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

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

Homo sapiens

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

Gene ID: 23598 | Gene type: protein coding

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

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)

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  • 687 a.a.
Protein Preferred Names Protein Names

POZ-, AT hook-, and zinc finger-containing protein 1

BTB-POZ domain zinc finger transcription factor

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