggggatact aaagtgaatg attttctaag aggatctttt
     2461 gaaactcttt agtacaatat ttgagtaaaa taaattattg tggatctttt gaaactctgt
     2521 gtagtattcg agtaaaataa atatttgaca tttacagtag ggtacaccct aagttgttta
     2581 tgaattcctt ataccactgt tatatttaat ttttcagata aaatatgtat gggaaaatga
     2641 ctagagaaat tgattctttt ttaggctcag ggacaagata agtgactaat tgtgaacccc
     2701 aagctctaat tgtatgttca gagtgatgtc tccataaaat tacaaatgtc atgtactttc
     2761 agggtagctc cttatttagt cagaaatctc agagattaaa tgtgtgaata tttagggttt
     2821 ttgcatattt ttgaccaacc aatgaaagcg aattagttca gtttagaaag tttgatgtct
     2881 atacttgtat atacctcttt aaattttaga actttgtagg ttattcattt ttaaagagca
     2941 ataaagtttg tataagata
//
