Human Gene JAZF1 (ENST00000283928.10_7) from GENCODE V47lift37
  Description: JAZF zinc finger 1 (from RefSeq NM_175061.4)
Gencode Transcript: ENST00000283928.10_7
Gencode Gene: ENSG00000153814.13_12
Transcript (Including UTRs)
   Position: hg19 chr7:27,870,196-28,220,414 Size: 350,219 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr7:27,872,419-28,220,196 Size: 347,778 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:27,870,196-28,220,414)mRNA (may differ from genome)Protein (243 aa)
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-  Comments and Description Text from UniProtKB
  ID: JAZF1_HUMAN
DESCRIPTION: RecName: Full=Juxtaposed with another zinc finger protein 1; AltName: Full=TAK1-interacting protein 27; AltName: Full=Zinc finger protein 802;
FUNCTION: Potential transcription factor.
SUBUNIT: Interacts with TAK1.
SUBCELLULAR LOCATION: Nucleus (Potential).
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.
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).
SIMILARITY: Contains 3 C2H2-type zinc fingers.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: JAZF1
Diseases sorted by gene-association score: endometrial stromal sarcoma* (378), endometrial stromal nodule (12), heart sarcoma (11), chromosome 17q11.2 deletion syndrome, 1.4-mb (7), prostate cancer susceptibility (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.08 RPKM in Adrenal Gland
Total median expression: 95.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.20218-0.189 Picture PostScript Text
3' UTR -495.802223-0.223 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

SCOP Domains:
49599 - TRAF domain-like
57667 - beta-beta-alpha zinc fingers

ModBase Predicted Comparative 3D Structure on Q86VZ6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
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     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003714 transcription corepressor activity
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006629 lipid metabolic process

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005829 cytosol
GO:0017053 transcriptional repressor complex


-  Descriptions from all associated GenBank mRNAs
  AL834234 - Homo sapiens mRNA; cDNA DKFZp761K2222 (from clone DKFZp761K2222).
BC042441 - Homo sapiens JAZF zinc finger 1, mRNA (cDNA clone MGC:42877 IMAGE:4831063), complete cds.
LP895580 - Sequence 444 from Patent EP3253886.
AL832491 - Homo sapiens mRNA; cDNA DKFZp686M1922 (from clone DKFZp686M1922).
BC047229 - Homo sapiens JAZF zinc finger 1, mRNA (cDNA clone IMAGE:4814463).
AY372319 - Homo sapiens TAK1-interacting protein 27 (TIP27) mRNA, complete cds.
AK091311 - Homo sapiens cDNA FLJ33992 fis, clone DFNES2007634, highly similar to Juxtaposed with another zinc finger protein 1.
AX746909 - Sequence 434 from Patent EP1308459.
EU446615 - Synthetic construct Homo sapiens clone IMAGE:100070274; IMAGE:100011824; FLH257202.01L JAZF zinc finger 1 (JAZF1) gene, encodes complete protein.
AB463807 - Synthetic construct DNA, clone: pF1KB7512, Homo sapiens JAZF1 gene for JAZF zinc finger 1, without stop codon, in Flexi system.
AK000711 - Homo sapiens cDNA FLJ20704 fis, clone KAIA1655.
JD303573 - Sequence 284597 from Patent EP1572962.
JD308607 - Sequence 289631 from Patent EP1572962.
JD298218 - Sequence 279242 from Patent EP1572962.
JD307810 - Sequence 288834 from Patent EP1572962.
JD564049 - Sequence 545073 from Patent EP1572962.
JD163571 - Sequence 144595 from Patent EP1572962.
JD297814 - Sequence 278838 from Patent EP1572962.
JD501704 - Sequence 482728 from Patent EP1572962.
JD066250 - Sequence 47274 from Patent EP1572962.
JD329392 - Sequence 310416 from Patent EP1572962.
JD530682 - Sequence 511706 from Patent EP1572962.
JD566235 - Sequence 547259 from Patent EP1572962.
JD350722 - Sequence 331746 from Patent EP1572962.
JD333998 - Sequence 315022 from Patent EP1572962.
JD521237 - Sequence 502261 from Patent EP1572962.
JD083603 - Sequence 64627 from Patent EP1572962.
JD485681 - Sequence 466705 from Patent EP1572962.
JD458469 - Sequence 439493 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D195, ENST00000283928.1, ENST00000283928.2, ENST00000283928.3, ENST00000283928.4, ENST00000283928.5, ENST00000283928.6, ENST00000283928.7, ENST00000283928.8, ENST00000283928.9, JAZF1 , JAZF1_HUMAN, NM_175061, Q86VZ6, Q8N3L7, TIP27, uc317kdm.1, uc317kdm.2, ZNF802
UCSC ID: ENST00000283928.10_7
RefSeq Accession: NM_175061.4
Protein: Q86VZ6 (aka JAZF1_HUMAN or JAZ1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.