PATZ1

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]

PATZ1
Available structures PDB Human UniProt 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
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 3,288,874 bp[2] End 3,309,083 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • chromatin binding • GO:0001948 protein binding • metal ion binding • nucleic acid binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell 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 from RNA polymerase II promoter • spermatogenesis • positive regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23598	56218
Ensembl	ENSG00000100105	ENSMUSG00000020453
UniProt	Q9HBE1	n/a
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	n/a
Location (UCSC)	Chr 22: 31.33 – 31.35 Mb	Chr 11: 3.29 – 3.31 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000100105 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020453 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP (December 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
6. Fedele M, Franco R, Salvatore G, Paronetto MP, Barbagallo F, Pero R, Chiariotti L, Sette C, Tramontano D, Chieffi G, Fusco A, Chieffi P (April 2008). "PATZ1 gene has a critical role in the spermatogenesis and testicular tumours". J Pathol. 215 (1): 39–47. doi:10.1002/path.2323. PMID 18241078.
7. Tian X, Sun D, Zhang Y, Zhao S, Xiong H, Fang J (April 2008). "Zinc finger protein 278, a potential oncogene in human colorectal cancer". Acta Biochim Biophys Sin (Shanghai). 40 (4): 289–96. CiteSeerX 10.1.1.624.619. doi:10.1111/j.1745-7270.2008.00405.x. PMID 18401526.
8. "Entrez Gene: PATZ1 POZ (BTB) and AT hook containing zinc finger 1".
9. Pero R, Lembo F, Palmieri EA, Vitiello C, Fedele M, Fusco A, Bruni CB, Chiariotti L (February 2002). "PATZ attenuates the RNF4-mediated enhancement of androgen receptor-dependent transcription". J. Biol. Chem. 277 (5): 3280–5. doi:10.1074/jbc.M109491200. PMID 11719514.
10. Morii E, Oboki K, Kataoka TR, Igarashi K, Kitamura Y (March 2002). "Interaction and cooperation of mi transcription factor (MITF) and myc-associated zinc-finger protein-related factor (MAZR) for transcription of mouse mast cell protease 6 gene". J. Biol. Chem. 277 (10): 8566–71. doi:10.1074/jbc.M110392200. PMID 11751862.
11. Fedele M, Benvenuto G, Pero R, Majello B, Battista S, Lembo F, Vollono E, Day PM, Santoro M, Lania L, Bruni CB, Fusco A, Chiariotti L (March 2000). "A novel member of the BTB/POZ family, PATZ, associates with the RNF4 RING finger protein and acts as a transcriptional repressor". J. Biol. Chem. 275 (11): 7894–901. doi:10.1074/jbc.275.11.7894. PMID 10713105.

Further reading

• Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Kobayashi A, Yamagiwa H, Hoshino H, Muto A, Sato K, Morita M, Hayashi N, Yamamoto M, Igarashi K (2000). "A Combinatorial Code for Gene Expression Generated by Transcription Factor Bach2 and MAZR (MAZ-Related Factor) through the BTB/POZ Domain". Mol. Cell. Biol. 20 (5): 1733–46. doi:10.1128/MCB.20.5.1733-1746.2000. PMC 85356. PMID 10669750.
• Fedele M, Benvenuto G, Pero R, Majello B, Battista S, Lembo F, Vollono E, Day PM, Santoro M, Lania L, Bruni CB, Fusco A, Chiariotti L (2000). "A novel member of the BTB/POZ family, PATZ, associates with the RNF4 RING finger protein and acts as a transcriptional repressor". J. Biol. Chem. 275 (11): 7894–901. doi:10.1074/jbc.275.11.7894. PMID 10713105.
• Mastrangelo T, Modena P, Tornielli S, Bullrich F, Testi MA, Mezzelani A, Radice P, Azzarelli A, Pilotti S, Croce CM, Pierotti MA, Sozzi G (2000). "A novel zinc finger gene is fused to EWS in small round cell tumor". Oncogene. 19 (33): 3799–804. doi:10.1038/sj.onc.1203762. PMID 10949935.
• Pero R, Lembo F, Palmieri EA, Vitiello C, Fedele M, Fusco A, Bruni CB, Chiariotti L (2002). "PATZ attenuates the RNF4-mediated enhancement of androgen receptor-dependent transcription". J. Biol. Chem. 277 (5): 3280–5. doi:10.1074/jbc.M109491200. PMID 11719514.
• Mitchelmore C, Kjaerulff KM, Pedersen HC, Nielsen JV, Rasmussen TE, Fisker MF, Finsen B, Pedersen KM, Jensen NA (2002). "Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms. Association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia". J. Biol. Chem. 277 (9): 7598–609. doi:10.1074/jbc.M110023200. PMID 11744704.
• Morii E, Oboki K, Kataoka TR, Igarashi K, Kitamura Y (2002). "Interaction and cooperation of mi transcription factor (MITF) and myc-associated zinc-finger protein-related factor (MAZR) for transcription of mouse mast cell protease 6 gene". J. Biol. Chem. 277 (10): 8566–71. doi:10.1074/jbc.M110392200. PMID 11751862.
• Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.