MACROH2A1 - macroH2A.1 histone Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9555

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ADP-D-ribose binding	IDA IDA: Inferred from direct assay	15902274	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	23595991	GOA
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	19734898	GOA
enables double-stranded methylated DNA binding	IDA IDA: Inferred from direct assay	24071584	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	26373281	GOA
enables nucleosomal DNA binding	IDA IDA: Inferred from direct assay	20008927	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22391447	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	22194607	GOA
enables protein serine/threonine kinase inhibitor activity	IMP IMP: Inferred from mutant phenotype	22194607	GOA
enables rDNA binding	IDA IDA: Inferred from direct assay	24071584	GOA
enables structural constituent of chromatin	IDA IDA: Inferred from direct assay	21211722	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	19734898	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA repair	IDA IDA: Inferred from direct assay	21211722	GOA
involved in epigenetic regulation of gene expression	IMP IMP: Inferred from mutant phenotype	20008927	GOA
involved in establishment of protein localization to chromatin	IMP IMP: Inferred from mutant phenotype	19734898	GOA
involved in negative regulation of cell cycle G2/M phase transition	IMP IMP: Inferred from mutant phenotype	22194607	GOA
involved in negative regulation of gene expression, epigenetic	IMP IMP: Inferred from mutant phenotype	19734898	GOA
involved in negative regulation of protein localization to chromosome, telomeric region	IDA IDA: Inferred from direct assay	26373281	GOA
involved in negative regulation of protein serine/threonine kinase activity	IMP IMP: Inferred from mutant phenotype	22194607	GOA
involved in negative regulation of response to oxidative stress	IMP IMP: Inferred from mutant phenotype	23022728	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	19734898	GOA
involved in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI IGI: Inferred from genetic interaction	24071584	GOA
involved in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP IMP: Inferred from mutant phenotype	24071584	GOA
involved in positive regulation of endodermal cell differentiation	IMP IMP: Inferred from mutant phenotype	23595991	GOA
involved in positive regulation of keratinocyte differentiation	IMP IMP: Inferred from mutant phenotype	23595991	GOA
involved in positive regulation of maintenance of mitotic sister chromatid cohesion	IDA IDA: Inferred from direct assay	26373281	GOA
involved in positive regulation of response to oxidative stress	IMP IMP: Inferred from mutant phenotype	23022728	GOA
involved in regulation of lipid metabolic process	IMP IMP: Inferred from mutant phenotype	25526730	GOA
NOT involved in regulation of rDNA heterochromatin formation	IMP IMP: Inferred from mutant phenotype	24071584	GOA
involved in regulation of response to oxidative stress	IMP IMP: Inferred from mutant phenotype	23022728	GOA
involved in transcription initiation-coupled chromatin remodeling	IMP IMP: Inferred from mutant phenotype	25526730	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Barr body	IDA IDA: Inferred from direct assay	11331621	GOA
located in chromatin	IDA IDA: Inferred from direct assay	19734898	GOA
located in nuclear chromosome	IDA IDA: Inferred from direct assay	18936163	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	24071584	GOA
located in pericentric heterochromatin	IDA IDA: Inferred from direct assay	19486527	GOA
is active in site of DNA damage	IDA IDA: Inferred from direct assay	21211722	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

MACROH2A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MACROH2A1	O75367	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	32296183
Intra	MACROH2A1	O75367	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	MACROH2A1	O75367	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	MACROH2A1	O75367	FAM133A	Homo sapiens	Q8N9E0	Validated Y2H	32296183
Intra	MACROH2A1	O75367	SREK1IP1	Homo sapiens	Q8N9Q2	Validated Y2H	32296183
Intra	MACROH2A1	O75367	VCX2	Homo sapiens	Q3SXR9	Validated Y2H	32296183
Intra	MACROH2A1	O75367	H2BC15	Homo sapiens	U3KQK0	Y2H Array	32296183
Intra	MACROH2A1	O75367	H2BC15	Homo sapiens	U3KQK0	Y2H Prey Pooling	32296183
Intra	MACROH2A1	O75367	H2BC15	Homo sapiens	U3KQK0	Validated Y2H	32296183
Intra	MACROH2A1	O75367	TRIM26	Homo sapiens	Q12899	Validated Y2H	32296183
Intra	MACROH2A1	O75367	ERICH2	Homo sapiens	A1L162	Y2H Array	25416956
Intra	MACROH2A1	O75367	ERICH2	Homo sapiens	A1L162	Y2H Array	32296183
Intra	MACROH2A1	O75367	ERICH2	Homo sapiens	A1L162	Y2H Prey Pooling	32296183
Intra	MACROH2A1	O75367	ZNF622	Homo sapiens	Q969S3	Validated Y2H	32296183
Intra	MACROH2A1	O75367	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	32296183
Intra	MACROH2A1	O75367	TRAF2	Homo sapiens	Q12933	Y2H Array	32296183
Intra	MACROH2A1	O75367	TRAF2	Homo sapiens	Q12933	Validated Y2H	32296183
Intra	MACROH2A1	O75367	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	MACROH2A1	O75367	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	MACROH2A1	O75367	NKAPD1	Homo sapiens	Q6ZUT1	Validated Y2H	32296183
Intra	MACROH2A1	O75367	MAX	Homo sapiens	P61244	Pull Down	25609649

Cross: Cross-species interaction Intra: Intraspecies interaction

MACROH2A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83441	Macro H2A.1 Antibody (YA3186)	WB, ICC/IF	Mouse, Rat
HY-P83441A	Macro H2A.1 Antibody (YA3186)(PBS only)	WB, ICC/IF	Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07947	MACROH2A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MACROH2A1	NCBI