SPEG Gene Summary [Human]
This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
Details
| Type | Protein Coding |
| Official Symbol | SPEG |
| Official Name | striated muscle enriched protein kinase [Source:HGNC Symbol;Acc:HGNC:16901] |
| Ensembl ID | ENSG00000072195 |
| Bio databases IDs | |
| Aliases | striated muscle enriched protein kinase, striated muscle preferentially expressed protein kinase |
| Synonyms | APEG-1, BPEG, CNM5, D1Bwg1450e, mKIAA1297, MYLK6, SPEGalpha, SPEGbeta, SPEG complex locus, striated muscle enriched protein kinase |
| 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 SPEG 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 serine/threonine kinase
- Protein kinase (unclassified specificity)
- Protein tyrosine and serine/threonine kinase
- immunoglobulin domain
- Immunoglobulin I-set domain
- serine/threonine kinase domain
- protein binding
- Fibronectin type 3 domain
- Protein kinase domain
- kinase
- Serine/Threonine protein kinases, catalytic domain
- Protein Kinases, catalytic domain
- FN3
- Immunoglobulin like
- Unstructured region on SPEG complex protein
- Tyrosine kinase, catalytic domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dilated cardiomyopathy
- centronuclear myopathy type 5
- Turner syndrome
- SPEG-related congenital myopathy
- Klinefelter syndrome
- structural anomaly
role in cell
- proliferation
- production in
- generation in
- ultrastructure
- development
- contractility
- hypertrophy
- degeneration
- calcium homeostasis in
- disorganization 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
- sarcomere
- myofibrils
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPEG gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- negative regulation of cell proliferation
- muscle cell differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- protein kinase activity
- protein serine/threonine kinase activity