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NPHP1

NPHP1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the NPHP1 gene?

The official name of this gene is “nephronophthisis 1 (juvenile).”

NPHP1 is the gene's official symbol. The NPHP1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the NPHP1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis.

How are changes in the NPHP1 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the NPHP1 gene:
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the NPHP1 gene's known or predicted involvement in human disease.

Nephronophthisis 1 (NPHP1): 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.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

Senior-Loken syndrome 1 (SLSN1): A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.[2]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

Joubert syndrome 4 (JBTS4): A 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. Joubert syndrome type 4 is a phenotypically mild form.[3]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the NPHP1 gene.
  • Joubert syndrome 4[3]This link leads to a site outside Genetics Home Reference.
  • Nephronophthisis 1[1]This link leads to a site outside Genetics Home Reference.
  • Senior-Loken syndrome 1[2]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]
[3]

Where is the NPHP1 gene located?

Cytogenetic Location: 2q13

Molecular Location on chromosome 2: base pairs 110,123,335 to 110,205,061

The NPHP1 gene is located on the long (q) arm of chromosome 2 at position 13.

The NPHP1 gene is located on the long (q) arm of chromosome 2 at position 13.

More precisely, the NPHP1 gene is located from base pair 110,123,335 to base pair 110,205,061 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about NPHP1?

You and your healthcare professional may find the following resources about NPHP1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the NPHP1 gene or gene products?

  • JBTS4
  • NPH1
  • SLSN1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding NPHP1?

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: April 21, 2014