NPHP3 Gene Summary [Human]
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
Details
| Type | Retained Intron |
| Official Symbol | NPHP3 |
| Official Name | nephrocystin 3 [Source:HGNC Symbol;Acc:HGNC:7907] |
| Ensembl ID | ENSG00000113971 |
| Bio databases IDs | |
| Aliases | nephrocystin 3, Meckel syndrome, type 7, cilia and flagella associated protein 31 |
| Synonyms | 3632410F03RIK, C230078J01, CFAP31, D330020E01Rik, MKS7, nephrocystin 3, nephronophthisis 3 (adolescent), NPH3, pcy, RGD1563856, RHPD, RHPD1, SLSN3 |
| 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 NPHP3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- type IV pilus biogenesis/stability protein PilW
- Tetratricopeptide repeats
- Uso1 / p115 like vesicle tethering protein, C terminal region
- protein binding
- tetratricopeptide repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- nephronophthisis type 3
- nephronophthisis
- meckel syndrome type 7
- hepatic steatosis
- adolescent nephronophthisis
- optic atrophy
- renal-hepatic-pancreatic dysplasia type 1
- Joubert syndrome related disorder
- tapetoretinal degeneration
- polycystic kidney disease
regulates
- lipid
role in cell
- assembly
- organization
- maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cilia
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NPHP3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cilium movement involved in determination of left/right asymmetry
- kidney morphogenesis
- cilium morphogenesis
- determination of stomach left/right asymmetry
- regulation of Wnt receptor signaling pathway, planar cell polarity pathway
- determination of intestine left/right asymmetry
- establishment or maintenance of cell polarity
- atrial septum development
- convergent extension
- convergent extension involved in gastrulation
- determination of left/right symmetry
- maintenance of organ identity
- negative regulation of canonical Wnt receptor signaling pathway
- kidney development
- ureter development
- photoreceptor cell maintenance
- lipid metabolic process
- extracellular matrix organization
- Wnt receptor signaling pathway
- heart looping
- determination of liver left/right asymmetry
- lung development
- determination of pancreatic left/right asymmetry
Cellular Component
Where in the cell the gene product is active
- cilium
- cytosol
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding