LOCUS       NM_002049               1464 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens GATA binding protein 1 (GATA1), mRNA.
ACCESSION   NM_002049
VERSION     NM_002049.4
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 1464)
  AUTHORS   Wang,C., Hu,M., Yu,K., Liu,W., Hu,A., Kuang,Y., Huang,L.,
            Gajendran,B., Zacksenhaus,E., Xiao,X. and Ben-David,Y.
  TITLE     An intricate regulatory circuit between FLI1 and
            GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic
            differentiation
  JOURNAL   Mol Med Rep 29 (6) (2024)
   PUBMED   38695236
  REMARK    GeneRIF: An intricate regulatory circuit between FLI1 and
            GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic
            differentiation.
REFERENCE   2  (bases 1 to 1464)
  AUTHORS   Sessa,R., Trombetti,S., Bianco,A.L., Amendola,G., Catapano,R.,
            Cesaro,E., Petruzziello,F., D'Armiento,M., Maruotti,G.M., Menna,G.,
            Izzo,P. and Grosso,M.
  TITLE     miR-1202 acts as anti-oncomiR in myeloid leukaemia by
            down-modulating GATA-1S expression
  JOURNAL   Open Biol 14 (2), 230319 (2024)
   PUBMED   38350611
  REMARK    GeneRIF: miR-1202 acts as anti-oncomiR in myeloid leukaemia by
            down-modulating GATA-1S expression.
REFERENCE   3  (bases 1 to 1464)
  AUTHORS   Ding,B., Mao,Y., Li,Y., Xin,M., Jiang,S., Hu,X., Xu,Q., Ding,Q. and
            Wang,X.
  TITLE     A novel GATA1 variant p.G229D causing the defect of procoagulant
            platelet formation
  JOURNAL   Thromb Res 234, 39-50 (2024)
   PUBMED   38159323
  REMARK    GeneRIF: A novel GATA1 variant p.G229D causing the defect of
            procoagulant platelet formation.
REFERENCE   4  (bases 1 to 1464)
  AUTHORS   Takasaki,K. and Chou,S.T.
  TITLE     GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet
            Development
  JOURNAL   Adv Exp Med Biol 1459, 261-287 (2024)
   PUBMED   39017848
  REMARK    GeneRIF: GATA1 in Normal and Pathologic Megakaryopoiesis and
            Platelet Development.
            Review article
REFERENCE   5  (bases 1 to 1464)
  AUTHORS   Erwin,A., Balwani,M. and Desnick,R.J.
  CONSRTM   Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical
            Research Network
  TITLE     Congenital Erythropoietic Porphyria
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24027798
REFERENCE   6  (bases 1 to 1464)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301769
REFERENCE   7  (bases 1 to 1464)
  AUTHORS   Takasaki,K., Kacena,M.A., Raskind,W.H., Weiss,M.J. and Chou,S.T.
  TITLE     GATA1-Related Cytopenia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301538
REFERENCE   8  (bases 1 to 1464)
  AUTHORS   Caiulo,A., Nicolis,S., Bianchi,P., Zuffardi,O., Bardoni,B.,
            Maraschio,P., Ottolenghi,S., Camerino,G. and Giglioni,B.
  TITLE     Mapping the gene encoding the human erythroid transcriptional
            factor NFE1-GF1 to Xp11.23
  JOURNAL   Hum Genet 86 (4), 388-390 (1991)
   PUBMED   1999341
REFERENCE   9  (bases 1 to 1464)
  AUTHORS   Trainor,C.D., Evans,T., Felsenfeld,G. and Boguski,M.S.
  TITLE     Structure and evolution of a human erythroid transcription factor
  JOURNAL   Nature 343 (6253), 92-96 (1990)
   PUBMED   2104960
REFERENCE   10 (bases 1 to 1464)
  AUTHORS   Zon,L.I., Tsai,S.F., Burgess,S., Matsudaira,P., Bruns,G.A. and
            Orkin,S.H.
  TITLE     The major human erythroid DNA-binding protein (GF-1): primary
            sequence and localization of the gene to the X chromosome
  JOURNAL   Proc Natl Acad Sci U S A 87 (2), 668-672 (1990)
   PUBMED   2300555
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X17254.1 and AI057349.1.
            
            On Aug 31, 2019 this sequence version replaced NM_002049.3.
            
            Summary: This gene encodes a protein which belongs to the GATA
            family of transcription factors. The protein plays an important
            role in erythroid development by regulating the switch of fetal
            hemoglobin to adult hemoglobin. Mutations in this gene have been
            associated with X-linked dyserythropoietic anemia and
            thrombocytopenia. [provided by RefSeq, Jul 2008].
            
            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 :: X17254.1, M30601.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376670.9/ ENSP00000365858.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1461              X17254.1           38-1498
            1462-1464           AI057349.1         22-24               c
FEATURES             Location/Qualifiers
     source          1..1464
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1464
                     /gene="GATA1"
                     /gene_synonym="CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA;
                     NF-E1; NFE1; XLANP; XLTDA; XLTT"
                     /note="GATA binding protein 1"
                     /db_xref="GeneID:2623"
                     /db_xref="HGNC:HGNC:4170"
                     /db_xref="MIM:305371"
     exon            1..56
                     /gene="GATA1"
                     /gene_synonym="CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA;
                     NF-E1; NFE1; XLANP; XLTDA; XLTT"
                     /inference="alignment:Splign:2.1.0"
     exon            57..295
                     /gene="GATA1"
                     /gene_synonym="CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA;
                     NF-E1; NFE1; XLANP; XLTDA; XLTT"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..1317
                     /gene="GATA1"
                     /gene_synonym="CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA;
                     NF-E1; NFE1; XLANP; XLTDA; XLTT"
                     /note="globin transcription factor 1; transcription factor
                     GATA1; NF-E1 DNA-binding protein; erythroid transcription
                     factor 1; GATA-binding factor 1; nuclear factor, erythroid
                     1"
                     /codon_start=1
                     /product="erythroid transcription factor"
                     /protein_id="NP_002040.1"
                     /db_xref="CCDS:CCDS14305.1"
                     /db_xref="GeneID:2623"
                     /db_xref="HGNC:HGNC:4170"
                     /db_xref="MIM:305371"
                     /translation="MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAA
                     ASSTAPSTATAAAAALAYYRDAEAYRHSPVFQVYPLLNCMEGIPGGSPYAGWAYGKTG
                     LYPASTVCPTREDSPPQAVEDLDGKGSTSFLETLKTERLSPDLLTLGPALPSSLPVPN
                     SAYGGPDFSSTFFSPTGSPLNSAAYSSPKLRGTLPLPPCEARECVNCGATATPLWRRD
                     RTGHYLCNACGLYHKMNGQNRPLIRPKKRLIVSKRAGTQCTNCQTTTTTLWRRNASGD
                     PVCNACGLYYKLHQVNRPLTMRKDGIQTRNRKASGKGKKKRGSSLGGTGAAEGPAGGF
                     MVVAGGSGSGNCGEVASGLTLGPPGTAHLYQGLGPVVLSGPVSHLMPFPGPLLGSPTG
                     SFPTGPMPPTTSTTVVAPLSS"
     exon            296..673
                     /gene="GATA1"
                     /gene_synonym="CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA;
                     NF-E1; NFE1; XLANP; XLTDA; XLTT"
                     /inference="alignment:Splign:2.1.0"
     exon            674..819
                     /gene="GATA1"
                     /gene_synonym="CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA;
                     NF-E1; NFE1; XLANP; XLTDA; XLTT"
                     /inference="alignment:Splign:2.1.0"
     exon            820..945
                     /gene="GATA1"
                     /gene_synonym="CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA;
                     NF-E1; NFE1; XLANP; XLTDA; XLTT"
                     /inference="alignment:Splign:2.1.0"
     exon            946..1464
                     /gene="GATA1"
                     /gene_synonym="CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA;
                     NF-E1; NFE1; XLANP; XLTDA; XLTT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1441..1446
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GATA1"
                     /gene_synonym="CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA;
                     NF-E1; NFE1; XLANP; XLTDA; XLTT"
                     /note="hexamer: AATAAA"
     polyA_site      1464
                     /gene="GATA1"
                     /gene_synonym="CNSHA9; ERYF1; GATA-1; GF-1; GF1; HAEADA;
                     NF-E1; NFE1; XLANP; XLTDA; XLTT"
                     /note="major polyA site"
ORIGIN      
        1 acactgagct tgccacatcc ccaaggcggc cgaaccctcc gcaaccacca gcccaggtta
       61 atccccagag gctccatgga gttccctggc ctggggtccc tggggacctc agagcccctc
      121 ccccagtttg tggatcctgc tctggtgtcc tccacaccag aatcaggggt tttcttcccc
      181 tctgggcctg agggcttgga tgcagcagct tcctccactg ccccgagcac agccaccgct
      241 gcagctgcgg cactggccta ctacagggac gctgaggcct acagacactc cccagtcttt
      301 caggtgtacc cattgctcaa ctgtatggag gggatcccag ggggctcacc atatgccggc
      361 tgggcctacg gcaagacggg gctctaccct gcctcaactg tgtgtcccac ccgcgaggac
      421 tctcctcccc aggccgtgga agatctggat ggaaaaggca gcaccagctt cctggagact
      481 ttgaagacag agcggctgag cccagacctc ctgaccctgg gacctgcact gccttcatca
      541 ctccctgtcc ccaatagtgc ttatgggggc cctgactttt ccagtacctt cttttctccc
      601 accgggagcc ccctcaattc agcagcctat tcctctccca agcttcgtgg aactctcccc
      661 ctgcctccct gtgaggccag ggagtgtgtg aactgcggag caacagccac tccactgtgg
      721 cggagggaca ggacaggcca ctacctatgc aacgcctgcg gcctctatca caagatgaat
      781 gggcagaaca ggcccctcat ccggcccaag aagcgcctga ttgtcagtaa acgggcaggt
      841 actcagtgca ccaactgcca gacgaccacc acgacactgt ggcggagaaa tgccagtggg
      901 gatcccgtgt gcaatgcctg cggcctctac tacaagctac accaggtgaa ccggccactg
      961 accatgcgga aggatggtat tcagactcga aaccgcaagg catctggaaa agggaaaaag
     1021 aaacggggct ccagtctggg aggcacagga gcagccgaag gaccagctgg tggctttatg
     1081 gtggtggctg ggggcagcgg tagcgggaat tgtggggagg tggcttcagg cctgacactg
     1141 ggccccccag gtactgccca tctctaccaa ggcctgggcc ctgtggtgct gtcagggcct
     1201 gttagccacc tcatgccttt ccctggaccc ctactgggct cacccacggg ctccttcccc
     1261 acaggcccca tgccccccac caccagcact actgtggtgg ctccgctcag ctcatgaggg
     1321 cacagagcat ggcctccaga ggaggggtgg tgtccttctc ctcttgtagc cagaattctg
     1381 gacaacccaa gtctctgggc cccaggcacc ccctggcttg aaccttcaaa gcttttgtaa
     1441 aataaaacca ccaaagtcct gaaa
//
