SEZ6 Gene Summary [Human]
The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | SEZ6 |
| Official Name | seizure related 6 homolog [Source:HGNC Symbol;Acc:HGNC:15955] |
| Ensembl ID | ENSG00000063015 |
| Bio databases IDs | |
| Aliases | seizure related 6 homolog |
| Synonyms | BSRP-C, D11Bhm177e, seizure related 6 homolog, seizure related gene 6, Seizure related product 6 type 3 precursor |
| 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 SEZ6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CCP
- CUB
- ectodomain
- protein binding
- Sushi repeat (SCR repeat)
- SUSHI repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- early-onset schizophrenia
- Huntington disease
- seizures
role in cell
- maturation
- transmission
- abnormal morphology
- development
- excitatory postsynaptic potential
- innervation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- perinuclear region
- Endoplasmic Reticulum
- dendritic spines
- perikaryon
- dendritic shafts
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SEZ6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of dendrite development
- cerebellar Purkinje cell layer development
- regulation of excitatory postsynaptic membrane potential
- regulation of protein kinase C signaling cascade
- synapse maturation
- adult locomotory behavior
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- dendritic shaft
- dendritic spine
- endoplasmic reticulum
- neuronal cell body
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding