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  2. MACROH2A1 - macroH2A.1 histone Gene

MACROH2A1 - macroH2A.1 histone Gene

中文名称:macroH2A.1 组蛋白

种属: Homo sapiens

同用名: H2A.y; H2A/y; H2AFY; mH2A1; H2AF12M; MACROH2A1.1; macroH2A1.2

基因 ID: 9555 | 基因类型: protein coding

关于 MACROH2A1

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:135,334,381-135,399,887 (from NCBI)

This gene has 22 transcripts (splice variants), 199 orthologues, 27 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 29.8), esophagus (RPKM 11.4) 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。它取代了核小体子集中的常规 H2A 组蛋白,在那里它抑制转录并参与稳定的 X 染色体失活。可变剪接导致编码不同异构体的多个转录变体。[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. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

MACROH2A1 基因产物(8)

mRNA Protein Name
NM_001040158.2 NP_001035248.1 core histone macro-H2A.1 isoform 2
NM_001400401.1 NP_001387330.1 core histone macro-H2A.1 isoform 3
NM_001400402.1 NP_001387331.1 core histone macro-H2A.1 isoform 3
NM_001400403.1 NP_001387332.1 core histone macro-H2A.1 isoform 4
NM_001400404.1 NP_001387333.1 core histone macro-H2A.1 isoform 5
NM_004893.3 NP_004884.1 core histone macro-H2A.1 isoform 2
NM_138609.3 NP_613075.1 core histone macro-H2A.1 isoform 1
NM_138610.3 NP_613258.2 core histone macro-H2A.1 isoform 3
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 ADP-D-ribose binding IDA
IDA: 通过直接分析推断
15902274 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
23595991 GOA
enables chromatin DNA binding IDA
IDA: 通过直接分析推断
19734898 GOA
enables double-stranded methylated DNA binding IDA
IDA: 通过直接分析推断
24071584 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
26373281 GOA
enables nucleosomal DNA binding IDA
IDA: 通过直接分析推断
20008927 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22391447 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
22194607 GOA
enables protein serine/threonine kinase inhibitor activity IMP
IMP: 通过突变表型推断
22194607 GOA
enables rDNA binding IDA
IDA: 通过直接分析推断
24071584 GOA
enables structural constituent of chromatin IDA
IDA: 通过直接分析推断
21211722 GOA
enables transcription cis-regulatory region binding IDA
IDA: 通过直接分析推断
19734898 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA repair IDA
IDA: 通过直接分析推断
21211722 GOA
involved in epigenetic regulation of gene expression IMP
IMP: 通过突变表型推断
20008927 GOA
involved in establishment of protein localization to chromatin IMP
IMP: 通过突变表型推断
19734898 GOA
involved in negative regulation of cell cycle G2/M phase transition IMP
IMP: 通过突变表型推断
22194607 GOA
involved in negative regulation of gene expression, epigenetic IMP
IMP: 通过突变表型推断
19734898 GOA
involved in negative regulation of protein localization to chromosome, telomeric region IDA
IDA: 通过直接分析推断
26373281 GOA
involved in negative regulation of protein serine/threonine kinase activity IMP
IMP: 通过突变表型推断
22194607 GOA
involved in negative regulation of response to oxidative stress IMP
IMP: 通过突变表型推断
23022728 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
19734898 GOA
involved in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I IGI
IGI: 通过遗传相互作用推断
24071584 GOA
involved in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
IMP: 通过突变表型推断
24071584 GOA
involved in positive regulation of endodermal cell differentiation IMP
IMP: 通过突变表型推断
23595991 GOA
involved in positive regulation of keratinocyte differentiation IMP
IMP: 通过突变表型推断
23595991 GOA
involved in positive regulation of maintenance of mitotic sister chromatid cohesion IDA
IDA: 通过直接分析推断
26373281 GOA
involved in positive regulation of response to oxidative stress IMP
IMP: 通过突变表型推断
23022728 GOA
involved in regulation of lipid metabolic process IMP
IMP: 通过突变表型推断
25526730 GOA
NOT involved in regulation of rDNA heterochromatin formation IMP
IMP: 通过突变表型推断
24071584 GOA
involved in regulation of response to oxidative stress IMP
IMP: 通过突变表型推断
23022728 GOA
involved in transcription initiation-coupled chromatin remodeling IMP
IMP: 通过突变表型推断
25526730 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Barr body IDA
IDA: 通过直接分析推断
11331621 GOA
located in chromatin IDA
IDA: 通过直接分析推断
19734898 GOA
located in nuclear chromosome IDA
IDA: 通过直接分析推断
18936163 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
24071584 GOA
located in pericentric heterochromatin IDA
IDA: 通过直接分析推断
19486527 GOA
is active in site of DNA damage IDA
IDA: 通过直接分析推断
21211722 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

MACROH2A1 蛋白结构

Histone

Histone: Core histone H2A/H2B/H3/H4 (15 - 88)

Macro

Macro: Macro domain (216 - 329)

  • 0
  • 100
  • 200
  • 300
  • 372 a.a.
蛋白主名 其他名称

core histone macro-H2A.1

H2A histone family member Y

MACROH2A1 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
MACROH2A1 O75367 KRTAP10-8 Homo sapiens P60410
Validated Y2H
32296183
种属内
MACROH2A1 O75367 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
种属内
MACROH2A1 O75367 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
种属内
MACROH2A1 O75367 FAM133A Homo sapiens Q8N9E0
Validated Y2H
32296183
种属内
MACROH2A1 O75367 SREK1IP1 Homo sapiens Q8N9Q2
Validated Y2H
32296183
种属内
MACROH2A1 O75367 VCX2 Homo sapiens Q3SXR9
Validated Y2H
32296183
种属内
MACROH2A1 O75367 H2BC15 Homo sapiens U3KQK0
Y2H Array
32296183
种属内
MACROH2A1 O75367 H2BC15 Homo sapiens U3KQK0
Y2H Prey Pooling
32296183
种属内
MACROH2A1 O75367 H2BC15 Homo sapiens U3KQK0
Validated Y2H
32296183
种属内
MACROH2A1 O75367 TRIM26 Homo sapiens Q12899
Validated Y2H
32296183
种属内
MACROH2A1 O75367 ERICH2 Homo sapiens A1L162
Y2H Array
25416956
种属内
MACROH2A1 O75367 ERICH2 Homo sapiens A1L162
Y2H Array
32296183
种属内
MACROH2A1 O75367 ERICH2 Homo sapiens A1L162
Y2H Prey Pooling
32296183
种属内
MACROH2A1 O75367 ZNF622 Homo sapiens Q969S3
Validated Y2H
32296183
种属内
MACROH2A1 O75367 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
种属内
MACROH2A1 O75367 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
种属内
MACROH2A1 O75367 TRAF2 Homo sapiens Q12933
Validated Y2H
32296183
种属内
MACROH2A1 O75367 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
种属内
MACROH2A1 O75367 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
种属内
MACROH2A1 O75367 NKAPD1 Homo sapiens Q6ZUT1
Validated Y2H
32296183
种属内
MACROH2A1 O75367 MAX Homo sapiens P61244
Pull Down
25609649
种属间: 跨种属相互作用 种属内: 同种属相互作用

MACROH2A1 抗体

目录号 产品名 应用 反应物种
HY-P83441 Macro H2A.1 Antibody (YA3186) WB, ICC/IF Mouse, Rat

关联疾病

疾病名称 别名
Liebenberg Syndrome

Brachydactyly With Joint Dysplasia

Brachydactyly-Elbow Wrist Dysplasia Syndrome

Carpal Synostosis With Dysplastic Elbow Joints And Brachydactyly

LBNBG

Synostosis, Carpal, With Dysplastic Elbow Joints And Brachydactyly

Brachydactyly Elbow Wrist Dysplasia

Brachydactyly-Joint Dysplasia Syndrome

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

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

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

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
Canis familiaris MACROH2A1 VGNC VGNC:81622
Macaca mulatta MACROH2A1 VGNC VGNC:109697
Felis catus MACROH2A1 VGNC VGNC:81624
Mus musculus MACROH2A1 MGD MGI:1349392
Bos taurus MACROH2A1 VGNC VGNC:83608
Rattus norvegicus MACROH2A1 RGD RGD:621462