H2AZ1 - H2A.Z variant histone 1 Gene

中文名称：H2A.Z 变体组蛋白 1

种属: Homo sapiens

同用名: H2AZ; H2A.z; H2A/z; H2AFZ; H2A.Z-1

基因 ID: 3015 | 基因类型: protein coding

关于 H2AZ1

Cytogenetic location: 4q23 Genomic coordinates (GRCh38): 4:99,948,088-99,950,275 (from NCBI)

This gene has 7 transcripts (splice variants), 203 orthologues and 27 paralogues. Ubiquitous expression in bone marrow (RPKM 195.5), lymph node (RPKM 145.5) and 24 other tissues.

功能概要

组蛋白是基本的核蛋白，负责真核生物染色体纤维的核小体结构。核小体由大约 146 bp 的 DNA 组成，包裹在由四种核心组蛋白 (H2A、H2B、H3 和 H4) 中的每一种成对组成的组蛋白八聚体周围。染色质纤维通过接头组蛋白 H1 与核小体之间的 DNA 相互作用进一步压缩，形成更高阶的染色质结构。该基因编码组蛋白 H2A 家族的一个复制独立成员，该成员不同于该家族的其他成员。对小鼠的研究表明，这种特殊的组蛋白是胚胎发育所必需的，并且表明缺乏功能性组蛋白 H2A 会导致胚胎死亡。[RefSeq 提供，2008 年 7 月]

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]

H2AZ1 基因产物(1)

mRNA	Protein	Name
NM_002106.4	NP_002097.1	histone H2A.Z

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	19633671	GOA
enables RNA polymerase II core promoter sequence-specific DNA binding	IDA IDA: 通过直接分析推断	19633671	GOA
enables chromatin DNA binding	IDA IDA: 通过直接分析推断	19834540	GOA
enables nucleosomal DNA binding	IDA IDA: 通过直接分析推断	19633671	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20473270	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to estradiol stimulus	IMP IMP: 通过突变表型推断	23637611	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	19834540	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
NOT located in Barr body	IDA IDA: 通过直接分析推断	11331621	GOA
located in euchromatin	IDA IDA: 通过直接分析推断	19834540	GOA
located in heterochromatin	IDA IDA: 通过直接分析推断	19834540	GOA
part of nucleosome	IPI IPI: 通过物理相互作用推断	24311584	GOA
located in nucleus	IDA IDA: 通过直接分析推断	11331621	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

H2AZ1 蛋白结构

Histone

0
100
128 a.a.

蛋白主名

其他名称

histone H2A.Z

H2A histone family member Z

关联疾病

疾病名称

别名

Testicular Spermatocytic Seminoma

Spermatocytic Seminoma

Floating-Harbor Syndrome

FLHS	Fhs
Pelletier-Leisti Syndrome	Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes
Leisti-Hollander-Rimoin Syndrome

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type	CHH
Mckusick Type Metaphyseal Chondrodysplasia	Metaphyseal Dysplasia Without Hypotrichosis
Cartilage Hair Hypoplasia Like Syndrome	Metaphyseal Chondrodysplasia Mckusick Type
Chhv	Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency	Cartilage-Hair Syndrome
Mckusick'S Metaphyseal Chondrodysplasia Syndrome	Metaphyseal Chondrodysplasia, Recessive Type
Autosomal Recessive Metaphyseal Chondrodysplasia

Lymph Node Carcinoma

Lymph Node Cancer	Lymph Node Neoplasm
Neoplasm Of Lymph Node

Diffuse Large B-Cell Lymphoma

Dlbcl	Diffuse Large B-Cell Lymphoma, Not Otherwise Specified
Large B-Cell Diffuse Lymphoma	Lymphoma, Large B-Cell, Diffuse
Dlbcl - [Diffuse Large B-Cell Lymphoma]	Diffuse Large Beta Cell Lymphoma

Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1	HP1
Glycolic Aciduria	Alanine-Glyoxylate Aminotransferase Deficiency
Hepatic Agt Deficiency	Oxalosis I
Primary Hyperoxaluria, Type I	Serine:Pyruvate Aminotransferase Deficiency
Hyperoxaluria, Primary, Type 1	Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency	Serine Pyruvate Aminotransferase Deficiency
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Oxalosis 1
Hyperoxaluria Primary 1	Hyperoxaluria Primary Type I
Ph1	Primary Hyperoxaluria Type I
Oxalosis Type 1	2-Oxoglutarate Glyoxylate Carboligase Deficiency

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

Rapp-Hodgkin Syndrome

RHS	Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate
Ectodermal Dysplasia, Rapp-Hodgkin Type	Rapp-Hodgkin Ectodermal Dysplasia Syndrome
Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate	Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type
Edrh	Rapp-Hodgkin Ectodermal Dysplasia
Orofacial Cleft 8

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-RS05958	H2AZ1 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	H2AZ1	VGNC	VGNC:83610
Rattus norvegicus	H2AZ1	RGD	RGD:621464
Felis catus	H2AZ1	VGNC	VGNC:109893
Mus musculus	H2AZ1	MGD	MGI:1888388
Macaca mulatta	H2AZ1	VGNC	VGNC:109696

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