PATZ1

PATZ1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2EPP, 2EPQ, 2EPR, 2EPS, 2YT9
Identifiers
Aliases	PATZ1, MAZR, PATZ, RIAZ, ZBTB19, ZNF278, ZSG, dJ400N23, POZ/BTB and AT hook containing zinc finger 1
External IDs	OMIM: 605165; MGI: 1891832; HomoloGene: 8636; GeneCards: PATZ1; OMA:PATZ1 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q12.2 Start 31,325,804 bp[1] End 31,346,346 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 A1 Start 3,238,874 bp[2] End 3,259,083 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone ganglionic eminence right lobe of thyroid gland right uterine tube left lobe of thyroid gland olfactory zone of nasal mucosa gonad minor salivary glands paraflocculus of cerebellum ovary Top expressed in tail of embryo genital tubercle ventricular zone zygote thymus neural tube otolith organ utricle embryo muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding protein binding metal ion binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm Biological process regulation of gene expression positive regulation of transcription, DNA-templated T cell differentiation male gonad development negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated transcription by RNA polymerase II spermatogenesis positive regulation of transcription by RNA polymerase II transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23598 56218 Ensembl ENSG00000100105 ENSMUSG00000020453 UniProt Q9HBE1 Q5NBY9 RefSeq (mRNA) NM_032052 NM_014323 NM_032050 NM_032051 NM_001253690 NM_001253691 NM_019574 RefSeq (protein) NP_055138 NP_114439 NP_114440 NP_114441 NP_001240619 NP_001240620 NP_062520 Location (UCSC) Chr 22: 31.33 – 31.35 Mb Chr 11: 3.24 – 3.26 Mb PubMed search [3] [4]
Wikidata
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POZ-, AT hook-, and zinc finger-containing protein 1 is a protein that in humans is encoded by the PATZ1 gene.^[5][6][7][8]

Function

The protein encoded by this gene contains an AT-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.^[8]

Interactions

PATZ1 has been shown to interact with:

• Androgen receptor,^[9]
• Microphthalmia-associated transcription factor,^[10] and
• RNF4.^[9][11]

References

Further reading