PATZ1 - POZ/BTB and AT hook containing zinc finger 1 Gene

Also Known as ZSG; MAZR; PATZ; RIAZ; ZBTB19; ZNF278; dJ400N23

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23598

About PATZ1

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:31,325,804-31,346,346 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PATZ1 Protein Structure

BTB

BTB: BTB/POZ domain (30 - 159)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (293 - 314)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (369 - 394)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (427 - 453)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (497 - 517)

zf-C2H2

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

  • BTB-POZ domain zinc finger transcription factor

PATZ1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PATZ1 Q9HBE1 YWHAE Homo sapiens P62258 36931259
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Sarcoma
  • Connective And Soft Tissue Neoplasm

  • Tumor Of Soft Tissue And Skeleton

  • Sarcomas

  • Sarcoma - Category

Alkhurma Hemorrhagic Fever
  • Alkhumra Haemorrhagic Fever

Kyasanur Forest Disease
  • Kfd

  • Monkey Fever

  • Kfd Virus

  • Kyasanur Hemorrhagic Fever

  • Monkey Disease

  • Monkey Diseases

  • Kfd - [ Kyasanur Forest Disease]

  • Monkey Sickness

Bone Epithelioid Hemangioma
  • Bone Hemangioma

  • Hemangioma Of Bone

  • Osseous Epithelioid Hemangioma

  • Osseous Hemangioma

Small Cell Osteogenic Sarcoma
  • Small Cell Osteosarcoma

  • Round Cell Osteosarcoma

  • Osteosarcoma Small Cell

Astroblastoma
  • Cerebral Astroblastoma

Chondrosarcoma, Extraskeletal Myxoid
  • Extraskeletal Myxoid Chondrosarcoma

  • Emc

  • Myxoid Extraosseous Chondrosarcoma

Extraosseous Chondrosarcoma
  • Extraskeletal Myxoid Chondrosarcoma

Astroblastoma, Mn1-Altered
  • Cns High-Grade Neuroepithelial Tumors With Mn1 Alteration

Desmoplastic Small Round Cell Tumor
  • Dsrct

  • Desmoplastic Small Round-Cell Tumor

  • Desmoplastic Small Round-Cell Neoplasm

Conventional Osteosarcoma
  • Intracortical Osteosarcoma

  • Conventional Central Osteosarcoma

  • Intracortical Osteogenic Sarcoma

  • Medullary Osteosarcoma

Askin'S Tumor
  • Askin Tumor

  • Askin Tumour

  • Askin'S Tumour

Bone Osteosarcoma
  • Osteosarcoma Of Bone

  • Primary Osteosarcoma Of Bone

Myxoid Liposarcoma
  • Myxoid/Round Cell Liposarcoma

  • Liposarcoma, Myxoid

  • Mrcls

  • Myxoliposarcoma

  • MXLIPO

  • Liposarcoma Myxoid

  • Liposarcoma

Rhabdomyosarcoma 2
  • Alveolar Rhabdomyosarcoma

  • Rhabdomyosarcoma, Alveolar

  • Rhabdomyosarcoma Alveolar

  • RMS2

  • Rmsa

  • Rhabdomyosarcoma 2, Alveolar

  • Alveolar Childhood Rhabdomyosarcoma

  • Arms

  • Rhabdomyosarcoma, Type 2

Ewing Sarcoma
  • Neuroepithelioma

  • Ewing'S Tumor

  • Primitive Neuroectodermal Tumor

  • Ewings Sarcoma

  • Ewing'S Sarcoma

  • Peripheral Neuroepithelioma

  • ES

  • Ewings Sarcoma-Primitive Neuroectodermal Tumor

  • Localized Peripheral Primitive Neuroectodermal Tumor

  • Peripheral Primitive Neuroectodermal Tumor

  • Ewing Tumor

  • Sarcoma, Ewing'S

  • Ewing Family Of Tumors

  • Extraosseous Ewing Tumor

  • Askin Tumor

  • Ewing'S Family Localized Tumor

  • Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

  • Localized Ewing Sarcoma

  • Localized Ewing'S Sarcoma

  • Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

  • Localized Ewing'S Tumor

  • Pnet Of Thoracopulmonary Region

  • Tumor Of The Ewing Family

  • Skeletal Ewing Sarcoma

  • Osseous Ewing Sarcoma

  • Ppnet

  • Peripheral Pnet

  • Extraskeletal Ewing Sarcoma

  • Eoe

  • Extraosseous Ewing Sarcoma

  • Extraskeletal Ewing Tumor

  • Esft

  • Ewing Sarcoma Family Of Tumors

  • Pne

  • Pnet

  • Pnet Of The Chest Wall

  • Sarcoma, Ewing

  • Neuroectodermal Tumors, Primitive, Peripheral

  • Neuroectodermal Tumor, Primitive

  • Disorder Of Eye

  • Askin'S Tumor

  • Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

  • Neuroepithelioma, Peripheral

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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