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Juxtaposed with another zinc finger protein 1 (TAK1-interacting protein 27) (Zinc finger protein 802)

 JAZF1_HUMAN             Reviewed;         243 AA.
Q86VZ6; A4D195; Q8N3L7;
11-JUL-2003, integrated into UniProtKB/Swiss-Prot.
11-JUL-2003, sequence version 2.
28-MAR-2018, entry version 139.
RecName: Full=Juxtaposed with another zinc finger protein 1;
AltName: Full=TAK1-interacting protein 27;
AltName: Full=Zinc finger protein 802;
Name=JAZF1; Synonyms=TIP27, ZNF802;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH
NR2C2, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND MUTAGENESIS OF
LYS-47; TYR-60; ALA-69 AND LEU-76.
PubMed=15302918; DOI=10.1093/nar/gkh741;
Nakajima T., Fujino S., Nakanishi G., Kim Y.S., Jetten A.M.;
"TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4.";
Nucleic Acids Res. 32:4194-4204(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12690205; DOI=10.1126/science.1083423;
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
Kanematsu E., Gentles S., Christopoulos C.C., Choufani S.,
Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z.,
Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C.,
Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J.,
Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F.,
Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F.,
Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H.,
Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G.,
Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P.,
Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J.,
Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F.,
Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B.,
Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W.,
Mural R.J., Adams M.D., Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain, and Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Amygdala;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[6]
DISEASE, AND CHROMOSOMAL TRANSLOCATION WITH SUZ12.
PubMed=11371647; DOI=10.1073/pnas.101132598;
Koontz J.I., Soreng A.L., Nucci M., Kuo F.C., Pauwels P.,
van Den Berghe H., Cin P.D., Fletcher J.A., Sklar J.;
"Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal
tumors.";
Proc. Natl. Acad. Sci. U.S.A. 98:6348-6353(2001).
[7]
DISEASE, AND CHROMOSOMAL TRANSLOCATION WITH PHF1.
PubMed=16397222; DOI=10.1158/0008-5472.CAN-05-2485;
Micci F., Panagopoulos I., Bjerkehagen B., Heim S.;
"Consistent rearrangement of chromosomal band 6p21 with generation of
fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal
sarcoma.";
Cancer Res. 66:107-112(2006).
[8]
TRANS-SPLICING.
PubMed=18772439; DOI=10.1126/science.1156725;
Li H., Wang J., Mor G., Sklar J.;
"A neoplastic gene fusion mimics trans-splicing of RNAs in normal
human cells.";
Science 321:1357-1361(2008).
[9]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-113, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
-!- FUNCTION: Acts as a transcriptional corepressor of orphan nuclear
receptor NR2C2 (PubMed:15302918). Inhibits expression of the
gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity
(By similarity). Also involved in transcriptional activation of
NAMPT by promoting expression of PPARA and PPARD (By similarity).
Plays a role in lipid metabolism by suppressing lipogenesis,
increasing lipolysis and decreasing lipid accumulation in adipose
tissue (By similarity). Plays a role in glucose homeostasis by
improving glucose metabolism and insulin sensitivity (By
similarity). {ECO:0000250|UniProtKB:Q80ZQ5,
ECO:0000269|PubMed:15302918}.
-!- SUBUNIT: Interacts with NR2C2 (via ligand-binding region).
{ECO:0000269|PubMed:15302918}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15302918}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q86VZ6-1; Sequence=Displayed;
Name=2;
IsoId=Q86VZ6-2; Sequence=VSP_007755;
Note=Incomplete sequence. No experimental confirmation
available.;
-!- TISSUE SPECIFICITY: Highest expression in testis with moderate
levels in colon, placenta, prostate and ovary and low levels in
brain, spleen, liver and small intestine.
{ECO:0000269|PubMed:15302918}.
-!- DISEASE: Note=A chromosomal aberration involving JAZF1 may be a
cause of endometrial stromal tumors. Translocation
t(7;17)(p15;q21) with SUZ12. The translocation generates the
JAZF1-SUZ12 oncogene consisting of the N-terminus part of JAZF1
and the C-terminus part of SUZ12. It is frequently found in all
cases of endometrial stromal tumors, except in endometrial stromal
sarcomas, where it is rarer. Translocation t(6;7)(p21;p22) with
PHF1. {ECO:0000269|PubMed:11371647, ECO:0000269|PubMed:16397222}.
-!- MISCELLANEOUS: Under hypoxic conditions, the precursor SUZ12 RNA
undergoes regulated trans-splicing with the JAZF1 RNA, resulting
in a chimeric isoform which may be protective against apoptosis.
The chimeric transcript is characterized by JAZF1 exons 1-3 joined
to SUZ12 exon 2-16. The chimeric transcript is expressed primarily
in the endometrium from late secretory and early proliferative
phases of the menstrual cycle, but not in normal myometrium at any
phase of the cycle. Its expression is slightly induced by low
levels of progesterone, but suppressed by both estrogen and high
levels of progesterone (PubMed:18772439).
{ECO:0000305|PubMed:18772439}.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/JAZF1ID41036ch7p15.html";
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; AY372319; AAQ74874.1; -; mRNA.
EMBL; AK091311; BAG52333.1; -; mRNA.
EMBL; CH236948; EAL24212.1; -; Genomic_DNA.
EMBL; BC042441; AAH42441.1; -; mRNA.
EMBL; AL834234; CAD38912.1; -; mRNA.
CCDS; CCDS5416.1; -. [Q86VZ6-1]
RefSeq; NP_778231.2; NM_175061.3. [Q86VZ6-1]
UniGene; Hs.368944; -.
ProteinModelPortal; Q86VZ6; -.
BioGrid; 128764; 13.
IntAct; Q86VZ6; 3.
STRING; 9606.ENSP00000283928; -.
iPTMnet; Q86VZ6; -.
PhosphoSitePlus; Q86VZ6; -.
BioMuta; JAZF1; -.
DMDM; 32699538; -.
EPD; Q86VZ6; -.
MaxQB; Q86VZ6; -.
PaxDb; Q86VZ6; -.
PeptideAtlas; Q86VZ6; -.
PRIDE; Q86VZ6; -.
DNASU; 221895; -.
Ensembl; ENST00000283928; ENSP00000283928; ENSG00000153814. [Q86VZ6-1]
GeneID; 221895; -.
KEGG; hsa:221895; -.
UCSC; uc003szn.4; human. [Q86VZ6-1]
CTD; 221895; -.
DisGeNET; 221895; -.
EuPathDB; HostDB:ENSG00000153814.11; -.
GeneCards; JAZF1; -.
HGNC; HGNC:28917; JAZF1.
HPA; CAB019271; -.
HPA; HPA066967; -.
MalaCards; JAZF1; -.
MIM; 606246; gene.
neXtProt; NX_Q86VZ6; -.
OpenTargets; ENSG00000153814; -.
Orphanet; 536; Systemic lupus erythematosus.
PharmGKB; PA162392484; -.
eggNOG; KOG4124; Eukaryota.
eggNOG; COG5189; LUCA.
GeneTree; ENSGT00390000003635; -.
HOGENOM; HOG000252946; -.
HOVERGEN; HBG052161; -.
InParanoid; Q86VZ6; -.
KO; K19495; -.
OMA; HIEDIHI; -.
OrthoDB; EOG091G0WNP; -.
PhylomeDB; Q86VZ6; -.
TreeFam; TF324161; -.
SIGNOR; Q86VZ6; -.
ChiTaRS; JAZF1; human.
GeneWiki; JAZF1; -.
GenomeRNAi; 221895; -.
PRO; PR:Q86VZ6; -.
Proteomes; UP000005640; Chromosome 7.
Bgee; ENSG00000153814; -.
CleanEx; HS_JAZF1; -.
ExpressionAtlas; Q86VZ6; baseline and differential.
Genevisible; Q86VZ6; HS.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0001650; C:fibrillar center; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:HPA.
GO; GO:0017053; C:transcriptional repressor complex; IDA:MGI.
GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; NAS:NTNU_SB.
GO; GO:0003714; F:transcription corepressor activity; IDA:MGI.
GO; GO:0006629; P:lipid metabolic process; IEA:UniProtKB-KW.
GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:MGI.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
InterPro; IPR036236; Znf_C2H2_sf.
InterPro; IPR013087; Znf_C2H2_type.
SMART; SM00355; ZnF_C2H2; 3.
SUPFAM; SSF57667; SSF57667; 1.
PROSITE; PS00028; ZINC_FINGER_C2H2_1; 2.
1: Evidence at protein level;
Alternative splicing; Chromosomal rearrangement; Complete proteome;
Lipid metabolism; Metal-binding; Nucleus; Phosphoprotein;
Proto-oncogene; Reference proteome; Repeat; Transcription;
Transcription regulation; Zinc; Zinc-finger.
CHAIN 1 243 Juxtaposed with another zinc finger
protein 1.
/FTId=PRO_0000046985.
ZN_FING 12 37 C2H2-type 1.
ZN_FING 173 198 C2H2-type 2.
ZN_FING 208 230 C2H2-type 3; degenerate.
REGION 39 79 Required for interaction with NR2C2.
{ECO:0000269|PubMed:15302918}.
SITE 129 130 Breakpoint for translocation to form
JAZF1-SUZ12 oncogene.
MOD_RES 109 109 Phosphothreonine.
{ECO:0000250|UniProtKB:Q80ZQ5}.
MOD_RES 113 113 Phosphothreonine.
{ECO:0000244|PubMed:23186163}.
VAR_SEQ 1 38 MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHI ->
YFVLGSLIYSDAKSKKNRNCVFIT (in isoform 2).
{ECO:0000305}.
/FTId=VSP_007755.
MUTAGEN 47 47 K->P: Little effect on interaction with
NR2C2. {ECO:0000269|PubMed:15302918}.
MUTAGEN 60 60 Y->D: Abolishes interaction with NR2C2.
{ECO:0000269|PubMed:15302918}.
MUTAGEN 69 69 A->P: Little effect on interaction with
NR2C2. {ECO:0000269|PubMed:15302918}.
MUTAGEN 76 76 L->P: Reduces interaction with NR2C2.
{ECO:0000269|PubMed:15302918}.
CONFLICT 133 133 D -> G (in Ref. 4; AAH42441).
{ECO:0000305}.
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


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