SHANK1 Gene Summary [Human]
This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]
Details
| Type | Protein Coding |
| Official Symbol | SHANK1 |
| Official Name | SH3 and multiple ankyrin repeat domains 1 [Source:HGNC Symbol;Acc:HGNC:15474] |
| Ensembl ID | ENSG00000161681 |
| Bio databases IDs | |
| Aliases | SH3 and multiple ankyrin repeat domains 1, somatostatin receptor-interacting protein |
| Synonyms | SH3 and multiple ankyrin repeat domains 1, SHAN1, Shank1a, SHANK1 isoform 3, SPANK-1, SSTRIP, synamon |
| 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 SHANK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ankyrin repeats (many copies)
- SAM domain
- G-protein-coupled receptor binding
- identical protein binding
- proline rich domain
- Ankyrin repeat
- Sterile alpha motif
- receptor signaling complex scaffold protein
- SAM domain (Sterile alpha motif)
- N-terminal or F0 domain of Talin-head FERM
- ankyrin repeats
- Domain present in PSD-95, Dlg, and ZO-1/2
- SAM (Sterile alpha motif )
- canonical PDZ domain
- Ankyrin repeats (3 copies)
- GKAP/Homer scaffold
- protein domain specific binding
- protein binding
- SPN domain
- PDZ domain
- ionotropic glutamate receptor binding
- SH3-domain binding
- Src Homology 3 domain superfamily
- binding protein
- Ubl1_cv_Nsp3_N-like
- structural molecule
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- bipolar disorder
- mental retardation
- renal clear cell adenocarcinoma
- renal clear cell cancer
- complex neurodevelopmental disorder
- neurodevelopmental disorder
- insomnia
- post-traumatic stress disorder
- breast carcinoma
role in cell
- abnormal morphology
- morphogenesis
- formation
- development
- maturation
- transmission
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
- postsynaptic density (PSD) fractions
- membrane fraction
- glutaminergic synapse
- postsynaptic region
- cellular membrane
- Plasma Membrane
- cytosol
- postsynaptic membrane
- dendritic spines
- neurites
- synaptosomes
- synapse
- perikaryon
- dendrites
- postsynaptic density
- excitatory synapses
- synaptosomal fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SHANK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- social behavior
- righting reflex
- habituation
- macromolecular complex assembly
- synapse maturation
- positive regulation of dendritic spine development
- associative learning
- olfactory behavior
- dendritic spine morphogenesis
- determination of affect
- long-term memory
- regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity
- positive regulation of excitatory postsynaptic membrane potential
- negative regulation of actin filament bundle assembly
- protein localization to synapse
- adult behavior
- neuromuscular process controlling balance
- vocalization behavior
Cellular Component
Where in the cell the gene product is active
- dendrite
- postsynaptic density
- postsynaptic membrane
- membrane
- dendritic spine
- excitatory synapse
- cytosol
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- scaffold protein binding
- somatostatin receptor binding
- ionotropic glutamate receptor binding
- identical protein binding
- protein binding
- GKAP/Homer scaffold activity
- ankyrin repeat binding
- SH3 domain binding