Nephronophthisis 4 Proteins (NPHP4)

NPHP4 encodes a protein involved in renal tubular development and function. Additionally we are shipping NPHP4 Antibodies (34) and and many more products for this protein.

list all proteins Gene Name GeneID UniProt
NPHP4 261734 O75161
Rat NPHP4 NPHP4 313749  
NPHP4 260305 P59240
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Top NPHP4 Proteins at antibodies-online.com

Showing 3 out of 4 products:

Catalog No. Origin Source Conjugate Images Quantity Delivery Price Details
Insect Cells Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg 70 Days
$13,741.67
Details
Insect Cells Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg 70 Days
$13,741.67
Details
Wheat germ Human GST tag 10 μg 11 to 12 Days
$414.29
Details

NPHP4 Proteins by Origin and Source

Origin Expressed in Conjugate
Human ,
,
Mouse (Murine)

More Proteins for Nephronophthisis 4 (NPHP4) Interaction Partners

Cow (Bovine) Nephronophthisis 4 (NPHP4) interaction partners

  1. retinitis pigmentosa GTPase regulator interacting protein 1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina

Human Nephronophthisis 4 (NPHP4) interaction partners

  1. Study provides evidence that KIF13B and NPHP4 are both required for establishment of a specialized caveolin-1 membrane microdomain at the ciliary transition zone, which is essential for Shh-induced accumulation of SMO in the primary cilium as well as for activation of GLI-mediated target gene expression.

  2. Inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 and NPHP4 cause unusually severe form of infantile nephronophthisis.

  3. homozygous NPHP4 truncating mutation that expands the phenotypic spectrum of NPHP4-related nephronophthisis to also include cerebello-oculo-renal syndrome and abnormal spermatogenesis causing male infertility

  4. The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate beta-catenin signaling.

  5. NPHP4 mutations are associated with cardiac laterality defects and heterotaxy.

  6. Identify NPHP4 as a negative regulator of the Hippo pathway and suggest that NPHP4 regulates cell proliferation through its effects on Hippo signaling.

  7. These results indicate the novel and independent association between single-point SNP rs1287637 in NPHP4 gene and renal function in non-diabetic Japanese population.

  8. Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken syndrome.There is evolutionary conservation of the NPHP4 gene, with an ortholog in C. elegans.

  9. Interacts with NPHP1 protein, suggesting that these two proteins participate in a common signaling pathway; identification of five different mutations in unrelated individuals with nephronophthisis

  10. part of multifunctional complex localized in actin- and microtubule-based structures

  11. two recessive mutations in NPHP4 are a rare cause of nephronophthisis, and single heterozygous NPHP4 sequence variants are three times more prevalent than two recessive mutations

  12. retinitis pigmentosa GTPase regulator interacting protein 1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina

  13. In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity.

  14. Two novel homozygous missense sequence variants in exons 18 and 21 were detected in a consanguineous family with nephronophthisis

  15. the apparent occurrence of an unusual TG 3' splice site in intron 20 is discussed

Mouse (Murine) Nephronophthisis 4 (NPHP4) interaction partners

  1. A mutation in NPHP4 in mice does not result in renal defects which are observed in human patients with mutations in NPHP4, but they do develop severe photoreceptor degeneration and extinguished rod and cone ERG responses.

  2. retinitis pigmentosa GTPase regulator interacting protein 1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina

  3. Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken. There is evolutionary conservation of the NPHP4 gene, with an orhtolog in C. elegans.

NPHP4 Protein Profile

Protein Summary

This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa.

Gene names and symbols associated with Nephronophthisis 4 Proteins (NPHP4)

  • nephrocystin 4 (NPHP4)
  • nephrocystin-4 (LOC100184720)
  • nephrocystin 4 (Nphp4)
  • nephronophthisis 4 (juvenile) homolog (human) (Nphp4)
  • 4930564O18Rik protein
  • nmf192 protein
  • NPHP4 protein
  • POC10 protein
  • SLSN4 protein

Protein level used designations for Nephronophthisis 4 Proteins (NPHP4)

nephronophthisis 4 , nephrocystin-4 , nephrocystin-4-like , POC10 centriolar protein homolog , nephroretinin , nephronophthisis 4 (juvenile) homolog

GENE ID SPECIES
419377 Gallus gallus
457887 Pan troglodytes
489625 Canis lupus familiaris
519551 Bos taurus
720707 Macaca mulatta
100059842 Equus caballus
100184720 Ciona intestinalis
100406722 Callithrix jacchus
100459715 Pongo abelii
100483045 Ailuropoda melanoleuca
261734 Homo sapiens
313749 Rattus norvegicus
260305 Mus musculus
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