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PATZ1

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PATZ1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPATZ1, MAZR, PATZ, RIAZ, ZBTB19, ZNF278, ZSG, dJ400N23, POZ/BTB and AT hook containing zinc finger 1
External IDsOMIM: 605165; MGI: 1891832; HomoloGene: 8636; GeneCards: PATZ1; OMA:PATZ1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 11: 3.24 – 3.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

Function

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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

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PATZ1 has been shown to interact with:

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100105Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020453Ensembl, 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. Bibcode:1999Natur.402..489D. 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. S2CID 19437294.
  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. ^ a b "Entrez Gene: PATZ1 POZ (BTB) and AT hook containing zinc finger 1".
  9. ^ a b 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

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