SMCR8 Gene Summary [Human]
Enables protein kinase binding activity and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of macromolecule metabolic process; regulation of TOR signaling; and regulation of macroautophagy. Located in chromatin; cytoplasm; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. Colocalizes with Atg1/ULK1 kinase complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SMCR8 |
| Official Name | SMCR8-C9orf72 complex subunit [Source:HGNC Symbol;Acc:HGNC:17921] |
| Ensembl ID | ENSG00000176994 |
| Bio databases IDs | |
| Aliases | SMCR8-C9orf72 complex subunit |
| Synonyms | 2310076G09RIK, D030073L15RIK, DENND8A, RGD1564621, SMCR8-C9orf72 complex subunit, Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) |
| 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 SMCR8 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 kinase binding
- protein kinase inhibitor activity
- guanyl-nucleotide exchange factor
- GTPase activator
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dextran sodium sulfate-induced colitis
- splenomegaly
- lymphadenopathy
role in cell
- expression in
- production in
- accumulation in
- maturation
- binding in
- hyperactivation
- ciliogenesis
- accumulation
- autophagy by
- exocytosis by
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
- Cytoplasm
- presynaptic regions
- postsynaptic region
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMCR8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of gene expression
- autophagy
- regulation of autophagy
- negative regulation of macroautophagy
- negative regulation of immune response
- positive regulation of TOR signaling cascade
- positive regulation of GTPase activity
- negative regulation of exocytosis
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- guanyl-nucleotide exchange factor complex
- cell projection
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding
- guanyl-nucleotide exchange factor activity
- GTPase activator activity
- protein kinase inhibitor activity