LOCUS       NP_003194                781 aa            linear   PRI 05-APR-2024
DEFINITION  intron Large complex component GCFC2 isoform 1 [Homo sapiens].
ACCESSION   NP_003194
VERSION     NP_003194.3
DBSOURCE    REFSEQ: accession NM_003203.5
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  (residues 1 to 781)
  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   2  (residues 1 to 781)
  AUTHORS   Yang,C., Yin,L., Zhou,P., Liu,X., Yang,M., Yang,F., Jiang,H. and
            Ding,K.
  TITLE     Transcriptional regulation of IER5 in response to radiation in
            HepG2
  JOURNAL   Cancer Gene Ther 23 (2-3), 61-65 (2016)
   PUBMED   26915404
  REMARK    GeneRIF: Authors propose the GCF regulated transcriptional
            activity, at least in part, contributed to the upregulation of IER5
            on radiation in HepG2 cells. The present findings provide insights
            into understanding the regulatory mechanisms of IER5.
REFERENCE   3  (residues 1 to 781)
  AUTHORS   Yoshimoto,R., Okawa,K., Yoshida,M., Ohno,M. and Kataoka,N.
  TITLE     Identification of a novel component C2ORF3 in the lariat-intron
            complex: lack of C2ORF3 interferes with pre-mRNA splicing via
            intron turnover pathway
  JOURNAL   Genes Cells 19 (1), 78-87 (2014)
   PUBMED   24304693
  REMARK    GeneRIF: C2ORF3 protein is required for pre-mRNA splicing through
            its presumable role in efficient intron turnover
REFERENCE   4  (residues 1 to 781)
  AUTHORS   Melville,S.A., Buros,J., Parrado,A.R., Vardarajan,B., Logue,M.W.,
            Shen,L., Risacher,S.L., Kim,S., Jun,G., DeCarli,C., Lunetta,K.L.,
            Baldwin,C.T., Saykin,A.J. and Farrer,L.A.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Multiple loci influencing hippocampal degeneration identified by
            genome scan
  JOURNAL   Ann Neurol 72 (1), 65-75 (2012)
   PUBMED   22745009
REFERENCE   5  (residues 1 to 781)
  AUTHORS   Paracchini,S., Ang,Q.W., Stanley,F.J., Monaco,A.P., Pennell,C.E.
            and Whitehouse,A.J.
  TITLE     Analysis of dyslexia candidate genes in the Raine cohort
            representing the general Australian population
  JOURNAL   Genes Brain Behav 10 (2), 158-165 (2011)
   PUBMED   20846247
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 781)
  AUTHORS   Takimoto,M., Mao,P., Wei,G., Yamazaki,H., Miura,T., Johnson,A.C.
            and Kuzumaki,N.
  TITLE     Molecular analysis of the GCF gene identifies revisions to the cDNA
            and amino acid sequences(1)
  JOURNAL   Biochim Biophys Acta 1447 (1), 125-131 (1999)
   PUBMED   10500253
REFERENCE   7  (residues 1 to 781)
  AUTHORS   Mao,P.
  TITLE     [Revisions of the cDNA and primary protein structure of human
            transcription factor GCF]
  JOURNAL   Hokkaido Igaku Zasshi 74 (4), 315-330 (1999)
   PUBMED   10480038
REFERENCE   8  (residues 1 to 781)
  AUTHORS   Reed,A.L., Yamazaki,H., Kaufman,J.D., Rubinstein,Y., Murphy,B. and
            Johnson,A.C.
  TITLE     Molecular cloning and characterization of a transcription regulator
            with homology to GC-binding factor
  JOURNAL   J Biol Chem 273 (34), 21594-21602 (1998)
   PUBMED   9705290
REFERENCE   9  (residues 1 to 781)
  AUTHORS   Johnson,A.C., Kageyama,R., Popescu,N.C. and Pastan,I.
  TITLE     Expression and chromosomal localization of the gene for the human
            transcriptional repressor GCF
  JOURNAL   J Biol Chem 267 (3), 1689-1694 (1992)
   PUBMED   1370479
REFERENCE   10 (residues 1 to 781)
  AUTHORS   Kageyama,R. and Pastan,I.
  TITLE     Molecular cloning and characterization of a human DNA binding
            factor that represses transcription
  JOURNAL   Cell 59 (5), 815-825 (1989)
   PUBMED   2556218
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU189326.1, BC064559.1, EF158469.1 and AC005034.2.
            
            On Mar 2, 2004 this sequence version replaced NP_003194.2.
            
            Summary: The first mRNA transcript isolated for this gene was part
            of an artificial chimera derived from two distinct gene transcripts
            and a primer used in the cloning process (see Genbank accession
            M29204). A positively charged amino terminus present only in the
            chimera was determined to bind GC-rich DNA, thus mistakenly thought
            to identify a transcription factor gene. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: BC064559.1, SRR1660809.58618.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321027.8/ ENSP00000318690.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..781
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p12"
     Protein         1..781
                     /product="intron Large complex component GCFC2 isoform 1"
                     /note="GC binding factor; transcription factor 9 (binds
                     GC-rich sequences); intron Large complex component GCFC2;
                     GC bindng factor; TCF-9"
                     /calculated_mol_wt=89254
     Region          1..228
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P16383.2)"
     Site            16
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16383.2)"
     Site            17
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P16383.2)"
     Site            19
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (P16383.2)"
     Site            40
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16383.2)"
     Site            96
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P16383.2)"
     Site            97
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P16383.2)"
     Region          106..284
                     /region_name="NTR2"
                     /note="Nineteen complex-related protein 2; pfam15458"
                     /db_xref="CDD:464728"
     Site            129
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BKT3; propagated from
                     UniProtKB/Swiss-Prot (P16383.2)"
     Site            174
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16383.2)"
     Site            180
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P16383.2)"
     Site            213
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P16383.2)"
     Site            214
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P16383.2)"
     Site            217
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (P16383.2)"
     Region          467..682
                     /region_name="GCFC"
                     /note="GC-rich sequence DNA-binding factor-like protein;
                     pfam07842"
                     /db_xref="CDD:400273"
     CDS             1..781
                     /gene="GCFC2"
                     /gene_synonym="C2orf3; DNABF; GCF; TCF9"
                     /coded_by="NM_003203.5:61..2406"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1961.1"
                     /db_xref="GeneID:6936"
                     /db_xref="HGNC:HGNC:1317"
                     /db_xref="MIM:189901"
ORIGIN      
        1 mahrpkrtfr qraadssdsd gaeespaepg aprelpvpgs aeeeppsggg raqvaglphr
       61 vrgprgrgrv wassrratka apradegses rtldvstdee dkihhssesk ddqglssdss
      121 sslgekelss tvkipdaafi qaarrkrela raqddyisld vqhtssisgm kreseddpes
      181 epddhekrip ftlrpqtlrq rmaeesisrn eetseesqed ekqdtweqqq mrkavkiiee
      241 rdidlscgng sskvkkfdts isfppvnlei ikkqlntrlt llqethrshl reyekyvqdv
      301 ksskstiqnl esssnqalnc kfyksmkiyv enlidclnek iiniqeiess mhalllkqam
      361 tfmkrrqdel khestylqql srkdetstsg nfsvdektqw ileeiesrrt krrqarvlsg
      421 ncnhqegtss ddelpsaemi dfqksqgdil qkqkkvfeev qddfcniqni llkfqqwrek
      481 fpdsyyeafi slcipkllnp lirvqlidwn plklestglk empwfksvee fmdssvedsk
      541 kesssdkkvl saiinktiip rltdfveflw dplstsqtts lithcrvile ehstcenevs
      601 ksrqdllksi vsrmkkaved dvfiplypks avenktsphs kfqerqfwsg lklfrnillw
      661 nglltddtlq elglgkllnr yliiallnat pgpdvvkkcn qvaaclpekw fensamrtsi
      721 pqlenfiqfl lqsahklsrs efrdeveeii lilvkikaln qaesfigehh ldhlkslike
      781 d
//
