LOCUS       NM_175061               3173 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.
ACCESSION   NM_175061
VERSION     NM_175061.4
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 3173)
  AUTHORS   Rosario,S.R., Jacobi,J.J., Long,M.D., Affronti,H.C., Rowsam,A.M.
            and Smiraglia,D.J.
  TITLE     JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted
            Therapy
  JOURNAL   Mol Cancer Res 21 (1), 24-35 (2023)
   PUBMED   36166196
  REMARK    GeneRIF: JAZF1: A Metabolic Regulator of Sensitivity to a
            Polyamine-Targeted Therapy.
REFERENCE   2  (bases 1 to 3173)
  AUTHORS   Dai,H., Qian,Y., Lv,H., Jiang,L., Jiang,H., Shen,M., Chen,H.,
            Chen,Y., Zheng,S., Fu,Q., Yang,T. and Xu,K.
  TITLE     Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates
            With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status,
            but Not Healthy Subjects
  JOURNAL   Front Endocrinol (Lausanne) 13, 898893 (2022)
   PUBMED   35846288
  REMARK    GeneRIF: Rs864745 in JAZF1, an Islet Function Associated Variant,
            Correlates With Plasma Lipid Levels in Both Type 1 and Type 2
            Diabetes Status, but Not Healthy Subjects.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3173)
  AUTHORS   Tavares,M., Khandelwal,G., Muter,J., Viiri,K., Beltran,M.,
            Brosens,J.J. and Jenner,R.G.
  TITLE     JAZF1-SUZ12 dysregulates PRC2 function and gene expression during
            cell differentiation
  JOURNAL   Cell Rep 39 (9), 110889 (2022)
   PUBMED   35649353
  REMARK    GeneRIF: JAZF1-SUZ12 dysregulates PRC2 function and gene expression
            during cell differentiation.
REFERENCE   4  (bases 1 to 3173)
  AUTHORS   Wongborisuth,C., Chumchuen,S., Sripichai,O., Anurathaphan,U.,
            Sathirapongsasuti,N., Songdej,D., Tangprasittipap,A. and Hongeng,S.
  TITLE     Down-regulation of the transcriptional repressor ZNF802 (JAZF1)
            reactivates fetal hemoglobin in beta0-thalassemia/HbE
  JOURNAL   Sci Rep 12 (1), 4952 (2022)
   PUBMED   35322124
  REMARK    GeneRIF: Down-regulation of the transcriptional repressor ZNF802
            (JAZF1) reactivates fetal hemoglobin in beta(0)-thalassemia/HbE.
            Erratum:[Sci Rep. 2022 Apr 13;12(1):6161. doi:
            10.1038/s41598-022-10541-0.. PMID: 35418591]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3173)
  AUTHORS   Alerasool,N., Leng,H., Lin,Z.Y., Gingras,A.C. and Taipale,M.
  TITLE     Identification and functional characterization of transcriptional
            activators in human cells
  JOURNAL   Mol Cell 82 (3), 677-695 (2022)
   PUBMED   35016035
REFERENCE   6  (bases 1 to 3173)
  AUTHORS   Nucci,M.R., Harburger,D., Koontz,J., Dal Cin,P. and Sklar,J.
  TITLE     Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and
            fluorescence in situ hybridization in endometrial stromal neoplasms
  JOURNAL   Am J Surg Pathol 31 (1), 65-70 (2007)
   PUBMED   17197920
  REMARK    GeneRIF: The JAZF1-JJAZ1 fusion is a frequent, although nonuniform,
            feature of endometrial stromal neoplasia.
REFERENCE   7  (bases 1 to 3173)
  AUTHORS   Micci,F., Panagopoulos,I., Bjerkehagen,B. and Heim,S.
  TITLE     Consistent rearrangement of chromosomal band 6p21 with generation
            of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal
            sarcoma
  JOURNAL   Cancer Res 66 (1), 107-112 (2006)
   PUBMED   16397222
REFERENCE   8  (bases 1 to 3173)
  AUTHORS   Nakajima,T., Fujino,S., Nakanishi,G., Kim,Y.S. and Jetten,A.M.
  TITLE     TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4
  JOURNAL   Nucleic Acids Res 32 (14), 4194-4204 (2004)
   PUBMED   15302918
  REMARK    GeneRIF: TIP27 (TAK1-interacting protein 27; sequence indentical to
            JAZF1) functions as a repressor of the nuclear orphan receptor
            TAK1/TR4.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3173)
  AUTHORS   Huang,H.Y., Ladanyi,M. and Soslow,R.A.
  TITLE     Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial
            stromal neoplasms with classic and variant histology: evidence for
            genetic heterogeneity
  JOURNAL   Am J Surg Pathol 28 (2), 224-232 (2004)
   PUBMED   15043312
  REMARK    GeneRIF: Endometrial stromal tumors(ESTs) are genetically
            heterogeneous, with prevalence of JAZF1-JJAZ1 fusion highest among
            ESTs of classic histology. Diagnostic utility of JAZF1-JJAZ1 fusion
            transcript assay in ESTs may be limited to classic histologic
            subset.
REFERENCE   10 (bases 1 to 3173)
  AUTHORS   Koontz,J.I., Soreng,A.L., Nucci,M., Kuo,F.C., Pauwels,P., van Den
            Berghe,H., Dal Cin,P., Fletcher,J.A. and Sklar,J.
  TITLE     Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal
            tumors
  JOURNAL   Proc Natl Acad Sci U S A 98 (11), 6348-6353 (2001)
   PUBMED   11371647
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA864624.1, AK091311.1,
            BC047229.1 and BC042441.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_175061.3.
            
            Summary: This gene encodes a nuclear protein with three C2H2-type
            zinc fingers, and functions as a transcriptional repressor.
            Chromosomal aberrations involving this gene are associated with
            endometrial stromal tumors. Alternatively spliced variants which
            encode different protein isoforms have been described; however, not
            all variants have been fully characterized [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 :: BC047229.1, AK091311.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283928.10/ ENSP00000283928.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-81                DA864624.1         24-104
            82-190              AK091311.1         30-138
            191-3133            BC047229.1         1-2943
            3134-3173           BC042441.1         2946-2985
FEATURES             Location/Qualifiers
     source          1..3173
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.2-p15.1"
     gene            1..3173
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
                     /note="JAZF zinc finger 1"
                     /db_xref="GeneID:221895"
                     /db_xref="HGNC:HGNC:28917"
                     /db_xref="MIM:606246"
     exon            1..333
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
                     /inference="alignment:Splign:2.1.0"
     CDS             219..950
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
                     /note="TAK1-interacting protein 27; juxtaposed with
                     another zinc finger gene 1; zinc finger protein 802"
                     /codon_start=1
                     /product="juxtaposed with another zinc finger protein 1"
                     /protein_id="NP_778231.2"
                     /db_xref="CCDS:CCDS5416.1"
                     /db_xref="GeneID:221895"
                     /db_xref="HGNC:HGNC:28917"
                     /db_xref="MIM:606246"
                     /translation="MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHIDTDPRV
                     LEKQELQQPTYVALSYINRFMTDAARREQESLKKKIQPKLSLTLSSSVSRGNVSTPPR
                     HSSGSLTPPVTPPITPSSSFRSSTPTGSEYDEEEVDYEESDSDESWTTESAISSEAIL
                     SSMCMNGGEEKPFACPVPGCKKRYKNVNGIKYHAKNGHRTQIRVRKPFKCRCGKSYKT
                     AQGLRHHTINFHPPVSAEIIRKMQQ"
     exon            334..406
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
                     /inference="alignment:Splign:2.1.0"
     exon            407..603
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
                     /inference="alignment:Splign:2.1.0"
     exon            604..773
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
                     /inference="alignment:Splign:2.1.0"
     exon            774..3173
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1227..1232
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
                     /note="hexamer: AATAAA"
     polyA_site      1249
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
     regulatory      3150..3155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
                     /note="hexamer: AATAAA"
     polyA_site      3173
                     /gene="JAZF1"
                     /gene_synonym="TIP27; ZNF802"
                     /note="major polyA site"
ORIGIN      
        1 gccgcagccg ccgcctcccc tctgcctccc ggtggctcct cgctctcctt ccatctctct
       61 cgccccctct ccctccgtcc cgtcctcgcc gctcccctca ccccgcctct ctccccctcc
      121 cccagcccct cctctcctca ccccacccgg cctccctccc tccctcgccc gcccggcgct
      181 cgcagagccg acaccagggg ggctctcgat gtagcaccat gacaggcatc gccgccgcct
      241 ccttcttctc caatacctgc cgattcgggg gctgcggact ccacttcccc accctggccg
      301 acctcatcga gcacatcgag gacaaccaca tcgatacaga tccacgggtt ttagaaaaac
      361 aagaattaca gcagccaacc tatgttgccc tgagttacat aaatagattc atgacagatg
      421 ctgcccgccg agagcaggag tccctaaaga agaagattca gccgaagctc tcgctgactc
      481 tgtccagctc agtgtctcga gggaatgtgt ccactccccc acgccacagc agtggaagcc
      541 ttactccccc cgtgacccca cccatcaccc cctcctcttc attccgcagc agcactccga
      601 caggcagcga gtatgacgag gaggaggtgg actatgagga gtcggacagc gatgagtcct
      661 ggaccacaga gagtgccatc agctccgaag ccatcctcag ctccatgtgc atgaatggag
      721 gggaagagaa gccttttgcc tgcccagttc ctggatgtaa aaagagatac aagaatgtga
      781 atggcataaa gtatcacgct aagaatggtc acagaacaca gattcgtgtc cgcaaaccat
      841 tcaagtgtcg ctgtgggaag agttacaaga cagctcaggg cctgcggcac cacacaatca
      901 atttccatcc cccggtgtcg gctgagatta tcaggaagat gcagcaataa catgctggtc
      961 ataactgtgc caagaaatcc tcaccagcag ttgctgattt tgaaaacagc cacctttttt
     1021 caggggaagc attcagcaac cctttaaaga aaaagaatta aatgcatgct ttaaattttt
     1081 tctgtaattt tggaatgatg tatctttgta gagttaatga ttttgtacat ttgcacatgt
     1141 aatcatcata cccattttca ttactttgat ataaggtgct aaacaaaaaa agctctaggt
     1201 tcttcagcac atttccccca aaacaaaata aaattgaggg catgttgcat attgttgaat
     1261 tgtattgcgg tggtatcaac ctggggggag gaggggctgg cactgagatt tttttttcaa
     1321 gattgtaatg tgattgaagt tttcaacaca tcaactcaca tatgttcaaa accaaaataa
     1381 taccttcatt atcaaactgg ttaccatgcc ttacataatg gagttagtat ttgtgagtag
     1441 aaagacttta ggtaatggaa atataaataa gaaagaatgt ttaacataat atgctaaaaa
     1501 tattttcata tttaaataac atacgtaaag gtgtgctttc tgtgttttat attatcttgc
     1561 aaatcctttt gccctttaaa aagctgaaaa tcttgccatc tgacttacta gtcattttag
     1621 tgttataaat ggcattttgt acaaaatagt ctattcagtt cgttcattca tttaacacac
     1681 attgattgag tgcctgctgg gtacaaggga ttcaatttat gcctattgat atctgcggac
     1741 caagataccc atttagtgaa atactttttt ccctgaaatc tgttagaaaa gactttgaaa
     1801 tacttcagtg caaagtgtgt gtgtgtgaag tttagttata tcttcatctt cagatgaagt
     1861 tttaaagcac tttgtagttc tctattgcca acaatttaat gtttatgtgt tgccaattct
     1921 tgcaaccact gccctaccaa acctgtgggt tgcaaatcag aactaaaatt ctaagcacgt
     1981 ttcaaagatg aacacttttg ttaagacccc tattgcctct tcttcatgct cattttttac
     2041 tttttttaaa aggtactttt ctcatcacat tgtagagagg tctgcattct cattggaaat
     2101 gtctgtttag ctttataaaa caaacacttt gctgaaatag gaaaatgagc cttattgaca
     2161 attaagtgct tcttgcagca ggtggtcaaa gaaaagcatg actaatacga cctattagag
     2221 taatctacat ctggaccatt ccttaagttt ttcctcaccg acagtaccat catgccttga
     2281 gtgttctttt ctcccaagtg ctattcctta aacacgagag tttaccagtt gcctaataat
     2341 gcaataaaaa atgctttgag atagctaact gcccataaaa caaactcaaa ttgcttataa
     2401 agtttcttcc catgttccca tttgatgaaa agtcttacat cacatataac tgggaagcag
     2461 gggtccctcc tcaattttca gacattttga aaggatgaca gttctgtttg ttagatgagt
     2521 aaacctctat attcataagt tctaaaatcc ttcattatga gggattcaaa gtatttataa
     2581 aaacactgcc ctctaaaaat ttcctcagat ctgaagtatg gtcttggtcc tgaatataca
     2641 gtgttatcct atgtttaaaa gggtgatcca gacatgagac gcaactagtt ggtgcataag
     2701 aaggccccac ttggctattt catatctacc tacaattgac caaaaaaaat tttttaggcc
     2761 agcaattatt atttagcttc gctctttcta gtgcaagaaa ctgcaggctg gatcagtagt
     2821 tcaacagcta aacagtcata aaatagtcat tgtgcatgtt aaatttcttt caatgctttc
     2881 aaagataaat tccaatttct atttacttat tcattgtgac agtattacta aacaggtaag
     2941 gatgggaata ttttgttata ctgtgtatag tgaatgtatt gtactgtgtc tgtgaaaact
     3001 gtgctttaaa ttatattttc atatgttttg ttggggacag agcacattaa gtctgaaagc
     3061 aacagaggtt tgttttagaa ctgaaggcaa tttaatcaaa attcctgtca agaaaagctg
     3121 cttataaatg taaatgaaat cacatttaaa ataaactgcc tctgacccaa aaa
//
