LOCUS       NM_001377304            1798 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens growth factor independent 1B transcriptional repressor
            (GFI1B), transcript variant 4, mRNA.
ACCESSION   NM_001377304
VERSION     NM_001377304.1
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 1798)
  AUTHORS   Zaninetti,C., Rivera,J., Vater,L., Ohlenforst,S., Leinoe,E.,
            Bockelmann,D., Freson,K., Thiele,T., Makhloufi,H., Rath,M.,
            Eberl,W., Wolff,M., Freyer,C., Wesche,J., Zieger,B., Felbor,U.,
            Heidel,F.H. and Greinacher,A.
  TITLE     Aggregates of nonmuscular myosin IIA in erythrocytes associate with
            GATA1- and GFI1B-related thrombocytopenia
  JOURNAL   J Thromb Haemost 22 (4), 1179-1186 (2024)
   PUBMED   38103735
  REMARK    GeneRIF: Aggregates of nonmuscular myosin IIA in erythrocytes
            associate with GATA1- and GFI1B-related thrombocytopenia.
REFERENCE   2  (bases 1 to 1798)
  AUTHORS   Venhuizen,J., van Bergen,M.G.J.M., Bergevoet,S.M., Gilissen,D.,
            Spruijt,C.G., Wingens,L., van den Akker,E., Vermeulen,M.,
            Jansen,J.H., Martens,J.H.A. and van der Reijden,B.A.
  TITLE     GFI1B and LSD1 repress myeloid traits during megakaryocyte
            differentiation
  JOURNAL   Commun Biol 7 (1), 374 (2024)
   PUBMED   38548886
  REMARK    GeneRIF: GFI1B and LSD1 repress myeloid traits during megakaryocyte
            differentiation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1798)
  AUTHORS   Suurmeijer,A.J.H., Cleven,A.H.G., Antonescu,C.R., Duckworth,L.A.,
            Fritchie,K.J., Billings,S.D. and Dermawan,J.K.
  TITLE     Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue
  JOURNAL   Histopathology 83 (6), 959-966 (2023)
   PUBMED   37680034
  REMARK    GeneRIF: Novel EWSR1::GFI1B gene fusion in angiofibroma of soft
            tissue.
REFERENCE   4  (bases 1 to 1798)
  AUTHORS   Liu,L., Patnana,P.K., Xie,X., Frank,D., Nimmagadda,S.C., Su,M.,
            Zhang,D., Koenig,T., Rosenbauer,F., Liebmann,M., Klotz,L., Xu,W.,
            Vorwerk,J., Neumann,F., Huve,J., Unger,A., Okun,J.G., Opalka,B. and
            Khandanpour,C.
  TITLE     GFI1B acts as a metabolic regulator in hematopoiesis and acute
            myeloid leukemia
  JOURNAL   Leukemia 36 (9), 2196-2207 (2022)
   PUBMED   35804097
  REMARK    GeneRIF: GFI1B acts as a metabolic regulator in hematopoiesis and
            acute myeloid leukemia.
REFERENCE   5  (bases 1 to 1798)
  AUTHORS   Chakraborty,M., Das,R.K., Samal,S., Das,S. and Alone,D.P.
  TITLE     Fuchs Endothelial Corneal Dystrophy associated risk variant,
            rs3768617 in LAMC1 shows allele specific binding of GFI1B
  JOURNAL   Gene 817, 146179 (2022)
   PUBMED   35031421
  REMARK    GeneRIF: Fuchs Endothelial Corneal Dystrophy associated risk
            variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B.
REFERENCE   6  (bases 1 to 1798)
  AUTHORS   Stevenson,W.S., Morel-Kopp,M.C., Chen,Q., Liang,H.P.,
            Bromhead,C.J., Wright,S., Turakulov,R., Ng,A.P., Roberts,A.W.,
            Bahlo,M. and Ward,C.M.
  TITLE     GFI1B mutation causes a bleeding disorder with abnormal platelet
            function
  JOURNAL   J Thromb Haemost 11 (11), 2039-2047 (2013)
   PUBMED   23927492
  REMARK    GeneRIF: a mutation in GFI1B causes a platelet disorder; GFI1B has
            a role a critical regulator of platelet shape, number, and function
REFERENCE   7  (bases 1 to 1798)
  AUTHORS   McGhee,L., Bryan,J., Elliott,L., Grimes,H.L., Kazanjian,A.,
            Davis,J.N. and Meyers,S.
  TITLE     Gfi-1 attaches to the nuclear matrix, associates with ETO (MTG8)
            and histone deacetylase proteins, and represses transcription using
            a TSA-sensitive mechanism
  JOURNAL   J Cell Biochem 89 (5), 1005-1018 (2003)
   PUBMED   12874834
REFERENCE   8  (bases 1 to 1798)
  AUTHORS   Osawa,M., Yamaguchi,T., Nakamura,Y., Kaneko,S., Onodera,M.,
            Sawada,K., Jegalian,A., Wu,H., Nakauchi,H. and Iwama,A.
  TITLE     Erythroid expansion mediated by the Gfi-1B zinc finger protein:
            role in normal hematopoiesis
  JOURNAL   Blood 100 (8), 2769-2777 (2002)
   PUBMED   12351384
  REMARK    GeneRIF: This zinc finger protein mediates erythroid expansion and
            has a role in normal erythropoiesis
REFERENCE   9  (bases 1 to 1798)
  AUTHORS   Rodel,B., Wagner,T., Zornig,M., Niessing,J. and Moroy,T.
  TITLE     The human homologue (GFI1B) of the chicken GFI gene maps to
            chromosome 9q34.13-A locus frequently altered in hematopoietic
            diseases
  JOURNAL   Genomics 54 (3), 580-582 (1998)
   PUBMED   9878267
REFERENCE   10 (bases 1 to 1798)
  AUTHORS   Tong,B., Grimes,H.L., Yang,T.Y., Bear,S.E., Qin,Z., Du,K.,
            El-Deiry,W.S. and Tsichlis,P.N.
  TITLE     The Gfi-1B proto-oncoprotein represses p21WAF1 and inhibits myeloid
            cell differentiation
  JOURNAL   Mol Cell Biol 18 (5), 2462-2473 (1998)
   PUBMED   9566867
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL593851.6.
            
            Summary: This gene encodes a zinc-finger containing transcriptional
            regulator that is primarily expressed in cells of hematopoietic
            lineage. The encoded protein complexes with numerous other
            transcriptional regulatory proteins including GATA-1, runt-related
            transcription factor 1 and histone deacetylases to control
            expression of genes involved in the development and maturation of
            erythrocytes and megakaryocytes. Mutations in this gene are the
            cause of the autosomal dominant platelet disorder, platelet-type
            bleeding disorder-17. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2014].
            
            Transcript Variant: This variant (4), as well as variant 1, encodes
            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 :: AY428733.1, SRR14038193.1262024.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372122.4/ ENSP00000361195.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-148               AL593851.6         25430-25577
            149-268             AL593851.6         33395-33514
            269-406             AL593851.6         34018-34155
            407-678             AL593851.6         34933-35204
            679-816             AL593851.6         35797-35934
            817-982             AL593851.6         36478-36643
            983-1798            AL593851.6         37608-38423
FEATURES             Location/Qualifiers
     source          1..1798
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     gene            1..1798
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /note="growth factor independent 1B transcriptional
                     repressor"
                     /db_xref="GeneID:8328"
                     /db_xref="HGNC:HGNC:4238"
                     /db_xref="MIM:604383"
     exon            1..148
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /inference="alignment:Splign:2.1.0"
     exon            149..268
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /inference="alignment:Splign:2.1.0"
     CDS             169..1161
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /note="isoform 1 is encoded by transcript variant 4;
                     growth factor independent 1B (potential regulator of
                     CDKN1A, translocated in CML); zinc finger protein Gfi-1b;
                     growth factor independent 1B transcription repressor"
                     /codon_start=1
                     /product="zinc finger protein Gfi-1b isoform 1"
                     /protein_id="NP_001364233.1"
                     /db_xref="CCDS:CCDS6957.1"
                     /db_xref="GeneID:8328"
                     /db_xref="HGNC:HGNC:4238"
                     /db_xref="MIM:604383"
                     /translation="MPRSFLVKSKKAHTYHQPRVQEDEPLWPPALTPVPRDQAPSNSP
                     VLSTLFPNQCLDWTNLKREPELEQDQNLARMAPAPEGPIVLSRPQDGDSPLSDSPPFY
                     KPSFSWDTLATTYGHSYRQAPSTMQSAFLEHSVSLYGSPLVPSTEPALDFSLRYSPGM
                     DAYHCVKCNKVFSTPHGLEVHVRRSHSGTRPFACDICGKTFGHAVSLEQHTHVHSQER
                     SFECRMCGKAFKRSSTLSTHLLIHSDTRPYPCQFCGKRFHQKSDMKKHTYIHTGEKPH
                     KCQVCGKAFSQSSNLITHSRKHTGFKPFSCELCTKGFQRKVDLRRHRESQHNLK"
     exon            269..406
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /inference="alignment:Splign:2.1.0"
     exon            407..678
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /inference="alignment:Splign:2.1.0"
     exon            679..816
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /inference="alignment:Splign:2.1.0"
     exon            817..982
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1798
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1779..1784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /note="hexamer: AATAAA"
     polyA_site      1798
                     /gene="GFI1B"
                     /gene_synonym="BDPLT17; ZNF163B"
                     /note="major polyA site"
ORIGIN      
        1 acacagagag acagagcaaa aaggagaagt atctatttgt gcaaagagtc acacagttga
       61 cagagtggag gccagtcccg agagaggctt tgcagttccc acctcgggaa gctccggcag
      121 aacccaggcg agggacagct ccggacaggt gtggggtgca cactgaaaat gccacgctcc
      181 ttcctggtga agagcaagaa ggctcacacc taccaccagc cccgtgtgca ggaagatgaa
      241 ccgctctggc ctcctgccct taccccggtg cccagagacc aggctccaag caacagccct
      301 gtccttagca ctctattccc aaaccagtgc ctggactgga ccaacctcaa acgagagccg
      361 gagctggagc aggaccagaa cttggccagg atggccccgg caccagaggg ccccattgtg
      421 ctgtcccgac cccaggatgg ggactctcca ctgtccgact cacccccatt ctacaagcct
      481 agcttctcct gggacacctt ggccacaacc tatggccaca gctaccggca ggccccctcc
      541 accatgcagt cagccttcct ggagcactcc gtcagcctgt acggcagtcc tcttgtgccc
      601 agcactgagc ccgccttgga cttcagcctc cgctactccc caggcatgga tgcgtaccac
      661 tgtgtgaagt gcaacaaggt cttctccacc cctcacgggc tcgaagtgca tgtgcgacgc
      721 tcccatagtg ggacccggcc cttcgcctgt gacatctgcg gcaaaacctt cggccacgct
      781 gtgagcctgg agcagcacac gcacgtccac tcccaggagc gcagcttcga gtgccgcatg
      841 tgcggcaagg ccttcaagcg ctcgtccacg ctgtccaccc acctgctcat ccactcagac
      901 acgcggccct acccctgcca gttctgcggc aagcgtttcc accagaagtc cgacatgaag
      961 aagcacacct acatccacac aggtgagaag ccgcacaagt gccaggtgtg cggaaaggcc
     1021 ttcagccaga gctccaacct catcacccac agccgcaagc acacaggctt caagcccttc
     1081 agctgtgagc tgtgcaccaa aggcttccag cgcaaggtgg acctgcggcg gcaccgcgag
     1141 agccagcaca atctcaagtg aggctgcgcc ggctcccagc tcctggccag cctgccctgc
     1201 ggtcctgtca cctggaggcc agcctcacat gcccaaatct ccagtctcct ggaggtggga
     1261 ctggacagga gtctaccagc ttgttttgag actcatgaaa ttgctgtgtg accttgggca
     1321 agtcacttac cctgtctgga tcaacatttc tcctgctgcc aagtgtggga gcctggctgg
     1381 gtctttctca gcagaagttg tttccaggtg tgctcaagtg ccttcctcta gcagagcaca
     1441 gaaagctaga atacccccag ggagacaggg atgccaagag tagaccagag ctgggaccca
     1501 cagacagaac ctccacctgc ctgctgccca ctgagctggg acctggtcac cttggatttt
     1561 agccggcctc tttctggcta taacaggcag agtcggagct gcctcccacc ccagtcagaa
     1621 gcctggcacc ccctctgctt cggccagatg tgctggctga ctccgacttc cgaccagcac
     1681 tcagctggcc tctggggatt ctagctccac aaccaggccg tgaggctgga gaaactggca
     1741 gttattgctg tcaaaagcct gttctctcaa ctgctgtcaa taaaattaaa gatacaga
//
