JAZF1_HUMAN
ID JAZF1_HUMAN Reviewed; 243 AA.
AC Q86VZ6; A4D195; Q8N3L7;
DT 11-JUL-2003, integrated into UniProtKB/Swiss-Prot.
DT 11-JUL-2003, sequence version 2.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Juxtaposed with another zinc finger protein 1 {ECO:0000305};
DE AltName: Full=TAK1-interacting protein 27;
DE AltName: Full=Zinc finger protein 802;
GN Name=JAZF1 {ECO:0000312|HGNC:HGNC:28917}; Synonyms=TIP27, ZNF802;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH NR2C2,
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND MUTAGENESIS OF LYS-47;
RP TYR-60; ALA-69 AND LEU-76.
RX PubMed=15302918; DOI=10.1093/nar/gkh741;
RA Nakajima T., Fujino S., Nakanishi G., Kim Y.S., Jetten A.M.;
RT "TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4.";
RL Nucleic Acids Res. 32:4194-4204(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP DISEASE, AND CHROMOSOMAL TRANSLOCATION WITH SUZ12.
RX PubMed=11371647; DOI=10.1073/pnas.101132598;
RA Koontz J.I., Soreng A.L., Nucci M., Kuo F.C., Pauwels P.,
RA van Den Berghe H., Cin P.D., Fletcher J.A., Sklar J.;
RT "Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal
RT tumors.";
RL Proc. Natl. Acad. Sci. U.S.A. 98:6348-6353(2001).
RN [7]
RP DISEASE, AND CHROMOSOMAL TRANSLOCATION WITH PHF1.
RX PubMed=16397222; DOI=10.1158/0008-5472.can-05-2485;
RA Micci F., Panagopoulos I., Bjerkehagen B., Heim S.;
RT "Consistent rearrangement of chromosomal band 6p21 with generation of
RT fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma.";
RL Cancer Res. 66:107-112(2006).
RN [8]
RP TRANS-SPLICING.
RX PubMed=18772439; DOI=10.1126/science.1156725;
RA Li H., Wang J., Mor G., Sklar J.;
RT "A neoplastic gene fusion mimics trans-splicing of RNAs in normal human
RT cells.";
RL Science 321:1357-1361(2008).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-113, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Acts as a transcriptional corepressor of orphan nuclear
CC receptor NR2C2 (PubMed:15302918). Inhibits expression of the
CC gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By
CC similarity). Also involved in transcriptional activation of NAMPT by
CC promoting expression of PPARA and PPARD (By similarity). Plays a role
CC in lipid metabolism by suppressing lipogenesis, increasing lipolysis
CC and decreasing lipid accumulation in adipose tissue (By similarity).
CC Plays a role in glucose homeostasis by improving glucose metabolism and
CC insulin sensitivity (By similarity). {ECO:0000250|UniProtKB:Q80ZQ5,
CC ECO:0000269|PubMed:15302918}.
CC -!- SUBUNIT: Interacts with NR2C2 (via ligand-binding region).
CC {ECO:0000269|PubMed:15302918}.
CC -!- INTERACTION:
CC Q86VZ6; Q8IZU0: FAM9B; NbExp=3; IntAct=EBI-11023753, EBI-10175124;
CC Q86VZ6; P49116: NR2C2; NbExp=8; IntAct=EBI-11023753, EBI-2652582;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15302918}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86VZ6-1; Sequence=Displayed;
CC Name=3;
CC IsoId=Q86VZ6-3; Sequence=VSP_061580;
CC -!- TISSUE SPECIFICITY: Highest expression in testis with moderate levels
CC in colon, placenta, prostate and ovary and low levels in brain, spleen,
CC liver and small intestine. {ECO:0000269|PubMed:15302918}.
CC -!- DISEASE: Note=A chromosomal aberration involving JAZF1 may be a cause
CC of endometrial stromal tumors. Translocation t(7;17)(p15;q21) with
CC SUZ12. The translocation generates the JAZF1-SUZ12 oncogene consisting
CC of the N-terminus part of JAZF1 and the C-terminus part of SUZ12. It is
CC frequently found in all cases of endometrial stromal tumors, except in
CC endometrial stromal sarcomas, where it is rarer. Translocation
CC t(6;7)(p21;p22) with PHF1. {ECO:0000269|PubMed:11371647,
CC ECO:0000269|PubMed:16397222}.
CC -!- MISCELLANEOUS: Under hypoxic conditions, the precursor SUZ12 RNA
CC undergoes regulated trans-splicing with the JAZF1 RNA, resulting in a
CC chimeric isoform which may be protective against apoptosis. The
CC chimeric transcript is characterized by JAZF1 exons 1-3 joined to SUZ12
CC exon 2-16. The chimeric transcript is expressed primarily in the
CC endometrium from late secretory and early proliferative phases of the
CC menstrual cycle, but not in normal myometrium at any phase of the
CC cycle. Its expression is slightly induced by low levels of
CC progesterone, but suppressed by both estrogen and high levels of
CC progesterone (PubMed:18772439). {ECO:0000305|PubMed:18772439}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD38912.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/JAZF1ID41036ch7p15.html";
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DR EMBL; AY372319; AAQ74874.1; -; mRNA.
DR EMBL; AK091311; BAG52333.1; -; mRNA.
DR EMBL; AL834234; CAD38912.1; ALT_INIT; mRNA.
DR EMBL; CH236948; EAL24212.1; -; Genomic_DNA.
DR EMBL; BC042441; AAH42441.1; -; mRNA.
DR CCDS; CCDS5416.1; -. [Q86VZ6-1]
DR RefSeq; NP_778231.2; NM_175061.3. [Q86VZ6-1]
DR AlphaFoldDB; Q86VZ6; -.
DR BioGRID; 128764; 31.
DR IntAct; Q86VZ6; 45.
DR STRING; 9606.ENSP00000283928; -.
DR iPTMnet; Q86VZ6; -.
DR PhosphoSitePlus; Q86VZ6; -.
DR BioMuta; JAZF1; -.
DR DMDM; 32699538; -.
DR EPD; Q86VZ6; -.
DR jPOST; Q86VZ6; -.
DR MassIVE; Q86VZ6; -.
DR MaxQB; Q86VZ6; -.
DR PaxDb; Q86VZ6; -.
DR PeptideAtlas; Q86VZ6; -.
DR PRIDE; Q86VZ6; -.
DR ProteomicsDB; 70098; -. [Q86VZ6-1]
DR Antibodypedia; 26034; 124 antibodies from 22 providers.
DR DNASU; 221895; -.
DR Ensembl; ENST00000283928.10; ENSP00000283928.5; ENSG00000153814.13. [Q86VZ6-1]
DR GeneID; 221895; -.
DR KEGG; hsa:221895; -.
DR MANE-Select; ENST00000283928.10; ENSP00000283928.5; NM_175061.4; NP_778231.2.
DR UCSC; uc003szn.4; human. [Q86VZ6-1]
DR CTD; 221895; -.
DR DisGeNET; 221895; -.
DR GeneCards; JAZF1; -.
DR HGNC; HGNC:28917; JAZF1.
DR HPA; ENSG00000153814; Tissue enhanced (adrenal).
DR MalaCards; JAZF1; -.
DR MIM; 606246; gene.
DR neXtProt; NX_Q86VZ6; -.
DR OpenTargets; ENSG00000153814; -.
DR Orphanet; 213711; Endometrial stromal sarcoma.
DR Orphanet; 536; Systemic lupus erythematosus.
DR PharmGKB; PA162392484; -.
DR VEuPathDB; HostDB:ENSG00000153814; -.
DR eggNOG; KOG4124; Eukaryota.
DR GeneTree; ENSGT00390000003635; -.
DR HOGENOM; CLU_077501_0_0_1; -.
DR InParanoid; Q86VZ6; -.
DR OMA; EHIEDTH; -.
DR OrthoDB; 1617085at2759; -.
DR PhylomeDB; Q86VZ6; -.
DR TreeFam; TF324161; -.
DR PathwayCommons; Q86VZ6; -.
DR SignaLink; Q86VZ6; -.
DR SIGNOR; Q86VZ6; -.
DR BioGRID-ORCS; 221895; 343 hits in 1075 CRISPR screens.
DR ChiTaRS; JAZF1; human.
DR GeneWiki; JAZF1; -.
DR GenomeRNAi; 221895; -.
DR Pharos; Q86VZ6; Tbio.
DR PRO; PR:Q86VZ6; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q86VZ6; protein.
DR Bgee; ENSG00000153814; Expressed in trabecular bone tissue and 181 other tissues.
DR ExpressionAtlas; Q86VZ6; baseline and differential.
DR Genevisible; Q86VZ6; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0001650; C:fibrillar center; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0017053; C:transcription repressor complex; IDA:MGI.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0003714; F:transcription corepressor activity; IDA:MGI.
DR GO; GO:0006629; P:lipid metabolic process; IEA:UniProtKB-KW.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:MGI.
DR InterPro; IPR030436; JAZF1.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR PANTHER; PTHR23057:SF1; PTHR23057:SF1; 1.
DR SMART; SM00355; ZnF_C2H2; 3.
DR SUPFAM; SSF57667; SSF57667; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Lipid metabolism;
KW Metal-binding; Nucleus; Phosphoprotein; Proto-oncogene; Reference proteome;
KW Repeat; Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..243
FT /note="Juxtaposed with another zinc finger protein 1"
FT /id="PRO_0000046985"
FT ZN_FING 12..37
FT /note="C2H2-type 1"
FT ZN_FING 173..198
FT /note="C2H2-type 2"
FT ZN_FING 208..230
FT /note="C2H2-type 3; degenerate"
FT REGION 39..79
FT /note="Required for interaction with NR2C2"
FT /evidence="ECO:0000269|PubMed:15302918"
FT REGION 89..151
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 89..106
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 131..147
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 129..130
FT /note="Breakpoint for translocation to form JAZF1-SUZ12
FT oncogene"
FT MOD_RES 109
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q80ZQ5"
FT MOD_RES 113
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..64
FT /note="Missing (in isoform 3)"
FT /id="VSP_061580"
FT MUTAGEN 47
FT /note="K->P: Little effect on interaction with NR2C2."
FT /evidence="ECO:0000269|PubMed:15302918"
FT MUTAGEN 60
FT /note="Y->D: Abolishes interaction with NR2C2."
FT /evidence="ECO:0000269|PubMed:15302918"
FT MUTAGEN 69
FT /note="A->P: Little effect on interaction with NR2C2."
FT /evidence="ECO:0000269|PubMed:15302918"
FT MUTAGEN 76
FT /note="L->P: Reduces interaction with NR2C2."
FT /evidence="ECO:0000269|PubMed:15302918"
FT CONFLICT 133
FT /note="D -> G (in Ref. 5; AAH42441)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 243 AA; 27079 MW; 878A6EE3D82C0588 CRC64;
MTGIAAASFF SNTCRFGGCG LHFPTLADLI EHIEDNHIDT DPRVLEKQEL QQPTYVALSY
INRFMTDAAR REQESLKKKI QPKLSLTLSS SVSRGNVSTP PRHSSGSLTP PVTPPITPSS
SFRSSTPTGS EYDEEEVDYE ESDSDESWTT ESAISSEAIL SSMCMNGGEE KPFACPVPGC
KKRYKNVNGI KYHAKNGHRT QIRVRKPFKC RCGKSYKTAQ GLRHHTINFH PPVSAEIIRK
MQQ
