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

Gene ID: 221895, updated on 21-Aug-2020

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
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

Genomic context

See JAZF1 in Genome Data Viewer
Location:
7p15.2-p15.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (27830573..28180795, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27870192..28220437, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene 3-hydroxyisobutyrate dehydrogenase Neighboring gene uncharacterized LOC105375211 Neighboring gene TAX1BP1 antisense RNA 1 Neighboring gene Tax1 binding protein 1 Neighboring gene uncharacterized LOC105375208 Neighboring gene VISTA enhancer hs1430 Neighboring gene RNA, U6 small nuclear 979, pseudogene Neighboring gene JAZF1 antisense RNA 1 Neighboring gene peptidylprolyl isomerase A pseudogene 80 Neighboring gene cAMP responsive element binding protein 5 Neighboring gene VISTA enhancer hs1604

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
GeneReviews: Not available
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
GeneReviews: Not available
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
GeneReviews: Not available
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
GeneReviews: Not available
Multiple loci identified in a genome-wide association study of prostate cancer.
GeneReviews: Not available
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp761K2222

Gene Ontology Provided by GOA

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

General protein information

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)

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_175061.4NP_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
    Q86VZ6
    Related
    ENSP00000283928.5, ENST00000283928.10
    Conserved Domains (1) summary
    COG5189
    Location:169230
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    27830573..28180795 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715656.1XP_006715719.1  juxtaposed with another zinc finger protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715719.1

    Conserved Domains (1) summary
    COG5189
    Location:105166
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
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