MKLN1 Gene Summary [Human]
Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | MKLN1 |
| Official Name | muskelin 1 [Source:HGNC Symbol;Acc:HGNC:7109] |
| Ensembl ID | ENSG00000128585 |
| Bio databases IDs | |
| Aliases | muskelin 1 |
| Synonyms | A130067F06RIK, LOC103690249, Muskelin, muskelin 1, muskelin 1, intracellular mediator containing kelch motifs, TWA2 |
| 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 MKLN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Galactose oxidase, central domain
- Kelch motif
- protein homodimerization
- C-terminal to LisH motif
- F5/8 type C domain
- protein binding
- Muskelin N-terminus
- identical protein binding
- LisH
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- Alzheimer disease
- melanoma
- melanoma cancer
- schizophrenia
- dementia
- androgenic alopecia
- major depression
- bipolar disorder
- lung carcinoma
regulated by
- tetrachlorodibenzodioxin
role in cell
- adhesion
- organization
- stabilization 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.
- Cytoplasm
- subsynaptic membrane
- ruffle
- cell periphery
- postsynaptic region
- cell cortex
- Nucleus
- Plasma Membrane
- granules
- cytosol
- synaptic membrane
- endosomal membrane
- nucleoplasm
- synaptic components
- synapse
- clathrin-coated pits
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MKLN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- regulation of cell shape
- regulation of receptor internalization
- signal transduction
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- ubiquitin ligase complex
- cytoplasm
- cell cortex
- ruffle
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- protein homodimerization activity