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

中文名称：含 POZ/BTB 和 AT 挂钩锌指 1

种属: Homo sapiens

同用名: ZSG; MAZR; PATZ; RIAZ; ZBTB19; ZNF278; dJ400N23

基因 ID: 23598 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质含有一个 AT 钩 DNA 结合基序，通常与其他 DNA 结合结构结合，在染色质建模和转录调控中发挥重要作用。它的 Poz 结构域被认为是蛋白质-蛋白质相互作用的位点，是转录抑制所必需的，锌指包含 DNA 结合结构域。由于编码的蛋白质具有转录因子的典型特征，它被假定为基因表达的阻遏物。在小圆细胞肉瘤中，该基因通过 22q 的小倒位与 EWS 融合，然后杂交被认为是易位 (t (1; 22) (p36.1; q12) 。22 号染色体的重排涉及内含子 8 EWS 和该基因的外显子 1 产生嵌合序列，该序列包含融合到该蛋白质锌指结构域的 EWS 反式激活结构域。这是 22 号染色体染色体内重排的一个独特例子。描述了四种选择性剪接的转录物变体这个基因。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	27107012	GOA
enables ubiquitin protein ligase binding	IPI IPI: 通过物理相互作用推断	10713105	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PATZ1 蛋白结构

BTB

zf-C2H2_4

zf-H2C2_2

zf-C2H2

0
200
400
600
687 a.a.

蛋白主名

其他名称

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

BTB-POZ domain zinc finger transcription factor

PATZ1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	PATZ1	Q9HBE1	YWHAE	Homo sapiens	P62258	Crosslink	36931259

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10086	PATZ1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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