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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 Endometrial Stromal Nodule. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for JAZF1 Gene

Promoters and enhancers for JAZF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J028178 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 655.8 +0.8 767 2.7 SIN3A BATF IRF4 YY1 ZNF335 GLIS2 SCRT2 RUNX3 CREM SP3 JAZF1-AS1 JAZF1 RNU6-979P GC07M028118
GH07J027992 Promoter 0.8 EPDnew 650.1 +188.7 188729 0.1 OSR2 PKNOX1 PRDM6 CEBPB OVOL3 ZNF24 ZEB2 JAZF1 PIR54187 PIR39851
GH07J028182 Enhancer 0.6 FANTOM5 Ensembl dbSUPER 650.7 -1.4 -1431 0.3 JAZF1 JAZF1-AS1 PPIAP80
GH07J028154 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.6 +24.9 24921 3.4 PKNOX1 FOXA2 STAT5A BMI1 BATF KLF5 IRF4 ZBTB40 RAD21 RFX5 JAZF1 JAZF1-AS1 GC07M028118 RNU6-979P
GH07J028151 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 21 +28.4 28423 2.2 JUN BMI1 BATF KLF5 IRF4 ATF7 ETV6 IKZF2 RUNX3 CREM JAZF1 JAZF1-AS1 GC07M028118 RNU6-979P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JAZF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the JAZF1 gene promoter:
  • HOXA3
  • Tal-1beta
  • E47
  • E2F-1
  • E2F
  • Pbx1a
  • Nkx2-5
  • MyoD
  • RSRFC4
  • AML1a

Genomic Locations for JAZF1 Gene

Genomic Locations for JAZF1 Gene
chr7:27,830,573-28,180,818
(GRCh38/hg38)
Size:
350,246 bases
Orientation:
Minus strand
chr7:27,870,192-28,220,437
(GRCh37/hg19)
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 Lys47
  • Modification sites at PhosphoSitePlus

Other Protein References for JAZF1 Gene

No data available for DME Specific Peptides for JAZF1 Gene

Domains & Families for JAZF1 Gene

Gene Families for JAZF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

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).

Phenotypes From GWAS Catalog for JAZF1 Gene

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 NAS 19274049
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
cytoskeleton 3
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleus (3)
See all subcellular structures

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 by RNA polymerase II 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

mRNA/cDNA for JAZF1 Gene

Unigene Clusters for JAZF1 Gene

JAZF zinc finger 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 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)
  • Muscle(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with JAZF1: view

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 33
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia JAZF1 34 33
  • 94.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia JAZF1 34 33
  • 94.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jazf1 33
  • 93.42 (n)
mouse
(Mus musculus)
Mammalia Jazf1 16 34 33
  • 92.32 (n)
oppossum
(Monodelphis domestica)
Mammalia JAZF1 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAZF1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves JAZF1 34 33
  • 87.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JAZF1 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jazf1 33
  • 84.64 (n)
Str.13177 33
zebrafish
(Danio rerio)
Actinopterygii jazf1b 34
  • 90 (a)
OneToMany
jazf1a 34 33
  • 76.19 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12054 34 33
  • 59.9 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SFP1 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for JAZF1: view image

Paralogs for JAZF1 Gene

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

  • JAZF1_HUMAN
  • C9JGY8_HUMAN
  • C9JKQ6_HUMAN
  • C9JWY1_HUMAN
  • F8WCD3_HUMAN
  • F8WD35_HUMAN
  • H0Y403_HUMAN
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 Variation AA Info Type
rs1000005943 -- 28,039,752(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000022346 -- 28,147,507(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000029441 -- 28,106,527(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000032103 -- 27,847,614(-) A/T intron_variant
rs1000033653 -- 28,147,747(-) T/G genic_upstream_transcript_variant, 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)

Additional Variant Information for JAZF1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for JAZF1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
endometrial stromal nodule
heart sarcoma
  • cardiac sarcoma
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • neurofibromatosis 1 microdeletion syndrome
- 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}.

Additional Disease Information for JAZF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (New York, N.Y.) 2008) 3 4 22 58
  2. Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. (PMID: 11371647) Koontz JI … Sklar J (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22 58
  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 (The Prostate 2011) 3 44 58
  4. Meta-analysis of genome-wide and replication association studies on prostate cancer. (PMID: 20690139) Liu H … Han C (The Prostate 2011) 3 44 58
  5. 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 EM (The Prostate 2011) 3 44 58

Products for JAZF1 Gene

Sources for JAZF1 Gene

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