LOCUS       NM_005263               4554 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens growth factor independent 1 transcriptional repressor
            (GFI1), transcript variant 1, mRNA.
ACCESSION   NM_005263
VERSION     NM_005263.5
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  (bases 1 to 4554)
  AUTHORS   Yao,Q., He,X., Wang,J., Liu,J., Zhang,Q., Zhang,J., Bo,Y. and Lu,L.
  TITLE     DLEU2/EZH2/GFI1 Axis Regulates the Proliferation and Apoptosis of
            Human Bone Marrow Mesenchymal Stem Cells
  JOURNAL   Crit Rev Eukaryot Gene Expr 34 (3), 61-71 (2024)
   PUBMED   38305289
  REMARK    GeneRIF: DLEU2/EZH2/GFI1 Axis Regulates the Proliferation and
            Apoptosis of Human Bone Marrow Mesenchymal Stem Cells.
REFERENCE   2  (bases 1 to 4554)
  AUTHORS   Patnana,P.K., Liu,L., Frank,D., Nimmagadda,S.C., Behrens,M.,
            Ahmed,H., Xie,X., Liebmann,M., Wei,L., Gerdemann,A., Thivakaran,A.,
            Humpf,H.U., Klotz,L., Dugas,M., Varghese,J., Trajkovic-Arsic,M.,
            Siveke,J.T., Hanenberg,H., Opalka,B., Duhrsen,U., Reinhardt,H.C.,
            Guenther,U., von Bubnoff,N. and Khandanpour,C.
  TITLE     Dose-dependent expression of GFI1 alters metabolism in the
            haematopoietic progenitors and MLL::AF9-induced leukaemic cells
  JOURNAL   Br J Haematol 202 (5), 1033-1048 (2023)
   PUBMED   37423893
  REMARK    GeneRIF: Dose-dependent expression of GFI1 alters metabolism in the
            haematopoietic progenitors and MLL::AF9-induced leukaemic cells.
REFERENCE   3  (bases 1 to 4554)
  AUTHORS   Wang,H., Lin,Z., Nian,Z., Zhang,W., Liu,W., Yan,F., Xiao,Z.,
            Wang,X., Zhang,Z., Ma,Z. and Liu,Z.
  TITLE     Hematopoietic transcription factor GFI1 promotes anchorage
            independence by sustaining ERK activity in cancer cells
  JOURNAL   J Clin Invest 132 (17) (2022)
   PUBMED   35819844
  REMARK    GeneRIF: Hematopoietic transcription factor GFI1 promotes anchorage
            independence by sustaining ERK activity in cancer cells.
REFERENCE   4  (bases 1 to 4554)
  AUTHORS   Kang,B., Zhang,T., Huang,K., Wang,T., Li,Y., Mai,Y., Li,J.,
            Dang,S., Zhang,Z., Huang,W., Wang,J., Gao,M., Wang,Y. and Pan,G.
  TITLE     GFI1 regulates chromatin state essential in human
            endothelial-to-haematopoietic transition
  JOURNAL   Cell Prolif 55 (5), e13244 (2022)
   PUBMED   35504619
  REMARK    GeneRIF: GFI1 regulates chromatin state essential in human
            endothelial-to-haematopoietic transition.
REFERENCE   5  (bases 1 to 4554)
  AUTHORS   Velinder,M., Singer,J., Bareyan,D., Meznarich,J., Tracy,C.M.,
            Fulcher,J.M., McClellan,D., Lucente,H., Franklin,S., Sharma,S. and
            Engel,M.E.
  TITLE     GFI1 functions in transcriptional control and cell fate
            determination require SNAG domain methylation to recruit LSD1
  JOURNAL   Biochem J 473 (19), 3355-3369 (2016)
   PUBMED   27480105
  REMARK    GeneRIF: combination of the sequence-specific and nonspecific
            DNA-binding modes of SATB1 should be advantageous in a search for
            target loci during transcriptional regulation
            Erratum:[Biochem J. 2017 Aug 11;474(17):2951. doi:
            10.1042/BCJ-2016-0558_COR.. PMID: 28801480]
REFERENCE   6  (bases 1 to 4554)
  AUTHORS   Botezatu,L., Michel,L.C., Makishima,H., Schroeder,T., Germing,U.,
            Haas,R., van der Reijden,B., Marneth,A.E., Bergevoet,S.M.,
            Jansen,J.H., Przychodzen,B., Wlodarski,M., Niemeyer,C.,
            Platzbecker,U., Ehninger,G., Unnikrishnan,A., Beck,D., Pimanda,J.,
            Hellstrom-Lindberg,E., Malcovati,L., Boultwood,J., Pellagatti,A.,
            Papaemmanuil,E., Le Coutre,P., Kaeda,J., Opalka,B., Moroy,T.,
            Duhrsen,U., Maciejewski,J. and Khandanpour,C.
  TITLE     GFI1(36N) as a therapeutic and prognostic marker for
            myelodysplastic syndrome
  JOURNAL   Exp Hematol 44 (7), 590-595 (2016)
   PUBMED   27080012
  REMARK    GeneRIF: GFI1(36S) homozygous patients exhibited a sustained
            response to treatment with hypomethylating agents, whereas
            GFI1(36N) patients had a poor sustained response to this therapy.
            Because allele status of GFI1(36N) is readily determined using
            basic molecular techniques, we propose inclusion of GFI1(36N)
            status in future prospective studies for MDS patients to better
            predict prognosis and guide therapeutic decisions.
REFERENCE   7  (bases 1 to 4554)
  AUTHORS   Person,R.E., Li,F.Q., Duan,Z., Benson,K.F., Wechsler,J.,
            Papadaki,H.A., Eliopoulos,G., Kaufman,C., Bertolone,S.J.,
            Nakamoto,B., Papayannopoulou,T., Grimes,H.L. and Horwitz,M.
  TITLE     Mutations in proto-oncogene GFI1 cause human neutropenia and target
            ELA2
  JOURNAL   Nat Genet 34 (3), 308-312 (2003)
   PUBMED   12778173
  REMARK    GeneRIF: Mutations in proto-oncogene GFI1 cause human neutropenia
            and target ELA2
REFERENCE   8  (bases 1 to 4554)
  AUTHORS   Rodel,B., Tavassoli,K., Karsunky,H., Schmidt,T., Bachmann,M.,
            Schaper,F., Heinrich,P., Shuai,K., Elsasser,H.P. and Moroy,T.
  TITLE     The zinc finger protein Gfi-1 can enhance STAT3 signaling by
            interacting with the STAT3 inhibitor PIAS3
  JOURNAL   EMBO J 19 (21), 5845-5855 (2000)
   PUBMED   11060035
REFERENCE   9  (bases 1 to 4554)
  AUTHORS   Roberts,T. and Cowell,J.K.
  TITLE     Cloning of the human Gfi-1 gene and its mapping to chromosome
            region 1p22
  JOURNAL   Oncogene 14 (8), 1003-1005 (1997)
   PUBMED   9051000
REFERENCE   10 (bases 1 to 4554)
  AUTHORS   Bell,D.W., Taguchi,T., Jenkins,N.A., Gilbert,D.J., Copeland,N.G.,
            Gilks,C.B., Zweidler-McKay,P., Grimes,H.L., Tsichlis,P.N. and
            Testa,J.R.
  TITLE     Chromosomal localization of a gene, GF1, encoding a novel zinc
            finger protein reveals a new syntenic region between man and
            rodents
  JOURNAL   Cytogenet Cell Genet 70 (3-4), 263-267 (1995)
   PUBMED   7789186
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104456.2, BE242676.1,
            DB129173.1, DA927584.1, AK123009.1, BQ336135.1 and AW086150.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005263.4.
            
            Summary: This gene encodes a nuclear zinc finger protein that
            functions as a transcriptional repressor. This protein plays a role
            in diverse developmental contexts, including hematopoiesis and
            oncogenesis. It functions as part of a complex along with other
            cofactors to control histone modifications that lead to silencing
            of the target gene promoters. Mutations in this gene cause
            autosomal dominant severe congenital neutropenia, and also dominant
            nonimmune chronic idiopathic neutropenia of adults, which are
            heterogeneous hematopoietic disorders that cause predispositions to
            leukemias and infections. Multiple alternatively spliced variants,
            encoding the same protein, have been identified for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2 and 3 encode the same protein.
            
            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 :: SRR14038196.1533516.1,
                                           SRR14038192.2729114.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000294702.6/ ENSP00000294702.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                AC104456.2         97680-97728         c
            50-82               BE242676.1         51-83
            83-130              AC104456.2         97599-97646         c
            131-230             BE242676.1         132-231
            231-689             DB129173.1         96-554
            690-1057            DA927584.1         214-581
            1058-1796           AK123009.1         1078-1816
            1797-1829           BQ336135.1         61-93               c
            1830-2835           AK123009.1         1850-2855
            2836-4450           AC104456.2         83950-85564         c
            4451-4552           AW086150.1         10-111              c
            4553-4554           AC104456.2         83846-83847         c
FEATURES             Location/Qualifiers
     source          1..4554
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     gene            1..4554
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /note="growth factor independent 1 transcriptional
                     repressor"
                     /db_xref="GeneID:2672"
                     /db_xref="HGNC:HGNC:4237"
                     /db_xref="MIM:600871"
     exon            1..200
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /inference="alignment:Splign:2.1.0"
     exon            201..414
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /inference="alignment:Splign:2.1.0"
     CDS             300..1568
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /note="growth factor independence-1; zinc finger protein
                     163; growth factor independent protein 1; growth factor
                     independent 1 transcription repressor"
                     /codon_start=1
                     /product="zinc finger protein Gfi-1"
                     /protein_id="NP_005254.2"
                     /db_xref="CCDS:CCDS30773.1"
                     /db_xref="GeneID:2672"
                     /db_xref="HGNC:HGNC:4237"
                     /db_xref="MIM:600871"
                     /translation="MPRSFLVKSKKAHSYHQPRSPGPDYSLRLENVPAPSRADSTSNA
                     GGAKAEPRDRLSPESQLTEAPDRASASPDSCEGSVCERSSEFEDFWRPPSPSASPASE
                     KSMCPSLDEAQPFPLPFKPYSWSGLAGSDLRHLVQSYRPCGALERGAGLGLFCEPAPE
                     PGHPAALYGPKRAAGGAGAGAPGSCSAGAGATAGPGLGLYGDFGSAAAGLYERPTAAA
                     GLLYPERGHGLHADKGAGVKVESELLCTRLLLGGGSYKCIKCSKVFSTPHGLEVHVRR
                     SHSGTRPFACEMCGKTFGHAVSLEQHKAVHSQERSFDCKICGKSFKRSSTLSTHLLIH
                     SDTRPYPCQYCGKRFHQKSDMKKHTFIHTGEKPHKCQVCGKAFSQSSNLITHSRKHTG
                     FKPFGCDLCGKGFQRKVDLRRHRETQHGLK"
     exon            415..597
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /inference="alignment:Splign:2.1.0"
     exon            598..1085
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1223
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1389
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..4554
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2560..2565
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /note="hexamer: AACAAA"
     polyA_site      2586
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /note="major polyA site"
     regulatory      2816..2821
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /note="hexamer: AATAAA"
     polyA_site      2833
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /note="major polyA site"
     regulatory      4534..4539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /note="hexamer: ATTAAA"
     polyA_site      4554
                     /gene="GFI1"
                     /gene_synonym="GFI-1; GFI1A; SCN2; ZNF163"
                     /note="major polyA site"
ORIGIN      
        1 agtcgaaggc tgagcggacc cggtcgagag ccggcgagct ccgcgcaggg agggtgcgcc
       61 caccggtccc gccgggcgcc cgcgggacgc gccgccaggg ccctctccgc cgggggctcg
      121 gcgctcgccc acctcttcca aatttaacca ttacctaaat ccgaagggaa atgagcaaac
      181 ctctcggatt gggtgtcaag gtctcctccg ggctggggct gagcaagccc tcggagtgac
      241 cgtgggtgac agcggctcca gggactcttg gggcgcagtg gggaaagtgc cggaccacca
      301 tgccgcgctc atttctcgtc aaaagcaaga aggctcacag ctaccaccag ccgcgctccc
      361 caggaccaga ctattccctc cgtttagaga atgtaccggc gcctagccga gcagacagca
      421 cttcaaatgc aggcggggcg aaggcggagc cccgggaccg tttgtccccc gaatcgcagc
      481 tgaccgaagc cccagacaga gcctccgcat ccccagacag ctgcgaaggc agcgtctgcg
      541 aacggagctc ggagtttgag gacttctgga ggcccccgtc accctccgcg tctccagcct
      601 cggagaagtc aatgtgccca tcgctggacg aagcccagcc cttccccctg cctttcaaac
      661 cgtactcatg gagcggcctg gcgggttctg acctgcggca cctggtgcag agctaccgac
      721 cgtgtggggc cctggagcgt ggcgctggcc tgggcctctt ctgcgaaccc gccccggagc
      781 ctggccaccc ggccgcgctg tacggcccga agcgggctgc cggcggcgcg ggggccgggg
      841 cgccagggag ctgcagcgca ggggccggtg ccaccgctgg ccctggccta gggctctacg
      901 gcgacttcgg gtctgcggca gccgggctgt atgagaggcc cacggcagcg gcgggcttgc
      961 tgtaccccga gcgtggccac gggctgcacg cagacaaggg cgctggcgtc aaggtggagt
     1021 cggagctgct gtgcacccgc ctgctgctgg gcggcggctc ctacaagtgc atcaagtgca
     1081 gcaaggtgtt ctccacgccg cacgggctcg aggtgcacgt gcgcaggtcc cacagcggta
     1141 ccagaccctt tgcctgcgag atgtgcggca agaccttcgg gcacgcggtg agcctggagc
     1201 agcacaaagc cgtgcactcg caggaacgga gctttgactg taagatctgt gggaagagct
     1261 tcaagaggtc atccacactg tccacacacc tgcttatcca ctcagacact cggccctacc
     1321 cctgtcagta ctgtggcaag aggttccacc agaagtcaga catgaagaaa cacactttca
     1381 tccacactgg tgagaagcct cacaagtgcc aggtgtgcgg caaggcattc agccagagct
     1441 ccaacctcat cacccacagc cgcaaacaca caggcttcaa gcccttcggc tgcgacctct
     1501 gtgggaaggg tttccagagg aaggtggacc tccgaaggca ccgggagacg cagcatgggc
     1561 tcaaatgagc accctggctg gctgcaagca gcagctacac aacactacag agggcagcct
     1621 ccctgcttgc caccactctg ctccctgctt gcctccactc ccttctgact ttccagaccc
     1681 caggtccagt ctgcagatcc taccaggttg ctcctccttc gccttacctc ctggagctgc
     1741 cagaagaaat gaggtacctt ttcaaagtgc agccgagagt gagaaccaag tgactctcta
     1801 ggcttcggac acaaataggc tcctctacac ctgaagacaa aggcaaagtc aaatggggac
     1861 cagaataaat cttagacccc acagtccttc ccatttccag ccctaatcta cagacaggaa
     1921 tgcccttcag gtttcttccc tcccccctct tgacctaccc cagatatttg tgtggaagag
     1981 gaggaatcac catttacaag gtggacaaat gctaatattt ttatctagaa agaagagtga
     2041 gtgttaactt ttattttttt ccttctgggg ggtctgttga ctcctttctt ttgggtgctg
     2101 cctataaatc ttggaggaat catttctcct cctcaaaaac tgattcagaa actgacttgg
     2161 ggaaggaatt taatactttg aagtcatgag atgcaccatc gaggctaccc ccaagaagaa
     2221 gcagaagaga agttggtaat gagaggggat tagaggtcct cccttcagta gggctgtgaa
     2281 aacctcatca ctggaggtaa aagcacaagc aatgcctgtg gacaagatgt cattcattca
     2341 ctcagcaaat gttcatggat caccggctac caaggtacca ggcaccatgc taggtattgg
     2401 ggaagagaga ctgaagtcac aacccctgac tgctcctcaa aagctaacgg ttgcacctcc
     2461 aagtggctgg gtctgttctt actcttggag ggaattctga gaagacagca cagaattgta
     2521 aaccttccct tttgaccctt ttggatttta tcaggtgtaa acaaaaagct gaacagttac
     2581 ttcaaagata tgtgtgtata ttcagttttt tattgttaag ctgatatttt aaagatttct
     2641 gagctagcag gcatgtggga aggaaggctc tgtcttcaac tctttgaccc tccatgtgta
     2701 ccatagaggg gggaaaggtg gtattttcac tttgatgagg ttggtaaatg tttttagatc
     2761 ttctggtaag cattatgttt gttaatacat atttattaga gtgatgtttt aagttaataa
     2821 agtattaaga gtattacaga ttgcctttcc tttaggcagg gaatttgggg aagacctttg
     2881 ttttagtctg tagggggaaa gctggcactg aaggaaactg caatggagta taaaagtgaa
     2941 gcacacaagc taatatccag aagagtaaaa tccaattgct cgggtttcca tatactttct
     3001 cctttgctgc tacacctcag agatacttct ttcatcttct ttcataagag aaaaactagg
     3061 aggtgtacaa aactaagcta ctaccttgta gagcccctga tggttccaca ggcacgtaag
     3121 taagctcttt cctctgaaaa tgtcaacata tttttttagg ggcctgaagg ctcccagatg
     3181 aataaagaaa tcacaggtct taggtctagg ttttagtttt agtcacagct ctgtcaccaa
     3241 cacatcatgt gacttgtgta aatcttttga cttccccgat actggtttcc ttgatcaagt
     3301 aatacggaga cagctctgtc attcctgtcc aaccctgacc gctttgattc tgtggagact
     3361 ggaaaggaaa aaaagtgtga gattggttag ctgcctcccc taatgcaagt cacaaatcta
     3421 aaggcccatg aggatctggg ttatttctgg ttctgtccca cctgtgggag ttttttgcat
     3481 aagtcaatcc tttaagagaa tgaaaccaga ataaaatcct ggccaaaatc cctactacta
     3541 gtgctttaac acctcccagc cagacattca gggtatgcat gccccatggt gagaaccagc
     3601 agattgccca tttccaactc aaattgattt cacacatata attgagcacc cagtatgtgc
     3661 tgggcattct tctagggggt ggagatatag cagtgaggac aatgtcttac gaagctttat
     3721 ttattcattg ttgaatcctc agttcccaga atagtgcctg gcacacagta ggagattaat
     3781 aaatatttac tgagatgtta agtgaataaa cagaaaataa gctcctgctt catcctaggg
     3841 cctggctctg ctctctacag cacaaaggga agagagattg cttgacagcc tgggaaacaa
     3901 atagaatcca cacgactttc tctccaggtt ggcaggaaag gggggcttga atgctgcttt
     3961 tctctggttt ctccaaatct cagtccttgg ctgtcctcac ctgatttcca gcaccatgtc
     4021 tttccatgtc agtttactct cattcagaat ttaaattcgt ttactctgta atggagttta
     4081 agatagtttt tcagaactga tggatgatga acagttgcag cgtccaggaa ccacttccta
     4141 gtgtcctggg agacaatcct cccagtgaat gaaaatgaca aaaacatcct tcccacagaa
     4201 gtcaccctgt gtactggttg gttatttcca acctggtttg aaaagtaaag aagttgcact
     4261 gaggggtaag tagaactgat tgaaatctag gtgcctgtgc tgtcctgctc ttcccttatg
     4321 acgtttagaa catttggtcc atttttgtta tccctgttta tgctctaagt gaggaattgt
     4381 aattttgatg ttaactgtat gccttttttt tttttttttg gtaaaaaatg tatcttgata
     4441 tccccagttc agaatcaaaa caaattactg tgcctgttac cgtgtgaaat ttgaagattg
     4501 caaatatctc tcttaatgtt attacttgac tccattaaaa atagattgtg aata
//
