PATZ1

PATZ1
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; GeneCards: PATZ1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2EPP, 2EPQ, 2EPR, 2EPS, 2YT9
Gene location (Human)
Chr.	Chromosome 22 (human)
End	31,346,346 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	3,259,083 bp
RNA expression pattern
	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
	; ; ; ;
	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
Databases	NCBI: entry; OMA: entry
	23598
	56218
	ENSG00000100105
	ENSMUSG00000020453
	Q9HBE1
	Q5NBY9
	NM_032052; NM_014323; NM_032050; NM_032051
	NM_001253690; NM_001253691; NM_019574
	NP_055138; NP_114439; NP_114440; NP_114441
	NP_001240619; NP_001240620; NP_062520
	Wikidata
View/Edit Human	View/Edit Mouse

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]

Gene

Four alternatively spliced transcript variants are described for this gene.^[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..^[8]

Clinical significance

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.^[8]

Interactions

PATZ1 has been shown to interact with:

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000100105 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020453 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, et al. (December 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–495. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
↑ Fedele M, Franco R, Salvatore G, Paronetto MP, Barbagallo F, Pero R, et al. (April 2008). "PATZ1 gene has a critical role in the spermatogenesis and testicular tumours". The Journal of Pathology. 215 (1): 39–47. doi:10.1002/path.2323. PMID 18241078. S2CID 19437294.
↑ 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 Biochimica et Biophysica Sinica. 40 (4). Shanghai: 289–296. doi:10.1111/j.1745-7270.2008.00405.x. PMID 18401526.
1 2 3 4 "Entrez Gene: PATZ1 POZ (BTB) and AT hook containing zinc finger 1".
1 2 Pero R, Lembo F, Palmieri EA, Vitiello C, Fedele M, Fusco A, et al. (February 2002). "PATZ attenuates the RNF4-mediated enhancement of androgen receptor-dependent transcription". The Journal of Biological Chemistry. 277 (5): 3280–3285. doi:10.1074/jbc.M109491200. PMID 11719514.
↑ 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". The Journal of Biological Chemistry. 277 (10): 8566–8571. doi:10.1074/jbc.M110392200. PMID 11751862.
↑ Fedele M, Benvenuto G, Pero R, Majello B, Battista S, Lembo F, et al. (March 2000). "A novel member of the BTB/POZ family, PATZ, associates with the RNF4 RING finger protein and acts as a transcriptional repressor". The Journal of Biological Chemistry. 275 (11): 7894–7901. doi:10.1074/jbc.275.11.7894. PMID 10713105.

Sanger Centre T, Washington University Genome Sequencing Cente T (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Kobayashi A, Yamagiwa H, Hoshino H, Muto A, Sato K, Morita M, et al. (2000). "A Combinatorial Code for Gene Expression Generated by Transcription Factor Bach2 and MAZR (MAZ-Related Factor) through the BTB/POZ Domain". Molecular and Cellular Biology. 20 (5): 1733–1746. doi:10.1128/MCB.20.5.1733-1746.2000. PMC 85356. PMID 10669750.
Mastrangelo T, Modena P, Tornielli S, Bullrich F, Testi MA, Mezzelani A, et al. (2000). "A novel zinc finger gene is fused to EWS in small round cell tumor". Oncogene. 19 (33): 3799–3804. doi:10.1038/sj.onc.1203762. PMID 10949935. S2CID 24580332.
Mitchelmore C, Kjaerulff KM, Pedersen HC, Nielsen JV, Rasmussen TE, Fisker MF, et al. (2002). "Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms. Association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia". The Journal of Biological Chemistry. 277 (9): 7598–7609. doi:10.1074/jbc.M110023200. PMID 11744704.
Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biology. 5 (10) R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000100105 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[Dunham_1999-5] Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, et al. (December 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–495. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.

[Fedele_2008-6] Fedele M, Franco R, Salvatore G, Paronetto MP, Barbagallo F, Pero R, et al. (April 2008). "PATZ1 gene has a critical role in the spermatogenesis and testicular tumours". The Journal of Pathology. 215 (1): 39–47. doi:10.1002/path.2323. PMID 18241078. S2CID 19437294.

[Tian_2008-7] 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 Biochimica et Biophysica Sinica. 40 (4). Shanghai: 289–296. doi:10.1111/j.1745-7270.2008.00405.x. PMID 18401526.

[entrez-8] 1 2 3 4 "Entrez Gene: PATZ1 POZ (BTB) and AT hook containing zinc finger 1".

[Pero_2002-9] 1 2 Pero R, Lembo F, Palmieri EA, Vitiello C, Fedele M, Fusco A, et al. (February 2002). "PATZ attenuates the RNF4-mediated enhancement of androgen receptor-dependent transcription". The Journal of Biological Chemistry. 277 (5): 3280–3285. doi:10.1074/jbc.M109491200. PMID 11719514.

[Morii_2002-10] 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". The Journal of Biological Chemistry. 277 (10): 8566–8571. doi:10.1074/jbc.M110392200. PMID 11751862.

[Fedele_2000-11] Fedele M, Benvenuto G, Pero R, Majello B, Battista S, Lembo F, et al. (March 2000). "A novel member of the BTB/POZ family, PATZ, associates with the RNF4 RING finger protein and acts as a transcriptional repressor". The Journal of Biological Chemistry. 275 (11): 7894–7901. doi:10.1074/jbc.275.11.7894. PMID 10713105.

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