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Protein

Juxtaposed with another zinc finger protein 1

Gene

JAZF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

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

  • DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
  • metal ion binding Source: UniProtKB-KW
  • nucleic acid binding Source: InterPro
  • transcription corepressor activity Source: MGI

GO - Biological processi

Keywordsi

Biological processLipid metabolism, Transcription, Transcription regulation
LigandMetal-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

EuPathDBiHostDB:ENSG00000153814.11
HGNCiHGNC:28917 JAZF1
MIMi606246 gene
neXtProtiNX_Q86VZ6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 PHF1.2 Publications

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
MalaCardsiJAZF1
OpenTargetsiENSG00000153814
Orphaneti213711 Endometrial stromal sarcoma
536 NON RARE IN EUROPE: 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
ProteomicsDBi70098
70099 [Q86VZ6-2]

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 Expressed in 197 organ(s), highest expression level in trabecular bone tissue
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, 13 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

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
OMAiQHIEDNH
OrthoDBiEOG091G0WNP
PhylomeDBiQ86VZ6
TreeFamiTF324161

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 3 hits
SUPFAMiSSF57667 SSF57667, 1 hit
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JGY8C9JGY8_HUMAN
Juxtaposed with another zinc finger...
JAZF1
181Annotation score:
C9JWY1C9JWY1_HUMAN
Juxtaposed with another zinc finger...
JAZF1
173Annotation score:
H0Y403H0Y403_HUMAN
Juxtaposed with another zinc finger...
JAZF1
230Annotation score:
F8WD35F8WD35_HUMAN
Juxtaposed with another zinc finger...
JAZF1
80Annotation score:
F8WCD3F8WCD3_HUMAN
Juxtaposed with another zinc finger...
JAZF1
66Annotation score:

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

Similar proteinsi

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, 13 interactors
IntActiQ86VZ6, 3 interactors
STRINGi9606.ENSP00000283928

PTM databases

iPTMnetiQ86VZ6
PhosphoSitePlusiQ86VZ6

Polymorphism and mutation databases

BioMutaiJAZF1
DMDMi32699538

Proteomic databases

EPDiQ86VZ6
MaxQBiQ86VZ6
PaxDbiQ86VZ6
PeptideAtlasiQ86VZ6
PRIDEiQ86VZ6
ProteomicsDBi70098
70099 [Q86VZ6-2]

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
EuPathDBiHostDB:ENSG00000153814.11
GeneCardsiJAZF1
HGNCiHGNC:28917 JAZF1
HPAiCAB019271
HPA066967
MalaCardsiJAZF1
MIMi606246 gene
neXtProtiNX_Q86VZ6
OpenTargetsiENSG00000153814
Orphaneti213711 Endometrial stromal sarcoma
536 NON RARE IN EUROPE: Systemic lupus erythematosus
PharmGKBiPA162392484
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

SIGNORiQ86VZ6

Miscellaneous databases

ChiTaRSiJAZF1 human
GeneWikiiJAZF1
GenomeRNAii221895
PROiPR:Q86VZ6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153814 Expressed in 197 organ(s), highest expression level in trabecular bone tissue
CleanExiHS_JAZF1
ExpressionAtlasiQ86VZ6 baseline and differential
GenevisibleiQ86VZ6 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 3 hits
SUPFAMiSSF57667 SSF57667, 1 hit
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiJAZF1_HUMAN
AccessioniPrimary (citable) accession number: Q86VZ6
Secondary accession number(s): A4D195, Q8N3L7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2003
Last sequence update: July 11, 2003
Last modified: November 7, 2018
This is version 142 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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