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Aliases for PATZ1 Gene

Aliases for PATZ1 Gene

  • POZ/BTB And AT Hook Containing Zinc Finger 1 2 3 5
  • Zinc Finger Protein 278 2 3 4
  • Protein Kinase A RI Subunit Alpha-Associated Protein 3 4
  • Zinc Finger And BTB Domain-Containing Protein 19 3 4
  • Zinc Finger Sarcoma Gene Protein 3 4
  • ZNF278 3 4
  • ZBTB19 3 4
  • PATZ 3 4
  • RIAZ 3 4
  • ZSG 3 4
  • POZ-, AT Hook-, And Zinc Finger-Containing Protein 1 3
  • BTB-POZ Domain Zinc Finger Transcription Factor 3
  • BTB/POZ Domain Zinc Finger Transcription Factor 4
  • POZ (BTB) And AT Hook Containing Zinc Finger 1 2
  • POZ-AT Hook-Zinc Finger Protein 3
  • MAZ-Related Factor 3
  • DJ400N23 3
  • MAZR 3

External Ids for PATZ1 Gene

Previous HGNC Symbols for PATZ1 Gene

  • ZNF278

Previous GeneCards Identifiers for PATZ1 Gene

  • GC22M030051
  • GC22M031721
  • GC22M014683

Summaries for PATZ1 Gene

Entrez Gene Summary for PATZ1 Gene

  • The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PATZ1 Gene

PATZ1 (POZ/BTB And AT Hook Containing Zinc Finger 1) is a Protein Coding gene. Diseases associated with PATZ1 include Sarcoma. Among its related pathways are Coregulation of Androgen receptor activity and Androgen receptor signaling pathway. GO annotations related to this gene include chromatin binding. An important paralog of this gene is MAZ.

UniProtKB/Swiss-Prot for PATZ1 Gene

  • Transcriptional repressor.

Gene Wiki entry for PATZ1 Gene

Additional gene information for PATZ1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PATZ1 Gene

Genomics for PATZ1 Gene

Regulatory Elements for PATZ1 Gene

Enhancers for PATZ1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H031097 1.6 Ensembl ENCODE dbSUPER 13.7 +243.2 243212 10.5 PKNOX1 FOXA2 ARNT ARID4B YY1 ZNF143 FOS DEK SP3 SP5 TUG1 MORC2 RNF185 SELENOM EIF4ENIF1 PATZ1 RNF215 PLA2G3 ENSG00000214125 DEPDC5
GH22H031283 2 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +57.2 57161 10.5 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 SFI1 RNU6-1128P RPS17P16 LINC01521 PATZ1 PIK3IP1 RNF185 LIMK2 SMTN DEPDC5
GH22H030444 1.4 Ensembl ENCODE dbSUPER 13.4 +900.7 900731 1.6 TBP ZNF76 RAD21 YY1 GATA2 EGR1 ZNF143 FOS ETV6 RUNX3 SEC14L3 TUG1 TBC1D10A PATZ1 SF3A1 PES1 ENSG00000181123 SEC14L2 ENSG00000249590 LIF
GH22H031226 2 FANTOM5 Ensembl ENCODE dbSUPER 9.3 +115.9 115855 7.3 HDGF ATF1 FOXA2 MLX ARNT ARID4B YY1 TCF12 ZNF121 ZNF766 LIMK2 RNF185 SFI1 SELENOM INPP5J PATZ1 LINC01521 PIK3IP1 SMTN ENSG00000202019
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PATZ1 on UCSC Golden Path with GeneCards custom track

Promoters for PATZ1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for PATZ1 Gene

Genomic Locations for PATZ1 Gene
20,460 bases
Minus strand

Genomic View for PATZ1 Gene

Genes around PATZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PATZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PATZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PATZ1 Gene

Proteins for PATZ1 Gene

  • Protein details for PATZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    POZ-, AT hook-, and zinc finger-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q9HBE2
    • Q9HBE3
    • Q9P1A9
    • Q9UDU0
    • Q9Y529

    Protein attributes for PATZ1 Gene

    687 amino acids
    Molecular mass:
    74060 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAB51404.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PATZ1 Gene

    Alternative splice isoforms for PATZ1 Gene


neXtProt entry for PATZ1 Gene

Post-translational modifications for PATZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PATZ1 Gene

No data available for DME Specific Peptides for PATZ1 Gene

Domains & Families for PATZ1 Gene

Gene Families for PATZ1 Gene

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

Suggested Antigen Peptide Sequences for PATZ1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with PATZ1: view

Function for PATZ1 Gene

Molecular function for PATZ1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor.

Phenotypes From GWAS Catalog for PATZ1 Gene

Gene Ontology (GO) - Molecular Function for PATZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding NAS 10949935
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with PATZ1: view
genes like me logo Genes that share phenotypes with PATZ1: view

Animal Models for PATZ1 Gene

MGI Knock Outs for PATZ1:

Animal Model Products

CRISPR Products

Transcription Factor Targets for PATZ1 Gene

Selected GeneGlobe predicted Target genes for PATZ1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for PATZ1 Gene

Localization for PATZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PATZ1 Gene

Subcellular locations from

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 PATZ1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PATZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10713105
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with PATZ1: view

Pathways & Interactions for PATZ1 Gene

genes like me logo Genes that share pathways with PATZ1: view

Pathways by source for PATZ1 Gene

SIGNOR curated interactions for PATZ1 Gene


Gene Ontology (GO) - Biological Process for PATZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 10713105
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007283 spermatogenesis IEA --
GO:0008584 male gonad development IEA --
genes like me logo Genes that share ontologies with PATZ1: view

Drugs & Compounds for PATZ1 Gene

(1) Drugs for PATZ1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PATZ1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PATZ1: view

Transcripts for PATZ1 Gene

Unigene Clusters for PATZ1 Gene

POZ (BTB) and AT hook containing zinc finger 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PATZ1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - -
SP7: - - -
SP8: -

Relevant External Links for PATZ1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PATZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PATZ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PATZ1 Gene

This gene is overexpressed in Liver, secretome (28.7), Lung (23.2), and Fetal Brain (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PATZ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PATZ1 Gene:


SOURCE GeneReport for Unigene cluster for PATZ1 Gene:


mRNA Expression by UniProt/SwissProt for PATZ1 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PATZ1 Gene

  • Intestine(4.2)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with PATZ1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PATZ1 Gene

Orthologs for PATZ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PATZ1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PATZ1 33 34
  • 99.71 (n)
(Ornithorhynchus anatinus)
Mammalia PATZ1 34
  • 96 (a)
(Canis familiaris)
Mammalia PATZ1 33 34
  • 94.13 (n)
(Bos Taurus)
Mammalia PATZ1 33 34
  • 93.16 (n)
(Rattus norvegicus)
Mammalia Patz1 33
  • 91.52 (n)
(Mus musculus)
Mammalia Patz1 33 16 34
  • 90.8 (n)
(Monodelphis domestica)
Mammalia PATZ1 34
  • 86 (a)
(Gallus gallus)
Aves PATZ1 33 34
  • 81.18 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 10 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia patz1 33
  • 69.94 (n)
Str.10346 33
(Danio rerio)
Actinopterygii patz1 33 34
  • 62.2 (n)
Species where no ortholog for PATZ1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 PATZ1 Gene

Gene Tree for PATZ1 (if available)
Gene Tree for PATZ1 (if available)

Paralogs for PATZ1 Gene

Paralogs for PATZ1 Gene

(2) SIMAP similar genes for PATZ1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PATZ1: view

Variants for PATZ1 Gene

Sequence variations from dbSNP and Humsavar for PATZ1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000102672 -- 31,329,286(+) TGCAG(A/G)AACCA intron-variant
rs1000364268 -- 31,327,868(+) TACCG(C/T)CTTCC intron-variant
rs1000470935 -- 31,332,674(+) TGTTG(A/G)AGTGG intron-variant
rs1000502099 -- 31,332,944(+) TCCAC(C/T)GTTCA intron-variant
rs1000584165 -- 31,325,381(+) GAGCC(C/G)CAACC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for PATZ1 Gene

Variant ID Type Subtype PubMed ID
nsv834176 CNV loss 17160897
nsv1110864 OTHER inversion 24896259

Variation tolerance for PATZ1 Gene

Residual Variation Intolerance Score: 4.35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.96; 74.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PATZ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PATZ1 Gene

Disorders for PATZ1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PATZ1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • connective and soft tissue neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search PATZ1 in MalaCards View complete list of genes associated with diseases


  • Note=A chromosomal aberration involving PATZ1 is associated with small round cell sarcoma. Translocation t(1;22)(p36.1;q12) with EWSR1. {ECO:0000269 PubMed:10949935}.

Relevant External Links for PATZ1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PATZ1: view

No data available for Genatlas for PATZ1 Gene

Publications for PATZ1 Gene

  1. Zinc finger protein 278, a potential oncogene in human colorectal cancer. (PMID: 18401526) Tian X … Fang J (Acta biochimica et biophysica Sinica 2008) 2 3 22 60
  2. A novel member of the BTB/POZ family, PATZ, associates with the RNF4 RING finger protein and acts as a transcriptional repressor. (PMID: 10713105) Fedele M … Chiariotti L (The Journal of biological chemistry 2000) 3 4 22 60
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 60
  4. Interaction of the regulatory subunit of the cAMP-dependent protein kinase with PATZ1 (ZNF278). (PMID: 20026299) Yang WL … Chin KV (Biochemical and biophysical research communications 2010) 3 22 60
  5. [Association of single nucleotide polymorphisms of PATZ1 gene with azoospermia]. (PMID: 20677143) Huang JX … A ZC (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010) 3 45 60

Products for PATZ1 Gene

Sources for PATZ1 Gene

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