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
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
	ganglionic eminence; ; right lobe of thyroid gland; ; right uterine tube; ; left lobe of thyroid gland; ; minor salivary gland; ; ovary; ; body of pancreas; ; body of stomach; ; prostate; ; fundus;
	Top expressed in
	thymus; ; neural tube; ; otolith organ; ; utricle; ; yolk sac; ; morula; ; mirror; ; superior frontal gyrus; ; visual cortex; ; ganglionic eminence;
	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
	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

Last updated August 19, 2023

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:

Related Research Articles

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Transcriptional regulator Kaiso is a protein that in humans is encoded by the ZBTB33 gene. This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-α2, which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.

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The BTB/POZ domain is a common structural domain contained within some proteins. It is present near the N-terminus of a fraction of zinc finger proteins and in proteins that contain the Kelch motif and a family of pox virus proteins. The BTB/POZ domain mediates homomeric dimerisation and in some instances heteromeric dimerisation. The structure of the dimerised PLZF BTB/POZ domain has been solved and consists of a tightly intertwined homodimer. The central scaffolding of the protein is made up of a cluster of alpha-helices flanked by short beta-sheets at both the top and bottom of the molecule. BTB/POZ domains from several zinc finger proteins have been shown to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes including N-CoR and SMRT. The POZ or BTB domain is also known as BR-C/Ttk or ZiN.

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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, 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. Bibcode:1999Natur.402..489D. doi: 10.1038/990031 . PMID 10591208.
↑ 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. 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 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.
1 2 "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, 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.
↑ 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.
↑ 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.

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.

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[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.

[pmid10591208-5] 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. Bibcode:1999Natur.402..489D. doi: 10.1038/990031 . PMID 10591208.

[pmid18241078-6] 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. S2CID 19437294.

[pmid18401526-7] 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.

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

[pmid11719514-9] 1 2 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.

[pmid11751862-10] 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.

[pmid10713105-11] 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.

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PATZ1

Contents

Function

Interactions

Related Research Articles

References

Further reading