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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	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

zf-C2H2_4

zf-H2C2_2

zf-C2H2

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10086	PATZ1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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