Q86VZ6 (JAZF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Juxtaposed with another zinc finger protein 1

Alternative name(s):
TAK1-interacting protein 27
Zinc finger protein 802

Gene names

Name:	JAZF1
Synonyms:	TIP27, ZNF802

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	243 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Potential transcription factor.
Subunit structure	Interacts with TAK1.
Subcellular location	Nucleus Potential.
Involvement in 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. Ref.6
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 (Ref.7).
Sequence similarities	Contains 3 C2H2-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Proto-oncogene
Domain	Repeat Zinc-finger
Ligand	Metal-binding Zinc
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	negative regulation of transcription from RNA polymerase II promoter Inferred from direct assay. Source: MGI transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	transcriptional repressor complex Inferred from direct assay. Source: MGI
Molecular function	nucleic acid binding Inferred from electronic annotation. Source: InterPro transcription corepressor activity Inferred from direct assay. Source: MGI zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q86VZ6-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q86VZ6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHI → YFVLGSLIYSDAKSKKNRNCVFIT

Note: Incomplete sequence. No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 243	243	Juxtaposed with another zinc finger protein 1		PRO_0000046985
Regions
	Zinc finger	12 – 37	26	C2H2-type 1
	Zinc finger	173 – 198	26	C2H2-type 2
	Zinc finger	208 – 230	23	C2H2-type 3; degenerate
Sites
	Site	129 – 130	2	Breakpoint for translocation to form JAZF1-SUZ12 oncogene
Amino acid modifications
	Modified residue	109	1	Phosphothreonine Ref.8
	Modified residue	113	1	Phosphothreonine Ref.8
Natural variations
	Alternative sequence	1 – 38	38	MTGIA…EDNHI → YFVLGSLIYSDAKSKKNRNC VFIT in isoform 2.		VSP_007755
Experimental info
	Sequence conflict	133	1	D → G in AAH42441. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 11, 2003. Version 2. Checksum: 878A6EE3D82C0588	FASTA	243	27,079
	10 20 30 40 50 60 MTGIAAASFF SNTCRFGGCG LHFPTLADLI EHIEDNHIDT DPRVLEKQEL QQPTYVALSY 70 80 90 100 110 120 INRFMTDAAR REQESLKKKI QPKLSLTLSS SVSRGNVSTP PRHSSGSLTP PVTPPITPSS 130 140 150 160 170 180 SFRSSTPTGS EYDEEEVDYE ESDSDESWTT ESAISSEAIL SSMCMNGGEE KPFACPVPGC 190 200 210 220 230 240 KKRYKNVNGI KYHAKNGHRT QIRVRKPFKC RCGKSYKTAQ GLRHHTINFH PPVSAEIIRK MQQ
	Isoform 2 [UniParc]. Checksum: 95A86EBE30C39FC8	FASTA	229	25,739
	10 20 30 40 50 60 YFVLGSLIYS DAKSKKNRNC VFITDTDPRV LEKQELQQPT YVALSYINRF MTDAARREQE 70 80 90 100 110 120 SLKKKIQPKL SLTLSSSVSR GNVSTPPRHS SGSLTPPVTP PITPSSSFRS STPTGSEYDE 130 140 150 160 170 180 EEVDYEESDS DESWTTESAI SSEAILSSMC MNGGEEKPFA CPVPGCKKRY KNVNGIKYHA 190 200 210 220 KNGHRTQIRV RKPFKCRCGK SYKTAQGLRH HTINFHPPVS AEIIRKMQQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"TIP27: a novel repressor of the nuclear orphan receptor TAK1." Nakajima T., Jetten A.M. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." 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. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"Human chromosome 7: DNA sequence and biology." 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. Science 300:767-772(2003) [PubMed: 12690205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain and Testis.
[5]	"The full-ORF clone resource of the German cDNA consortium." 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. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Amygdala.
[6]	"Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors." 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. Proc. Natl. Acad. Sci. U.S.A. 98:6348-6353(2001) [PubMed: 11371647] [Abstract] Cited for: DISEASE, CHROMOSOMAL TRANSLOCATION WITH SUZ12.
[7]	"A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells." Li H., Wang J., Mor G., Sklar J. Science 321:1357-1361(2008) [PubMed: 18772439] [Abstract] Cited for: TRANS-SPLICING.
[8]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-109 AND THR-113, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY372319 mRNA. Translation: AAQ74874.1. AK091311 mRNA. Translation: BAG52333.1. CH236948 Genomic DNA. Translation: EAL24212.1. BC042441 mRNA. Translation: AAH42441.1. AL834234 mRNA. Translation: CAD38912.1.
IPI	IPI00329030. IPI00745862.
RefSeq	NP_778231.2. NM_175061.3.
UniGene	Hs.368944.
3D structure databases
ProteinModelPortal	Q86VZ6.
SMR	Q86VZ6. Positions 7-37, 169-231.
ModBase	Search...
Protein-protein interaction databases
STRING	Q86VZ6.
PTM databases
PhosphoSite	Q86VZ6.
Polymorphism databases
DMDM	32699538.
Proteomic databases
PRIDE	Q86VZ6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000283928; ENSP00000283928; ENSG00000153814.
GeneID	221895.
KEGG	hsa:221895.
UCSC	uc003szm.1. human. uc003szn.1. human.
Organism-specific databases
CTD	221895.
GeneCards	GC07M027837.
HGNC	HGNC:28917. JAZF1.
HPA	CAB019271.
MIM	606246. gene.
neXtProt	NX_Q86VZ6.
PharmGKB	PA162392484.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000003635.
HOGENOM	HBG716009.
HOVERGEN	HBG052161.
InParanoid	Q86VZ6.
OMA	EASRREN.
OrthoDB	EOG4VMFGF.
PhylomeDB	Q86VZ6.
Gene expression databases
ArrayExpress	Q86VZ6.
Bgee	Q86VZ6.
CleanEx	HS_JAZF1.
Genevestigator	Q86VZ6.
GermOnline	ENSG00000153814. Homo sapiens.
Family and domain databases
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Gene3D	G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 1 hit.
SMART	SM00355. ZnF_C2H2. 3 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 2 hits. PS50157. ZINC_FINGER_C2H2_2. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	91482.
SOURCE	Search...

Entry information

Entry name

JAZF1_HUMAN

Accession

Primary (citable) accession number: Q86VZ6
Secondary accession number(s): A4D195, Q8N3L7

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2003
Last sequence update:	July 11, 2003
Last modified:	January 25, 2012
This is version 83 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.