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  2. H2AB1 - H2A.B variant histone 1 Gene

H2AB1 - H2A.B variant histone 1 Gene

中文名称:H2A.B 变体组蛋白 1

种属: Homo sapiens

同用名: H2A.B; H2AFB1; H2A.B.2; H2A.Bbd

基因 ID: 474382 | 基因类型: protein coding

关于 H2AB1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,884,972-154,885,558 (from NCBI)

This gene has 1 transcript (splice variant), 95 orthologues and 27 paralogues.

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。该基因编码一种不依赖于复制的组蛋白,该组蛋白是组蛋白 H2A 家族的一员。该基因是在 X 染色体上重复三次的区域的一部分,一次在 F8 基因的内含子 22 中,两次靠近 Xq 端粒。该记录代表位于 F8 基因的内含子 22 中的最着丝粒拷贝。[RefSeq 提供,2015 年 10 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 histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene. [provided by RefSeq, Oct 2015]

H2AB1 基因产物(1)

mRNA Protein Name
NM_001017990.2 NP_001017990.1 histone H2A-Bbd type 1
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA processing IMP
IMP: 通过突变表型推断
22795134 GOA
involved in nucleosome assembly IDA
IDA: 通过直接分析推断
22795134 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in euchromatin IDA
IDA: 通过直接分析推断
22795134 GOA
part of nucleosome IDA
IDA: 通过直接分析推断
22795134 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

H2AB1 蛋白结构

Histone

Histone: Core histone H2A/H2B/H3/H4 (22 - 95)

  • 0
  • 100
  • 115 a.a.
蛋白主名 其他名称

histone H2A-Bbd type 1

H2A Barr body-deficient

关联疾病

疾病名称 别名
Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Anus Benign Neoplasm

Anal Neoplasm

Anal Tumors

Neoplasm Of Anus

Anus Neoplasms

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

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus H2AB1 RGD RGD:1561666