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JAZF1 JAZF zinc finger 1 [ Homo sapiens (human) ]

Gene ID: 221895, updated on 2-Nov-2024

Summary

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Official Symbol
JAZF1provided by HGNC
Official Full Name
JAZF zinc finger 1provided by HGNC
Primary source
HGNC:HGNC:28917
See related
Ensembl:ENSG00000153814 MIM:606246; AllianceGenome:HGNC:28917
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TIP27; ZNF802
Summary
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]
Expression
Broad expression in adrenal (RPKM 50.1), endometrium (RPKM 20.1) and 20 other tissues See more
Orthologs
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Genomic context

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See JAZF1 in Genome Data Viewer
Location:
7p15.2-p15.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27830577..28180795, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (27968286..28318176, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27870196..28220414, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene 3-hydroxyisobutyrate dehydrogenase Neighboring gene uncharacterized LOC105375211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27702239-27703056 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:27717219-27718418 Neighboring gene Sharpr-MPRA regulatory region 14722 Neighboring gene MPRA-validated peak6452 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27779716-27780578 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:27780579-27781442 Neighboring gene TAX1BP1 antisense RNA 1 Neighboring gene Tax1 binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27903667-27904167 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:27907318-27908517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25793 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:28021142-28022341 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:28027281-28027840 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:28076521-28077720 Neighboring gene uncharacterized LOC105375208 Neighboring gene VISTA enhancer hs1430 Neighboring gene RNA, U6 small nuclear 979, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:28218633-28219134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:28219135-28219634 Neighboring gene MPRA-validated peak6455 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25794 Neighboring gene JAZF1 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:28330425-28331392 and GRCh37_chr7:28331393-28332360 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:28332361-28333326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:28350942-28351442 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:28398093-28398687 Neighboring gene peptidylprolyl isomerase A pseudogene 80 Neighboring gene Sharpr-MPRA regulatory region 5389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25795 Neighboring gene cAMP responsive element binding protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25797 Neighboring gene Sharpr-MPRA regulatory region 14916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18046 Neighboring gene VISTA enhancer hs1604 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:28651065-28652264 Neighboring gene ribosomal protein S2 pseudogene 30

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy.
    Title: JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy.
  2. Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects.
    Title: Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects.
  3. JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
    Title: JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
  4. Down-regulation of the transcriptional repressor ZNF802 (JAZF1) reactivates fetal hemoglobin in beta(0)-thalassemia/HbE.
    Title: Down-regulation of the transcriptional repressor ZNF802 (JAZF1) reactivates fetal hemoglobin in β(0)-thalassemia/HbE.
  5. RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
    Title: RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
  6. Correlation analysis of epicardial adipose tissue thickness, C-reactive protein, interleukin-6, visfatin, juxtaposed with another zinc finger protein 1, and type 2 diabetic macroangiopathy.
    Title: Correlation analysis of epicardial adipose tissue thickness, C-reactive protein, interleukin-6, visfatin, juxtaposed with another zinc finger protein 1, and type 2 diabetic macroangiopathy.
  7. The relationship between chimeric RNAs and gene fusions: Potential implications of reciprocity in cancer.
    Title: The relationship between chimeric RNAs and gene fusions: Potential implications of reciprocity in cancer.
  8. TFAP2B, AP-1 and JAZF1 Expression in Tissues of Papillary Thyroid Carcinoma Patients; Clinical, Pathological and Prognostic Values.
    Title: TFAP2B, AP-1 and JAZF1 Expression in Tissues of Papillary Thyroid Carcinoma Patients; Clinical, Pathological and Prognostic Values.
  9. The Diabetes Gene JAZF1 Is Essential for the Homeostatic Control of Ribosome Biogenesis and Function in Metabolic Stress.
    Title: The Diabetes Gene JAZF1 Is Essential for the Homeostatic Control of Ribosome Biogenesis and Function in Metabolic Stress.
  10. This review provides an update of the latest research advances on JAZF1 and its regulatory network in T2 diabetes mellitus (T2DM). The association between JAZF1 polymorphisms and T2DM is discussed as well. The information provided is of importance for guiding future studies as well as for the design of JAZF1-based T2DM therapy. [review]
    Title: JAZF1, a relevant metabolic regulator in type 2 diabetes.
Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
EBI GWAS Catalog
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
EBI GWAS Catalog
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.
EBI GWAS Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
EBI GWAS Catalog
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
EBI GWAS Catalog
Multiple loci identified in a genome-wide association study of prostate cancer.
EBI GWAS Catalog
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp761K2222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transcription repressor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
juxtaposed with another zinc finger protein 1
Names
TAK1-interacting protein 27
juxtaposed with another zinc finger gene 1
zinc finger protein 802

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011499.1 RefSeqGene

    Range
    5024..355242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_175061.4 → NP_778231.2  juxtaposed with another zinc finger protein 1

    See identical proteins and their annotated locations for NP_778231.2

    Status: REVIEWED

    Source sequence(s)
    AK091311, BC042441, BC047229, DA864624
    Consensus CDS
    CCDS5416.1
    UniProtKB/Swiss-Prot
    A4D195, Q86VZ6, Q8N3L7
    UniProtKB/TrEMBL
    H0Y403
    Related
    ENSP00000283928.5, ENST00000283928.10
    Conserved Domains (1) summary
    COG5189
    Location:169 → 230
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    27830577..28180795 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420026.1 → XP_047275982.1  juxtaposed with another zinc finger protein 1 isoform X2

  2. XM_047420025.1 → XP_047275981.1  juxtaposed with another zinc finger protein 1 isoform X2

  3. XM_047420027.1 → XP_047275983.1  juxtaposed with another zinc finger protein 1 isoform X2

  4. XM_047420024.1 → XP_047275980.1  juxtaposed with another zinc finger protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    27968286..28318176 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357534.1 → XP_054213509.1  juxtaposed with another zinc finger protein 1 isoform X2

  2. XM_054357535.1 → XP_054213510.1  juxtaposed with another zinc finger protein 1 isoform X2

  3. XM_054357533.1 → XP_054213508.1  juxtaposed with another zinc finger protein 1 isoform X2

  4. XM_054357532.1 → XP_054213507.1  juxtaposed with another zinc finger protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86VZ6.2 GenPept UniProtKB/Swiss-Prot:Q86VZ6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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