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

Summary

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy.
Title: JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy.
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.
JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
Title: JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
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.
RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
Title: RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
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.
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.
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.
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.
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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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 EBI GWAS CatalogPubMed
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci identified in a genome-wide association study of prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-52834 (e-PCR)
- UniSTS:22283

GDB:4585731 (e-PCR)
- UniSTS:18956

D7S1535 (e-PCR)
- UniSTS:19996

STS-T95652 (e-PCR)
- UniSTS:797

D7S1808 (e-PCR)
- UniSTS:25378

D7S516 (e-PCR)
- UniSTS:14629

RH92604 (e-PCR)
- UniSTS:90661

D7S1808 (e-PCR)
- UniSTS:46631

D7S1987 (e-PCR)
- UniSTS:31274

WI-14586 (e-PCR)
- UniSTS:82483

D7S2272 (e-PCR)
- UniSTS:153652

SHGC-84867 (e-PCR)
- UniSTS:104768

SHGC-57972 (e-PCR)
- UniSTS:33626

G29216 (e-PCR)
- UniSTS:36447

SHGC-56019 (e-PCR)
- UniSTS:76388

RH98830 (e-PCR)
- UniSTS:86374

D7S547 (e-PCR)
- UniSTS:147561

RH102053 (e-PCR)
- UniSTS:96387

G49448 (e-PCR)
- UniSTS:109187

G49453 (e-PCR)
- UniSTS:109192

D7S516 (e-PCR)
- UniSTS:43429

D7S1590 (e-PCR)
- UniSTS:19372

RH36495 (e-PCR)
- UniSTS:31424

RH120726 (e-PCR)
- UniSTS:132807

GDB:1318436 (e-PCR)
- UniSTS:7887

G42089 (e-PCR)
- UniSTS:93135

WI-22677 (e-PCR)
- UniSTS:12241

D7S2835 (e-PCR)
- UniSTS:44504

SHGC-58372 (e-PCR)
- UniSTS:62182

D7S1569 (e-PCR)
- UniSTS:57838

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

NG_011499.1 RefSeqGene

Range

5024..355242

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

27830577..28180795 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420026.1 → XP_047275982.1 juxtaposed with another zinc finger protein 1 isoform X2
XM_047420025.1 → XP_047275981.1 juxtaposed with another zinc finger protein 1 isoform X2
XM_047420027.1 → XP_047275983.1 juxtaposed with another zinc finger protein 1 isoform X2
XM_047420024.1 → XP_047275980.1 juxtaposed with another zinc finger protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

27968286..28318176 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054357534.1 → XP_054213509.1 juxtaposed with another zinc finger protein 1 isoform X2
XM_054357535.1 → XP_054213510.1 juxtaposed with another zinc finger protein 1 isoform X2
XM_054357533.1 → XP_054213508.1 juxtaposed with another zinc finger protein 1 isoform X2
XM_054357532.1 → XP_054213507.1 juxtaposed with another zinc finger protein 1 isoform X1