[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
TISSUE=Fetal kidney;
DOI=10.1093/hmg/6.13.2317; PubMed=9361039 [NCBI, ExPASy, EBI, Israel, Japan]
Saunier S.,
Calado J.,
Heilig R.,
Silbermann F.,
Benessy F.,
Morin G.,
Konrad M.,
Broyer M.,
Gubler M.-C.,
Weissenbach J.,
Antignac C.;
"A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.";
Hum. Mol. Genet. 6:2317-2323(1997).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] OF 3-732 (ISOFORM 4), AND ALTERNATIVE SPLICING.
DOI=10.1038/ng1097-149; PubMed=9326933 [NCBI, ExPASy, EBI, Israel, Japan]
Hildebrandt F.,
Otto E.,
Rensing C.,
Nothwang H.G.,
Vollmer M.,
Adolphs J.,
Hanusch H.,
Brandis M.;
"A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.";
Nat. Genet. 17:149-153(1997).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-121 (ISOFORMS 1/2).
TISSUE=Fetal brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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INTERACTION WITH INVS.
DOI=10.1038/ng1217; PubMed=12872123 [NCBI, ExPASy, EBI, Israel, Japan]
Otto E.A.,
Schermer B.,
Obara T.,
O'Toole J.F.,
Hiller K.S.,
Mueller A.M.,
Ruf R.G.,
Hoefele J.,
Beekmann F.,
Landau D.,
Foreman J.W.,
Goodship J.A.,
Strachan T.,
Kispert A.,
Wolf M.T.,
Gagnadoux M.F.,
Nivet H.,
Antignac C.,
Walz G., ![]()
Drummond I.A.,
Benzing T.,
Hildebrandt F.;
"Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.";
Nat. Genet. 34:413-420(2003).
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[5]
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INTERACTION WITH NPHP3.
DOI=10.1038/ng1216; PubMed=12872122 [NCBI, ExPASy, EBI, Israel, Japan]
Olbrich H.,
Fliegauf M.,
Hoefele J.,
Kispert A.,
Otto E.,
Volz A.,
Wolf M.T.,
Sasmaz G.,
Trauer U.,
Reinhardt R.,
Sudbrak R.,
Antignac C.,
Gretz N.,
Walz G.,
Schermer B.,
Benzing T.,
Hildebrandt F.,
Omran H.;
"Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.";
Nat. Genet. 34:455-459(2003).
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[6]
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INVOLVEMENT IN SLSN1.
PubMed=9856524 [NCBI, ExPASy, EBI, Israel, Japan]
Caridi G.,
Murer L.,
Bellantuono R.,
Sorino P.,
Caringella D.A.,
Gusmano R.,
Ghiggeri G.M.;
"Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.";
Am. J. Kidney Dis. 32:1059-1062(1998).
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[7]
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VARIANT NPHP1 ARG-342.
DOI=10.1067/mpd.2000.106225; PubMed=10839884 [NCBI, ExPASy, EBI, Israel, Japan]
Betz R.,
Rensing C.,
Otto E.,
Mincheva A.,
Zehnder D.,
Lichter P.,
Hildebrandt F.;
"Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.";
J. Pediatr. 136:828-831(2000).
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[8]
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INVOLVEMENT IN JBTS4.
DOI=10.1086/421846; PubMed=15138899 [NCBI, ExPASy, EBI, Israel, Japan]
Parisi M.A.,
Bennett C.L.,
Eckert M.L.,
Dobyns W.B.,
Gleeson J.G.,
Shaw D.W.W.,
McDonald R.,
Eddy A.,
Chance P.F.,
Glass I.A.;
"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.";
Am. J. Hum. Genet. 75:82-91(2004).
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- FUNCTION: Together with Cas it may play a role in the control of epithelial cell polarity. Seems to help to recruit protein tyrosine kinase 2 beta (PTK2B) to cell matrix adhesions, thereby initiating phosphorylation of PTK2B and PTK2B-dependent signaling (By similarity).
- SUBUNIT: Interacts with Crk-associated substrate (Cas), NPHP4, PTK2B and tensin. Interacts with INVS and NPHP3.
- SUBCELLULAR LOCATION: Cell junction, adherens junction (By similarity). Note=Localizes at or near the cell-cell adherens junctions (By similarity).
- ALTERNATIVE PRODUCTS:
4 named isoforms [FASTA] produced by alternative splicing.
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| Name | 2 |
| Synonyms | NPHP1-8A |
| Isoform ID | O15259-2 |
| Features which should be applied to build the isoform sequence: VSP_003424. |
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| Name | 3 |
| Isoform ID | O15259-3 |
| Note: No experimental confirmation available. |
| Features which should be applied to build the isoform sequence: VSP_010073, VSP_010074. |
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| Name | 4 |
| Isoform ID | O15259-4 |
| Features which should be applied to build the isoform sequence: VSP_024381. |
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- TISSUE SPECIFICITY: Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas.
- DOMAIN: The SH3 domain mediates the stable interaction with Cas (By similarity).
- DISEASE: Defects in NPHP1 are the cause of nephronophthisis type 1 (NPHP1) [MIM:256100]; also known as familial juvenile nephronophthisis 1. NPHP1 is an autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years.
- DISEASE: Defects in NPHP1 are the cause of Senior-Loken syndrome type 1 (SLSN1) [MIM:266900]; also known as juvenile nephronophthisis with Leber amaurosis. SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
- DISEASE: Defects in NPHP1 are the cause of Joubert syndrome type 4 (JBTS4) [MIM:609583]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS4 is a phenotypically mild form.
- SIMILARITY: Belongs to the nephrocystin-1 family.
- SIMILARITY: Contains 1 SH3 domain.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=NPHP1";.
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