KIRREL1 Gene Summary [Human]
NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | KIRREL1 |
| Official Name | kirre like nephrin family adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:15734] |
| Ensembl ID | ENSG00000183853 |
| Bio databases IDs | |
| Aliases | kirre like nephrin family adhesion molecule 1, nephrin-like protein 1 |
| Synonyms | 6720469N11RIK, KIRREL, kirre like nephrin family adhesion molecule 1, NEPH1, NPHS23 |
| 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 KIRREL1 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
- myosin binding
- Immunoglobulin C1-set domain
- immunoglobulin domain
- Immunoglobulin like
- intracellular domain
- Immunoglobulin I-set domain
- protein binding
- cytosolic tail domain
- PDZ binding motif
- 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
- neoplasia
- nephrotic syndrome type 23
- proteinuria
- refractive error
- myopia
role in cell
- expression in
- phosphorylation in
- proliferation
- JQ1 resistance
- survival
- polymerization
- organization
- polarity
- effacement
- 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
- pH resistant lipid raft fraction
- Cytoplasm
- perinuclear region
- cellular membrane
- intercellular junctions
- pedicels
- podocyte filtration slit
- membrane rafts
- cellular protrusions
- dendritic shafts
- podocyte slit diaphragm
- glomerular basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIRREL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of protein phosphorylation
- glomerular filtration
- renal protein absorption
- positive regulation of actin filament polymerization
- cell-cell junction maintenance
Cellular Component
Where in the cell the gene product is active
- cell-cell junction
- perinuclear region of cytoplasm
- dendritic shaft
- membrane raft
- cell projection membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- cell adhesion molecule binding
- myosin binding