SLMAP Gene Summary [Human]
This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Details
| Type | Processed Transcript |
| Official Symbol | SLMAP |
| Official Name | sarcolemma associated protein [Source:HGNC Symbol;Acc:HGNC:16643] |
| Ensembl ID | ENSG00000163681 |
| Bio databases IDs | |
| Aliases | sarcolemma associated protein, Sarcolemmal-associated protein |
| Synonyms | D330001L02Rik, Miranda, mKIAA1601, Sarcol assoc prot, Sarcolemma Associated, sarcolemma associated protein, SLAP |
| 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 SLMAP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- chromosome segregation protein SMC, primarily archaeal type
- Ciliary protein causing Leber congenital amaurosis disease
- Ezrin/radixin/moesin, alpha-helical domain
- CCDC144C protein coiled-coil region
- Hyaluronan mediated motility receptor N-terminal
- Synaptonemal complex protein 1 (SCP-1)
- protein binding activity, bridging
- enzyme binding
- helix-rich Mycoplasma protein
- Forkhead associated domain
- protein binding
- forkhead associated (FHA) domain superfamily
- Tropomyosin
- RIM-binding protein of the cytomatrix active zone
- CC1_SLMAP-like
- FHA domain
- Domain of unknown function (DUF4200)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- non-insulin-dependent diabetes mellitus
- Brugada syndrome
- infantile hypertrophic pyloric stenosis
- late-onset Alzheimer disease
- chronic obstructive pulmonary disease
regulates
role in cell
- growth
- G1 phase
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cellular membrane
- smooth endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLMAP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of hippo signaling cascade
- muscle contraction
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Z disc
- centrosome
- mitochondrial membrane
- cytoplasm
- smooth endoplasmic reticulum
- sarcolemma
- M band
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein binding, bridging