LOCUS       NM_022770               2200 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens GINS complex subunit 3 (GINS3), transcript variant 2,
            mRNA.
ACCESSION   NM_022770
VERSION     NM_022770.4
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 2200)
  AUTHORS   Zhang,K., Zhou,J., Wu,T., Tian,Q., Liu,T., Wang,W., Zhong,H.,
            Chen,Z., Xiao,X. and Wu,G.
  TITLE     Combined analysis of expression, prognosis and immune infiltration
            of GINS family genes in human sarcoma
  JOURNAL   Aging (Albany NY) 14 (14), 5895-5907 (2022)
   PUBMED   35896011
  REMARK    GeneRIF: Combined analysis of expression, prognosis and immune
            infiltration of GINS family genes in human sarcoma.
REFERENCE   2  (bases 1 to 2200)
  AUTHORS   McQuaid,M.E., Ahmed,K., Tran,S., Rousseau,J., Shaheen,R.,
            Kernohan,K.D., Yuki,K.E., Grover,P., Dreseris,E.S., Ahmed,S.,
            Dupuis,L., Stimec,J., Shago,M., Al-Hassnan,Z.N., Tremblay,R.,
            Maass,P.G., Wilson,M.D., Grunebaum,E., Boycott,K.M., Boisvert,F.M.,
            Maddirevula,S., Faqeih,E.A., Almanjomi,F., Khan,Z.U.,
            Alkuraya,F.S., Campeau,P.M., Kannu,P., Campos,E.I. and Wurtele,H.
  TITLE     Hypomorphic GINS3 variants alter DNA replication and cause
            Meier-Gorlin syndrome
  JOURNAL   JCI Insight 7 (10), e155648 (2022)
   PUBMED   35603789
  REMARK    GeneRIF: Hypomorphic GINS3 variants alter DNA replication and cause
            Meier-Gorlin syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2200)
  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   4  (bases 1 to 2200)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2200)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2200)
  AUTHORS   Kamada,K., Kubota,Y., Arata,T., Shindo,Y. and Hanaoka,F.
  TITLE     Structure of the human GINS complex and its assembly and functional
            interface in replication initiation
  JOURNAL   Nat Struct Mol Biol 14 (5), 388-396 (2007)
   PUBMED   17417653
REFERENCE   7  (bases 1 to 2200)
  AUTHORS   De Falco,M., Ferrari,E., De Felice,M., Rossi,M., Hubscher,U. and
            Pisani,F.M.
  TITLE     The human GINS complex binds to and specifically stimulates human
            DNA polymerase alpha-primase
  JOURNAL   EMBO Rep 8 (1), 99-103 (2007)
   PUBMED   17170760
REFERENCE   8  (bases 1 to 2200)
  AUTHORS   Yabuuchi,H., Yamada,Y., Uchida,T., Sunathvanichkul,T., Nakagawa,T.
            and Masukata,H.
  TITLE     Ordered assembly of Sld3, GINS and Cdc45 is distinctly regulated by
            DDK and CDK for activation of replication origins
  JOURNAL   EMBO J 25 (19), 4663-4674 (2006)
   PUBMED   16990792
  REMARK    GeneRIF: This paper describes work done in Schizosaccharomyces
            pombe.
REFERENCE   9  (bases 1 to 2200)
  AUTHORS   Hayashi,R., Arauchi,T., Tategu,M., Goto,Y. and Yoshida,K.
  TITLE     A combined computational and experimental study on the
            structure-regulation relationships of putative mammalian DNA
            replication initiator GINS
  JOURNAL   Genomics Proteomics Bioinformatics 4 (3), 156-164 (2006)
   PUBMED   17127213
  REMARK    GeneRIF: expression of mammalian GINS is regulated by
            17beta-Estradiol-stimulated estrogen receptor alpha, and PSF3 acts
            as a gene responsive to transcription factor E2F1
REFERENCE   10 (bases 1 to 2200)
  AUTHORS   Takayama,Y., Kamimura,Y., Okawa,M., Muramatsu,S., Sugino,A. and
            Araki,H.
  TITLE     GINS, a novel multiprotein complex required for chromosomal DNA
            replication in budding yeast
  JOURNAL   Genes Dev 17 (9), 1153-1165 (2003)
   PUBMED   12730134
  REMARK    GeneRIF: This paper describes work done in Saccharomyces
            cerevisiae.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA550725.1, BC005879.1 and
            AC009118.11.
            
            On Jun 2, 2019 this sequence version replaced NM_022770.3.
            
            Summary: This gene encodes a protein subunit of the GINS
            heterotetrameric complex, which is essential for the initiation of
            DNA replication and replisome progression in eukaryotes.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon, compared to variant 1, resulting in a shorter protein
            (isoform b), compared to 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 :: SRR1163657.491169.1,
                                           SRR1660807.142328.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318129.6/ ENSP00000318196.6
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                DA550725.1         78-125
            49-2184             BC005879.1         1-2136
            2185-2197           BC005879.1         2141-2153
            2198-2200           AC009118.11        142424-142426       c
FEATURES             Location/Qualifiers
     source          1..2200
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q21"
     gene            1..2200
                     /gene="GINS3"
                     /gene_synonym="PSF3"
                     /note="GINS complex subunit 3"
                     /db_xref="GeneID:64785"
                     /db_xref="HGNC:HGNC:25851"
                     /db_xref="MIM:610610"
     exon            1..317
                     /gene="GINS3"
                     /gene_synonym="PSF3"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..782
                     /gene="GINS3"
                     /gene_synonym="PSF3"
                     /note="isoform b is encoded by transcript variant 2; DNA
                     replication complex GINS protein PSF3; GINS complex
                     subunit 3 (Psf3 homolog)"
                     /codon_start=1
                     /product="DNA replication complex GINS protein PSF3
                     isoform b"
                     /protein_id="NP_073607.2"
                     /db_xref="CCDS:CCDS10796.1"
                     /db_xref="GeneID:64785"
                     /db_xref="HGNC:HGNC:25851"
                     /db_xref="MIM:610610"
                     /translation="MSEAYFRVESGALGPEENFLSLDDILMSHEKLPVRTETAMPRLG
                     AFFLERSAGAETDNAVPQGSKLELPLWLAKGLFDNKRRILSVELPKIYQEGWRTVFSA
                     DPNVVDLHKMGPHFYGFGSQLLHFDSPENADISQSLLQTFIGRFRRIMDSSQNAYNED
                     TSALVARLDEMERGLFQTGQKGLNDFQCWEKGQASQITASNLVQNYKKRKFTDMED"
     exon            318..551
                     /gene="GINS3"
                     /gene_synonym="PSF3"
                     /inference="alignment:Splign:2.1.0"
     exon            552..2200
                     /gene="GINS3"
                     /gene_synonym="PSF3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2066..2071
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GINS3"
                     /gene_synonym="PSF3"
                     /note="hexamer: AATAAA"
     polyA_site      2091
                     /gene="GINS3"
                     /gene_synonym="PSF3"
                     /note="major polyA site"
     polyA_site      2132
                     /gene="GINS3"
                     /gene_synonym="PSF3"
     regulatory      2174..2179
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GINS3"
                     /gene_synonym="PSF3"
                     /note="hexamer: AATACA"
     polyA_site      2200
                     /gene="GINS3"
                     /gene_synonym="PSF3"
ORIGIN      
        1 aaacgagttt caatccactt tcctgacccc aaccatcctg cccagtctcc gcttccccgt
       61 cttgtacacc cctaactcct gaggctcctc cgaatcacgc gagtggaagc ggagaagctc
      121 aagtggccgc catgtcagag gcttatttcc gagtggagtc gggtgcgctg gggcctgagg
      181 agaactttct ttctttggac gacatcctga tgtcccacga gaagctgccg gtgcgcacgg
      241 agaccgccat gcctcgcctt ggcgctttct tcctggagcg gagcgcaggc gccgagactg
      301 acaacgcggt cccacagggt tccaagcttg aactaccctt gtggctggca aaaggacttt
      361 ttgacaacaa gcgacggatc ctttctgtgg aactccccaa gatctaccaa gagggttgga
      421 ggactgtgtt cagtgcagat cccaatgtgg tggacctcca caaaatgggg ccccatttct
      481 acgggtttgg ctcccagctc ctgcattttg acagtcccga gaatgcagac atttcccagt
      541 ctctgctgca gacttttatc ggacgttttc gccgcatcat ggactcctca cagaatgctt
      601 acaacgaaga cacttcagcc ctggtagcca ggctagacga gatggagagg ggcttatttc
      661 aaacagggca gaaaggactg aatgactttc agtgttggga gaaggggcag gcttctcaga
      721 tcacagcttc caacctcgtt cagaattaca agaagagaaa attcactgat atggaagact
      781 gaaagccgga agaacacaga atggctcctc acagacgtat ccctccgtgt gtccttgata
      841 ggagctggtt gaccttgtac agaaccagaa tcctgtccca tttcatggct tatttcctgt
      901 ggccatagag aattataggg aactggacat gctggaggat gtgggtgtcc ctggctctgt
      961 gagtcttcca ggaccgtccc accctgctga cccacagccc aggcccttta acccaagaac
     1021 ccatggccaa ggagaaatca aagtccttcc taaataagaa tcactgccat ataatatatc
     1081 acagtagagt tgcaactgag attccttgtg tctgggagtt tggacagctt cagatgtaca
     1141 gtttcactag ccacaaagca caggtacaaa ctgggtcatc gcctgttcac aaaatgctct
     1201 cttgatctta tttgcctcat cttcctcatg gttgtacaga ggatagcacc ccaccatgcc
     1261 agcctgactt ggagatatct cctgctgcct gcctgcaggg agttacccca gtttccaaaa
     1321 acagtcgccc agataaagga ggaaaaggga aaggcagacg aatggcatgg cttttactaa
     1381 agaaaagatg ttggcctcat actctatact cagggcttaa tgaactggaa tctgcataac
     1441 tcagcagtca acccagaagg gaaatggtta aactgagctt gttattgcct cggagagcct
     1501 aagagcaccc gcacacttaa ttctactccc tgtctagaaa agctgtcagg gagtcgtttg
     1561 gaattgcaat gtagttatta agggctgtta accagcctgc attacatctg gaagtcagga
     1621 cttgggtgct gactatgaag ggccctgttt tcaaaatcta acattgcaag tgtaaatggg
     1681 caagaagcct ccgttgtgct ttttttttcc tcttcagtaa cttttgcaac attattgcat
     1741 agaagatccc tgaccattta ctaggaacct ggttaagcaa gcactaatct cttttcctgg
     1801 agatcaagga tgcaacctca ggttgagaaa gaaacagggt tccctgggcc cattagactg
     1861 tttgcagggc atcactgctt ccccctgaca cctcacaact agcaaaaatt gtctttgtct
     1921 ttggaaatta tagagggatt tgggtatcca gattgtgcag atgcaaactt aggctgtctt
     1981 gatgcaaact tagaaccaca gaaatgcttt taaaatgcct gttttaagat ggaattgttg
     2041 tttttataat ttgattttag tgctaaataa atgattggct ttgtacatga atatgttctg
     2101 tacaagtgct ctttcactag tactacagat aatcaaagct atcagaattg tgtctttgat
     2161 catatttgac ggtaatacac aaatccatgt tttagcagct
//
