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GENE AND PROTEIN SUMMARY

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Gene name

PATZ1

Description

POZ (BTB) and AT hook containing zinc finger 1

Protein class

Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Transcription factors

Protein evidence

Medium

Entrez gene summary

The protein encoded by this gene contains an A-T 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. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

4 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Medium

-

-

A-549 Lung Medium

-

-

CACO-2 Colon Medium

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-

HEK 293 Embryonal kidney Medium

-

-

HeLa Cervix Medium

-

-

Hep-G2 Liver Medium

-

-

MCF-7 Pleural effusion High

-

-

PC-3 Bone marrow Medium

-

-

RT-4 Urinary bladder High

-

-

U-2 OS Bone Medium

-

-

U-251 MG Brain Medium

-

-

ANTIBODY SUMMARY

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Pending antibodies