PATZ1 - POZ/BTB and AT hook containing zinc finger 1 Gene
Also Known as ZSG; MAZR; PATZ; RIAZ; ZBTB19; ZNF278; dJ400N23
Species: Homo sapiens
About PATZ1
This gene has 6 transcripts (splice variants), 202 orthologues, 36 paralogues and is associated with 65 phenotypes. Ubiquitous expression in ovary (RPKM 10.3), thyroid (RPKM 10.1) and 25 other tissues.
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]
PATZ1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_014323.3 | NP_055138.2 | POZ-, AT hook-, and zinc finger-containing protein 1 isoform long C |
| NM_032050.2 | NP_114439.1 | POZ-, AT hook-, and zinc finger-containing protein 1 isoform long A |
| NM_032051.2 | NP_114440.1 | POZ-, AT hook-, and zinc finger-containing protein 1 isoform short |
| NM_032052.2 | NP_114441.1 | POZ-, AT hook-, and zinc finger-containing protein 1 isoform long B |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
27107012 | GOA |
| enables ubiquitin protein ligase binding |
IPI
IPI: Inferred from physical interaction
|
10713105 | GOA |
PATZ1 Protein Structure
BTB: BTB/POZ domain (30 - 159)
zf-C2H2_4: C2H2-type zinc finger (293 - 314)
zf-H2C2_2: Zinc-finger double domain (369 - 394)
zf-H2C2_2: Zinc-finger double domain (427 - 453)
zf-C2H2: Zinc finger, C2H2 type (497 - 517)
zf-C2H2: Zinc finger, C2H2 type (605 - 628)
- 0
- 200
- 400
- 600
- 687 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
POZ-, AT hook-, and zinc finger-containing protein 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Sarcoma |
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| Alkhurma Hemorrhagic Fever |
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| Kyasanur Forest Disease |
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| Bone Epithelioid Hemangioma |
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| Small Cell Osteogenic Sarcoma |
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| Astroblastoma |
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| Chondrosarcoma, Extraskeletal Myxoid |
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| Extraosseous Chondrosarcoma |
|
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| Astroblastoma, Mn1-Altered |
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| Desmoplastic Small Round Cell Tumor |
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| Conventional Osteosarcoma |
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| Askin'S Tumor |
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| Bone Osteosarcoma |
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| Myxoid Liposarcoma |
|
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| Rhabdomyosarcoma 2 |
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| Ewing Sarcoma |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | PATZ1 | VGNC | VGNC:32595 |
| Mus musculus | PATZ1 | MGD | MGI:1891832 |
| Macaca mulatta | PATZ1 | VGNC | VGNC:97112 |
| Canis familiaris | PATZ1 | VGNC | VGNC:44274 |
| Felis catus | PATZ1 | VGNC | VGNC:64051 |
| Rattus norvegicus | PATZ1 | RGD | RGD:1308337 |
| Others | PATZ1 | NCBI |