NPHP1 (nephrocystin 1)

2016-10-01  

Identity

HGNC
NPHP1
LOCATION
2q13
LOCUSID
4867
ALIAS
JBTS4,NPH1,SLSN1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4867
MIM: 607100
HGNC: 7905
Ensembl: ENSG00000144061

Variants:

dbSNP: 4867
ClinVar: 4867
TCGA: ENSG00000144061
COSMIC: NPHP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144061ENST00000316534O15259
ENSG00000144061ENST00000355301O15259
ENSG00000144061ENST00000393272O15259
ENSG00000144061ENST00000417665C9JNM7
ENSG00000144061ENST00000418527C9J082
ENSG00000144061ENST00000422492H7C014
ENSG00000144061ENST00000445609O15259
ENSG00000144061ENST00000449600H7C2K4

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
pituitary gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382939872024[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
382939872024[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
369426232023Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.0
369484062023A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.0
369426232023Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.0
369484062023A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.0
314027772021Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.2
335128962021SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.2
341533292021NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.3
344153072021An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis.7
314027772021Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.2
335128962021SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.2
341533292021NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.3
344153072021An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis.7
321733482020Clinical 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