MACROH2A1 - macroH2A.1 histone Gene

Homo sapiens

Also known as H2A.y; H2A/y; H2AFY; mH2A1; H2AF12M; MACROH2A1.1; macroH2A1.2

Gene ID: 9555 | Gene type: protein coding

About 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.

Summary

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 Products(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

MACROH2A1 Protein Structure

Histone

Macro

0
100
200
300
372 a.a.

Protein Preferred Names

Protein Names

core histone macro-H2A.1

H2A histone family member Y

Related Diseases

Diseases

Alias

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

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-RS07947	MACROH2A1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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

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