NCKIPSD Gene Summary [Human]
The protein encoded by this gene contains a nuclear localization signal. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation This protein is involved in the formation and maintenance of dendritic spines, and modulates synaptic activity in neurons. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2019]
Details
| Type | Protein Coding |
| Official Symbol | NCKIPSD |
| Official Name | NCK interacting protein with SH3 domain [Source:HGNC Symbol;Acc:HGNC:15486] |
| Ensembl ID | ENSG00000213672 |
| Bio databases IDs | |
| Aliases | NCK interacting protein with SH3 domain, dia interacting protein, diaphanous protein interacting protein, SH3 protein interacting with Nck, 90 kDa |
| Synonyms | AF3P21, DIP, DIP1, NCK interacting protein with SH3 domain, ORF1, SPIN90, VIP54, Wasbp, WASLBP, WISH |
| 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 NCKIPSD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- leucine rich domain
- central domain
- protein binding
- proline rich domain
- verproline homology domain
- Src Homology 3 domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- open-angle glaucoma
- anorexia nervosa
- complete testicular feminization syndrome
role in cell
- adhesion
- migration
- trafficking
- formation
- abnormal morphology
- polymerization
- development
- organization
- morphology
- tubulation
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
- glutaminergic synapse
- invadopodia
- cell periphery
- postsynaptic region
- Nucleus
- cytosol
- membrane ruffles
- nucleoplasm
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NCKIPSD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cytoskeleton organization
- positive regulation of neuron projection development
- endocytosis
Cellular Component
Where in the cell the gene product is active
- cytosol
- intermediate filament
- signalosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- SH3 domain binding
- cytoskeletal protein binding
- Arp2/3 complex binding