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Aliases for JAZF1 Gene

Aliases for JAZF1 Gene

  • JAZF Zinc Finger 1 2 3 5
  • TAK1-Interacting Protein 27 3 4
  • Zinc Finger Protein 802 3 4
  • ZNF802 3 4
  • TIP27 3 4
  • Juxtaposed With Another Zinc Finger Protein 1 3
  • Juxtaposed With Another Zinc Finger Gene 1 3

External Ids for JAZF1 Gene

Previous GeneCards Identifiers for JAZF1 Gene

  • GC07U990333
  • GC07M027578
  • GC07M027612
  • GC07M027595
  • GC07M027643
  • GC07M027837
  • GC07M027752

Summaries for JAZF1 Gene

Entrez Gene Summary for JAZF1 Gene

  • This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]

GeneCards Summary for JAZF1 Gene

JAZF1 (JAZF Zinc Finger 1) is a Protein Coding gene. Diseases associated with JAZF1 include Endometrial Stromal Sarcoma and Heart Sarcoma. GO annotations related to this gene include nucleic acid binding and transcription corepressor activity.

UniProtKB/Swiss-Prot for JAZF1 Gene

  • 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).

Gene Wiki entry for JAZF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAZF1 Gene

Genomics for JAZF1 Gene

Regulatory Elements for JAZF1 Gene

Enhancers for JAZF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G028154 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.6 +24.9 24921 3.4 PKNOX1 TBL1XR1 BMI1 ZBTB40 RAD21 RFX5 YY1 CBX5 RCOR1 RELB JAZF1 JAZF1-AS1 GC07M028118 RNU6-979P
GH07G028151 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21 +28.4 28423 2.2 JUN BMI1 ZIC2 ARID3A FOS ETV6 RELB IKZF2 CREM SRF JAZF1 JAZF1-AS1 GC07M028118 RNU6-979P
GH07G028149 0.9 ENCODE dbSUPER 21.1 +30.7 30652 1.5 SCRT1 MTA2 NR2F1 MAX EBF1 TBX21 EP300 NR2F2 JUND SCRT2 JAZF1-AS1 JAZF1 RNU6-979P GC07M028118
GH07G028082 1.3 FANTOM5 Ensembl ENCODE 10.5 +97.1 97135 2.6 BHLHE40 CEBPB NR3C1 EP300 RFX5 YY1 FOXA1 JUND ATF3 STAT3 JAZF1 JAZF1-AS1 HOXA11 HOXA11-AS HOXA9 HOXA10 ENSG00000253508 HOXA13 HOTTIP EVX1-AS
GH07G028135 1 FANTOM5 ENCODE 10.5 +44.8 44822 1.0 ZBTB21 ZIC2 ATF2 ZNF664 OSR2 ZSCAN21 ATF3 ZNF629 CREB1 PRDM10 JAZF1-AS1 JAZF1 RNU6-979P GC07M028118
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JAZF1 on UCSC Golden Path with GeneCards custom track

Promoters for JAZF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000210007 618 2001 MXI1 ZMYM3 SIN3A RBBP5 ZIC2 GLIS2 POLR2A SCRT2 CREM ZBTB20

Genomic Location for JAZF1 Gene

Chromosome:
7
Start:
27,830,573 bp from pter
End:
28,180,818 bp from pter
Size:
350,246 bases
Orientation:
Minus strand

Genomic View for JAZF1 Gene

Genes around JAZF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAZF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JAZF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JAZF1 Gene

Proteins for JAZF1 Gene

  • Protein details for JAZF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VZ6-JAZF1_HUMAN
    Recommended name:
    Juxtaposed with another zinc finger protein 1
    Protein Accession:
    Q86VZ6
    Secondary Accessions:
    • A4D195
    • Q8N3L7

    Protein attributes for JAZF1 Gene

    Size:
    243 amino acids
    Molecular mass:
    27079 Da
    Quaternary structure:
    • Interacts with NR2C2 (via ligand-binding region).
    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).

    Alternative splice isoforms for JAZF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JAZF1 Gene

Post-translational modifications for JAZF1 Gene

  • Ubiquitination at posLast=4747
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for JAZF1 Gene

Domains & Families for JAZF1 Gene

Gene Families for JAZF1 Gene

Protein Domains for JAZF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for JAZF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with JAZF1: view

No data available for UniProtKB/Swiss-Prot for JAZF1 Gene

Function for JAZF1 Gene

Molecular function for JAZF1 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for JAZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0003676 nucleic acid binding IEA --
GO:0003714 transcription corepressor activity IDA 15302918
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with JAZF1: view
genes like me logo Genes that share phenotypes with JAZF1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JAZF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for JAZF1 Gene

Localization for JAZF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAZF1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JAZF1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for JAZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005829 cytosol IDA --
GO:0017053 transcriptional repressor complex IDA 15302918
genes like me logo Genes that share ontologies with JAZF1: view

Pathways & Interactions for JAZF1 Gene

SuperPathways for JAZF1 Gene

No Data Available

SIGNOR curated interactions for JAZF1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for JAZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 15302918
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006629 lipid metabolic process IEA --
genes like me logo Genes that share ontologies with JAZF1: view

No data available for Pathways by source for JAZF1 Gene

Drugs & Compounds for JAZF1 Gene

No Compound Related Data Available

Transcripts for JAZF1 Gene

Unigene Clusters for JAZF1 Gene

JAZF zinc finger 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JAZF1

Alternative Splicing Database (ASD) splice patterns (SP) for JAZF1 Gene

No ASD Table

Relevant External Links for JAZF1 Gene

GeneLoc Exon Structure for
JAZF1
ECgene alternative splicing isoforms for
JAZF1

Expression for JAZF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for JAZF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for JAZF1 Gene

This gene is overexpressed in Whole Blood (x5.1).

Protein differential expression in normal tissues from HIPED for JAZF1 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for JAZF1 Gene



Protein tissue co-expression partners for JAZF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of JAZF1 Gene:

JAZF1

SOURCE GeneReport for Unigene cluster for JAZF1 Gene:

Hs.368944

mRNA Expression by UniProt/SwissProt for JAZF1 Gene:

Q86VZ6-JAZF1_HUMAN
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.

Evidence on tissue expression from TISSUES for JAZF1 Gene

  • Nervous system(4.7)
  • Adrenal gland(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with JAZF1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for JAZF1 Gene

Orthologs for JAZF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for JAZF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JAZF1 34 35
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia JAZF1 34 35
  • 94.96 (n)
cow
(Bos Taurus)
Mammalia JAZF1 34 35
  • 94.92 (n)
rat
(Rattus norvegicus)
Mammalia Jazf1 34
  • 93.42 (n)
mouse
(Mus musculus)
Mammalia Jazf1 34 16 35
  • 92.32 (n)
oppossum
(Monodelphis domestica)
Mammalia JAZF1 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAZF1 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves JAZF1 34 35
  • 87.38 (n)
lizard
(Anolis carolinensis)
Reptilia JAZF1 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jazf1 34
  • 84.64 (n)
Str.13177 34
zebrafish
(Danio rerio)
Actinopterygii jazf1b 35
  • 90 (a)
OneToMany
jazf1a 34 35
  • 76.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12054 34 35
  • 59.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SFP1 35
  • 9 (a)
OneToOne
Species where no ortholog for JAZF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for JAZF1 Gene

ENSEMBL:
Gene Tree for JAZF1 (if available)
TreeFam:
Gene Tree for JAZF1 (if available)

Paralogs for JAZF1 Gene

(2) SIMAP similar genes for JAZF1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with JAZF1: view

No data available for Paralogs for JAZF1 Gene

Variants for JAZF1 Gene

Sequence variations from dbSNP and Humsavar for JAZF1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000005943 -- 28,039,752(+) AATTT(A/G)AAATT intron-variant
rs1000022346 -- 28,147,507(+) TTACA(C/T)TATGA intron-variant
rs1000029441 -- 28,106,527(+) CCAAG(C/G)AGAAG intron-variant
rs1000032103 -- 27,847,614(+) GTTCC(A/T)CTGGT intron-variant
rs1000033653 -- 28,147,747(+) TGTGT(G/T)GACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for JAZF1 Gene

Variant ID Type Subtype PubMed ID
esv1002613 CNV deletion 20482838
esv1128518 CNV deletion 17803354
esv1940109 CNV deletion 18987734
esv24518 CNV loss 19812545
esv2461042 CNV deletion 19546169
esv2658930 CNV deletion 23128226
esv2665878 CNV deletion 23128226
esv2734174 CNV deletion 23290073
esv2759520 CNV loss 17122850
esv3305055 CNV mobile element insertion 20981092
esv3361957 CNV insertion 20981092
esv3541384 CNV deletion 23714750
esv3571706 CNV loss 25503493
esv3571707 CNV loss 25503493
esv3571708 CNV loss 25503493
esv3571710 CNV loss 25503493
esv3571711 CNV loss 25503493
esv3571712 CNV loss 25503493
esv3571713 CNV loss 25503493
esv3571714 CNV loss 25503493
esv3612668 CNV gain 21293372
esv3612669 CNV loss 21293372
esv3891091 CNV gain 25118596
nsv1018550 CNV gain 25217958
nsv1024819 CNV loss 25217958
nsv1030685 CNV loss 25217958
nsv1032041 CNV gain 25217958
nsv1074083 CNV deletion 25765185
nsv1132044 CNV deletion 24896259
nsv1137575 CNV deletion 24896259
nsv520555 CNV loss 19592680
nsv5677 CNV deletion 18451855
nsv830931 CNV gain 17160897
nsv950820 CNV deletion 24416366
nsv956012 CNV deletion 24416366

Variation tolerance for JAZF1 Gene

Residual Variation Intolerance Score: 41.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JAZF1 Gene

Human Gene Mutation Database (HGMD)
JAZF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAZF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAZF1 Gene

Disorders for JAZF1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for JAZF1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
heart sarcoma
  • cardiac sarcoma
endometrial stromal nodule
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • chromosome 17q11.2 deletion syndrome, 1.4mb
prostate cancer susceptibility
- elite association - COSMIC cancer census association via MalaCards
Search JAZF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

JAZF1_HUMAN
  • 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}.

Relevant External Links for JAZF1

Genetic Association Database (GAD)
JAZF1
Human Genome Epidemiology (HuGE) Navigator
JAZF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JAZF1
genes like me logo Genes that share disorders with JAZF1: view

No data available for Genatlas for JAZF1 Gene

Publications for JAZF1 Gene

  1. A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells. (PMID: 18772439) Li H. … Sklar J. (Science 2008) 3 4 22 64
  2. Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. (PMID: 11371647) Koontz J.I. … Sklar J. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 22 64
  3. Inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for prostate cancer. (PMID: 20878950) Sun J. … Xu J. (Prostate 2011) 3 46 64
  4. Evidence for an association between prostate cancer and chromosome 8q24 and 10q11 genetic variants in African American men: the Flint Men's Health Study. (PMID: 20717903) Wang Y. … Lange E.M. (Prostate 2011) 3 46 64
  5. Meta-analysis of genome-wide and replication association studies on prostate cancer. (PMID: 20690139) Liu H. … Han C. (Prostate 2011) 3 46 64

Products for JAZF1 Gene

  • Addgene plasmids for JAZF1

Sources for JAZF1 Gene

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