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Protein

Juxtaposed with another zinc finger protein 1

Gene

JAZF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri12 – 37C2H2-type 1Add BLAST26
Zinc fingeri173 – 198C2H2-type 2Add BLAST26
Zinc fingeri208 – 230C2H2-type 3; degenerateAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Lipid metabolism, Transcription, Transcription regulation

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

SIGNORiQ86VZ6.

Names & Taxonomyi

Protein namesi
Recommended name:
Juxtaposed with another zinc finger protein 1
Alternative name(s):
TAK1-interacting protein 27
Zinc finger protein 802
Gene namesi
Name:JAZF1
Synonyms:TIP27, ZNF802
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:28917. JAZF1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • nucleolus Source: HPA
  • nucleus Source: HPA
  • transcriptional repressor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi47K → P: Little effect on interaction with NR2C2. 1 Publication1
Mutagenesisi60Y → D: Abolishes interaction with NR2C2. 1 Publication1
Mutagenesisi69A → P: Little effect on interaction with NR2C2. 1 Publication1
Mutagenesisi76L → P: Reduces interaction with NR2C2. 1 Publication1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei129 – 130Breakpoint for translocation to form JAZF1-SUZ12 oncogene2

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi221895.
OpenTargetsiENSG00000153814.
Orphaneti536. Systemic lupus erythematosus.
PharmGKBiPA162392484.

Polymorphism and mutation databases

BioMutaiJAZF1.
DMDMi32699538.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000469851 – 243Juxtaposed with another zinc finger protein 1Add BLAST243

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei109PhosphothreonineBy similarity1
Modified residuei113PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86VZ6.
MaxQBiQ86VZ6.
PaxDbiQ86VZ6.
PeptideAtlasiQ86VZ6.
PRIDEiQ86VZ6.

PTM databases

iPTMnetiQ86VZ6.
PhosphoSitePlusiQ86VZ6.

Expressioni

Tissue specificityi

Highest expression in testis with moderate levels in colon, placenta, prostate and ovary and low levels in brain, spleen, liver and small intestine.1 Publication

Gene expression databases

BgeeiENSG00000153814.
CleanExiHS_JAZF1.
ExpressionAtlasiQ86VZ6. baseline and differential.
GenevisibleiQ86VZ6. HS.

Organism-specific databases

HPAiCAB019271.
HPA066967.

Interactioni

Subunit structurei

Interacts with NR2C2 (via ligand-binding region).1 Publication

Protein-protein interaction databases

BioGridi128764. 11 interactors.
IntActiQ86VZ6. 3 interactors.
STRINGi9606.ENSP00000283928.

Structurei

3D structure databases

ProteinModelPortaliQ86VZ6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni39 – 79Required for interaction with NR2C21 PublicationAdd BLAST41

Sequence similaritiesi

Contains 3 C2H2-type zinc fingers.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri12 – 37C2H2-type 1Add BLAST26
Zinc fingeri173 – 198C2H2-type 2Add BLAST26
Zinc fingeri208 – 230C2H2-type 3; degenerateAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG4124. Eukaryota.
COG5189. LUCA.
GeneTreeiENSGT00390000003635.
HOGENOMiHOG000252946.
HOVERGENiHBG052161.
InParanoidiQ86VZ6.
KOiK19495.
OMAiTDIIRKM.
OrthoDBiEOG091G0WNP.
PhylomeDBiQ86VZ6.
TreeFamiTF324161.

Family and domain databases

Gene3Di3.30.160.60. 2 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 3 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86VZ6-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MTGIAAASFF SNTCRFGGCG LHFPTLADLI EHIEDNHIDT DPRVLEKQEL
60 70 80 90 100
QQPTYVALSY INRFMTDAAR REQESLKKKI QPKLSLTLSS SVSRGNVSTP
110 120 130 140 150
PRHSSGSLTP PVTPPITPSS SFRSSTPTGS EYDEEEVDYE ESDSDESWTT
160 170 180 190 200
ESAISSEAIL SSMCMNGGEE KPFACPVPGC KKRYKNVNGI KYHAKNGHRT
210 220 230 240
QIRVRKPFKC RCGKSYKTAQ GLRHHTINFH PPVSAEIIRK MQQ
Length:243
Mass (Da):27,079
Last modified:July 11, 2003 - v2
Checksum:i878A6EE3D82C0588
GO
Isoform 2 (identifier: Q86VZ6-2) [UniParc]FASTAAdd to basket

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

Note: Incomplete sequence. No experimental confirmation available.
Show »
Length:229
Mass (Da):25,739
Checksum:i95A86EBE30C39FC8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti133D → G in AAH42441 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0077551 – 38MTGIA…EDNHI → YFVLGSLIYSDAKSKKNRNC VFIT in isoform 2. CuratedAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS5416.1. [Q86VZ6-1]
RefSeqiNP_778231.2. NM_175061.3. [Q86VZ6-1]
UniGeneiHs.368944.

Genome annotation databases

EnsembliENST00000283928; ENSP00000283928; ENSG00000153814. [Q86VZ6-1]
GeneIDi221895.
KEGGihsa:221895.
UCSCiuc003szn.4. human. [Q86VZ6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS5416.1. [Q86VZ6-1]
RefSeqiNP_778231.2. NM_175061.3. [Q86VZ6-1]
UniGeneiHs.368944.

3D structure databases

ProteinModelPortaliQ86VZ6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128764. 11 interactors.
IntActiQ86VZ6. 3 interactors.
STRINGi9606.ENSP00000283928.

PTM databases

iPTMnetiQ86VZ6.
PhosphoSitePlusiQ86VZ6.

Polymorphism and mutation databases

BioMutaiJAZF1.
DMDMi32699538.

Proteomic databases

EPDiQ86VZ6.
MaxQBiQ86VZ6.
PaxDbiQ86VZ6.
PeptideAtlasiQ86VZ6.
PRIDEiQ86VZ6.

Protocols and materials databases

DNASUi221895.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283928; ENSP00000283928; ENSG00000153814. [Q86VZ6-1]
GeneIDi221895.
KEGGihsa:221895.
UCSCiuc003szn.4. human. [Q86VZ6-1]

Organism-specific databases

CTDi221895.
DisGeNETi221895.
GeneCardsiJAZF1.
HGNCiHGNC:28917. JAZF1.
HPAiCAB019271.
HPA066967.
MIMi606246. gene.
neXtProtiNX_Q86VZ6.
OpenTargetsiENSG00000153814.
Orphaneti536. Systemic lupus erythematosus.
PharmGKBiPA162392484.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4124. Eukaryota.
COG5189. LUCA.
GeneTreeiENSGT00390000003635.
HOGENOMiHOG000252946.
HOVERGENiHBG052161.
InParanoidiQ86VZ6.
KOiK19495.
OMAiTDIIRKM.
OrthoDBiEOG091G0WNP.
PhylomeDBiQ86VZ6.
TreeFamiTF324161.

Enzyme and pathway databases

SIGNORiQ86VZ6.

Miscellaneous databases

ChiTaRSiJAZF1. human.
GeneWikiiJAZF1.
GenomeRNAii221895.
PROiQ86VZ6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153814.
CleanExiHS_JAZF1.
ExpressionAtlasiQ86VZ6. baseline and differential.
GenevisibleiQ86VZ6. HS.

Family and domain databases

Gene3Di3.30.160.60. 2 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 3 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiJAZF1_HUMAN
AccessioniPrimary (citable) accession number: Q86VZ6
Secondary accession number(s): A4D195, Q8N3L7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2003
Last sequence update: July 11, 2003
Last modified: November 30, 2016
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

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).1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.