MACROH2A1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MACROH2A1 |
| Official Name | macroH2A.1 histone [Source:HGNC Symbol;Acc:HGNC:4740] |
| Ensembl ID | ENSG00000113648 |
| Bio databases IDs | |
| Aliases | macroH2A.1 histone |
| Synonyms | H2AF12M, H2AFY, H2A/y, H2A.y, LOC100046770, macroH2A.1 histone, mH2A1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MACROH2A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- C-terminus of histone H2A
- nucleic acid binding
- macrodomain superfamily
- enzyme binding
- chromatin binding
- ribosomal DNA (rDNA) binding protein
- protein binding
- sequence-specific DNA binding
- DNA binding
- Histone 2A
- structural constituent of chromatin
- macro domain
- histone fold domain (HFD) superfamily
- protein serine/threonine kinase inhibitor
- binding protein
- double-stranded DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast cancer
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- macrovesicular hepatic steatosis
- endometrial cancer
- blepharitis
- organismal death
- cirrhosis
role in cell
- expression in
- proliferation
- quantity
- differentiation
- cellular reprogramming
- senescence
- mesenchymal epithelial transition
- uptake by
- tumorsphere formation by
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- centrosome
- chromosome
- nucleosomes
- nucleoplasm
- nucleoli
- XY bodies
- sex chromatin
- Barr body
- centromeres
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MACROH2A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of keratinocyte differentiation
- DNA repair
- positive regulation of maintenance of mitotic sister chromatid cohesion
- negative regulation of gene expression, epigenetic
- positive regulation of gene expression, epigenetic
- regulation of oxidative phosphorylation
- regulation of chromatin silencing at rDNA
- nucleosome assembly
- regulation of gene expression, epigenetic
- negative regulation of transcription from RNA polymerase II promoter
- dosage compensation
- heterochromatin assembly
- establishment of protein localization to chromatin
- regulation of lipid metabolic process
- negative regulation of protein serine/threonine kinase activity
Cellular Component
Where in the cell the gene product is active
- nuclear chromosome
- nucleolus
- nucleosome
- chromatin
- centromeric heterochromatin
- nucleoplasm
- condensed chromosome
- Barr body
- chromosome, telomeric region
- nucleus
- extracellular vesicular exosome
- sex chromatin
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- chromatin DNA binding
- double-stranded methylated DNA binding
- protein serine/threonine kinase inhibitor activity
- nucleosomal DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- DNA binding
- structural constituent of chromatin
- protein binding
- protein heterodimerization activity
- rDNA binding
- enzyme binding