DISC1 Gene Summary [Human]
This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | DISC1 |
| Official Name | DISC1 scaffold protein [Source:HGNC Symbol;Acc:HGNC:2888] |
| Ensembl ID | ENSG00000162946 |
| Bio databases IDs | |
| Aliases | DISC1 scaffold protein |
| Synonyms | C1orf136, DISC1 scaffold protein, disrupted in schizophrenia 1, LOC100039084, LOC640053, SCZD9 |
| 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 DISC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TPR/MLP1/MLP2-like protein
- cytoskeletal protein binding
- self-association domain
- binding protein
- globular domain
- coiled-coil domain
- leucine zipper domain
- protein binding
- identical protein binding
- kinesin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cognitive impairment
- colorectal cancer
- idiopathic scoliosis
- schizophrenia
- Alzheimer disease
- hyperactive behavior
- pelvic organ prolapse
- amyotrophic lateral sclerosis
- schizophrenia type 9
- synaptic dysfunction
role in cell
- proliferation
- phosphorylation in
- accumulation in
- transcription in
- quantity
- binding in
- differentiation
- migration
- extension
- outgrowth
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
- nuclear fraction
- perinuclear body
- glutaminergic synapse
- intermediate filament cytoskeleton
- cytoskeleton
- presynaptic regions
- transition region of growth cone
- perinuclear region
- Nucleus
- Plasma Membrane
- basal bodies
- centrosome
- Mitochondria
- microtubules
- cytosol
- synaptic vesicles
- growth cone
- neurites
- synapse
- perikaryon
- axons
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DISC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of synapse maturation
- positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
- cilium morphogenesis
- cell proliferation in forebrain
- pyramidal neuron migration
- regulation of dendritic spine development
- positive regulation of neuroblast proliferation
- TOR signaling cascade
- positive regulation of axon extension
- microtubule cytoskeleton organization
- negative regulation of protein binding
- ubiquitin-dependent protein catabolic process
- neuron homeostasis
- neuron migration
- positive regulation of cell-matrix adhesion
- mitochondrial calcium ion homeostasis
- canonical Wnt receptor signaling pathway
- positive regulation of neuron projection development
- positive regulation of Wnt receptor signaling pathway
- response to electrical stimulus
- regulation of synaptic transmission, glutamatergic
- protein localization to centrosome
- detection of temperature stimulus involved in sensory perception of pain
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- cilium basal body
- synaptic vesicle
- kinesin complex
- microtubule
- centrosome
- perinuclear region of cytoplasm
- intermediate filament cytoskeleton
- cell body
- mitochondrion
- dynein complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- kinesin binding
- binding, bridging