MYSM1 Gene Summary [Human]
Enables histone binding activity; peptidase activity; and transcription coactivator activity. Involved in several processes, including chromatin remodeling; monoubiquitinated histone H2A deubiquitination; and positive regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Part of protein-containing complex. Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MYSM1 |
| Official Name | Myb like, SWIRM and MPN domains 1 [Source:HGNC Symbol;Acc:HGNC:29401] |
| Ensembl ID | ENSG00000162601 |
| Bio databases IDs | |
| Aliases | Myb like, SWIRM and MPN domains 1 |
| Synonyms | 2A-DUB, BMFS4, C130067A03RIK, C530050H10Rik, LOC100047941, Myb like, SWIRM and MPN domains 1, RGD1311787 |
| 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 MYSM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SANT
- metallopeptidase
- histone binding
- SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
- Mpr1p, Pad1p N-terminal (MPN) domains
- transcription co-activator
- Myb-like DNA-binding domain
- SWIRM domain
- enzyme
- protein binding
- ubiquitin-like-specific protease
Pathways
Biological processes and signaling networks where the MYSM1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic retinopathy
- bone marrow failure syndrome type 4
- transverse aortic constriction-induced cardiac hypertrophy
- diabetes mellitus
- cardiac hypertrophy
- anemia
- colorectal cancer
- exhaustion
role in cell
- apoptosis
- migration
- development
- number
- quantity
- function
- remodeling
- cycling
- ubiquitination in
- recruitment 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
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYSM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of hair follicle development
- chromatin remodeling
- pigmentation
- proteolysis
- positive regulation of transcription from RNA polymerase II promoter
- regulation of cell migration
- immune system process
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- macromolecular complex
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- transcription coactivator activity
- metal ion binding
- histone binding