Identity
HGNC
LOCATION
2q13
LOCUSID
ALIAS
JBTS4,NPH1,SLSN1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4867
MIM: 607100
HGNC: 7905
Ensembl: ENSG00000144061
Variants:
dbSNP: 4867
ClinVar: 4867
TCGA: ENSG00000144061
COSMIC: NPHP1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Anchoring of the basal body to the plasma membrane | REACTOME | R-HSA-5620912 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38293987 | 2024 | [C/EBPβ mediates expressions of downstream inflammatory factors of the tumor necrosis factor-α signaling pathway in renal tubular epithelial cells with NPHP1 knockdown]. | 0 |
| 38293987 | 2024 | [C/EBPβ mediates expressions of downstream inflammatory factors of the tumor necrosis factor-α signaling pathway in renal tubular epithelial cells with NPHP1 knockdown]. | 0 |
| 36942623 | 2023 | Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion. | 0 |
| 36948406 | 2023 | A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor. | 0 |
| 36942623 | 2023 | Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion. | 0 |
| 36948406 | 2023 | A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor. | 0 |
| 31402777 | 2021 | Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. | 2 |
| 33512896 | 2021 | SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis. | 2 |
| 34153329 | 2021 | NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. | 3 |
| 34415307 | 2021 | An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis. | 7 |
| 31402777 | 2021 | Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. | 2 |
| 33512896 | 2021 | SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis. | 2 |
| 34153329 | 2021 | NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. | 3 |
| 34415307 | 2021 | An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis. | 7 |
| 32173348 | 2020 | Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis. | 5 |
Citation
Dessen P
NPHP1 (nephrocystin 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56524/nphp1-(nephrocystin-1)
