Nphp1 Gene Summary [Mouse]
Involved in several processes, including photoreceptor cell outer segment organization; retina development in camera-type eye; and spermatid differentiation. Located in ciliary base; cytoplasm; and photoreceptor distal connecting cilium. Is expressed in several structures, including central nervous system; genitourinary system; gut; respiratory system; and white fat. Used to study nephronophthisis 1. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1. Orthologous to human NPHP1 (nephrocystin 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Nphp1 |
| Official Name | nephronophthisis 1 (juvenile) homolog (human) [Source:MGI Symbol;Acc:MGI:1858233] |
| Ensembl ID | ENSMUSG00000027378 |
| Bio databases IDs | |
| Aliases | nephronophthisis 1 (juvenile) homolog (human) |
| Synonyms | JBTS4, LOC680233, LOC688095, NEPHROCYSTIN, nephrocystin 1, nephronophthisis 1 (juvenile) homolog (human), NPH1, SLSN1 |
| Species | Mouse, Mus musculus |
| 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 mouse Nphp1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- coiled-coil domain
- protein binding
- 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
- nephronophthisis
- familial juvenile nephronophthisis
- Joubert syndrome with renal defect
- Senior-Loken syndrome 1
- Joubert syndrome related disorder
- Cogan-type congenital oculomotor apraxia
- hereditary disorder
- neuroticism
- oligozoospermia
- NPHP1-related disorder
role in cell
- abnormal morphology
- differentiation
- assembly
- organization
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- motile cilia
- ciliary transition zone
- Cytoplasm
- cilia
- intercellular junctions
- cytosol
- connecting cilia
- anchoring junction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Nphp1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- retina development in camera-type eye
- cell projection organization
- spermatid differentiation
- protein localization involved in establishment of planar polarity
- actin cytoskeleton organization
- visual behavior
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- tight junction
- adherens junction
- motile cilium
- cytoskeleton
- cell-cell junction
- cytoplasm
- membrane
- cilium
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- structural molecule activity