MYPN Gene Summary [Human]
Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | MYPN |
| Official Name | myopalladin [Source:HGNC Symbol;Acc:HGNC:23246] |
| Ensembl ID | ENSG00000138347 |
| Bio databases IDs | |
| Aliases | myopalladin, sarcomeric protein myopalladin, 145 kDa |
| Synonyms | 1110056A04RIK, 9830112J03, Alpha sarcomeric actinin, CMD1DD, CMH22, CMYO24, CMYP24, mKIAA4170, MYOP, myopalladin, NEM11, RCM4, α sarcomeric actinin |
| 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 MYPN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cytoskeletal protein binding
- immunoglobulin domain
- actinin binding
- Immunoglobulin like
- Immunoglobulin I-set domain
- protein binding
- proline rich domain
- SH3-domain binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic kidney disease
- dilated cardiomyopathy type 1KK
- inflammatory bowel disease
- familial restrictive cardiomyopathy type 4
- nemaline myopathy type 11
- psoriasis
- left ventricular dilation
- familial hypertrophic cardiomyopathy type 22
- chronic obstructive pulmonary disease
- systolic dysfunction
role in cell
- organization
- isometric tension
- calcium sparks 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
- intracellular membrane-bounded organelle
- Nucleus
- cytosol
- nucleoplasm
- I band
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYPN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- dendrite self-avoidance
- sarcomere organization
- axon guidance
- homophilic cell adhesion
Cellular Component
Where in the cell the gene product is active
- Z disc
- nucleus
- intracellular membrane-bounded organelle
- I band
- cytosol
- plasma membrane
- axon
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- muscle alpha-actinin binding
- SH3 domain binding
- cytoskeletal protein binding