NPHS1 Gene Summary [Human]
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | NPHS1 |
| Official Name | NPHS1 adhesion molecule, nephrin [Source:HGNC Symbol;Acc:HGNC:7908] |
| Ensembl ID | ENSG00000161270 |
| Bio databases IDs | |
| Aliases | NPHS1 adhesion molecule, nephrin |
| Synonyms | CNF, nephrin, NephrinB, nephrosis 1, nephrin, NPHN, NPHS1 adhesion molecule, nephrin |
| 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 NPHS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- immunoglobulin domain
- actinin binding
- Immunoglobulin I-set domain
- spectrin binding
- protein domain specific binding
- protein binding
- Fibronectin type 3 domain
- myosin binding
- cytoplasmic domain
- FN3
- Immunoglobulin like
- immunoglobulin-like protein domain
- intracellular domain
- tail domain
- cytosolic tail domain
- Immunoglobulin V-set domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- nephrosis
- Finnish congenital nephrotic syndrome
- proteinuria
- hereditary disorder
- diabetic nephropathy
- insulin-dependent diabetes mellitus
- infantile nephrotic syndrome
- congenital nephrotic syndrome
- renal failure
- FOXO1 fusion negative rhabdomyosarcoma
role in cell
- aggregation
- binding in
- apoptosis
- adhesion
- formation
- fusion
- survival
- function
- organization
- abnormal morphology
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
- detergent-insoluble membrane fraction
- raft fractions
- membrane fraction
- cell surface
- cell periphery
- perinuclear region
- cellular membrane
- focal adhesions
- intercellular junctions
- cell-cell contacts
- basal cell surfaces
- apical membrane
- lateral plasma membrane
- pedicels
- anchoring junction
- tight junctions
- membrane rafts
- cellular protrusions
- cell-cell adherens junctions
- basement membrane
- podocyte slit diaphragm
- glomerular basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NPHS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glomerular basement membrane development
- glomerular visceral epithelial cell development
- skeletal muscle tissue development
- positive regulation of actin filament polymerization
- myoblast fusion
- slit diaphragm assembly
- gene expression
- JNK cascade
- protein localization to synapse
Cellular Component
Where in the cell the gene product is active
- slit diaphragm
- cell-cell junction
- extracellular vesicular exosome
- focal adhesion
- cell projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- cell adhesion molecule binding
- myosin binding