Western Blot (WB)
(WB Suggested Anti-NPHP1 Antibody Titration: 0.2-1 ug/mlELISA Titer: 1:1562500Positive Control: Human heart)
Rabbit NPHP1 Polyclonal Antibody | anti-NPHP1 antibody
NPHP1 antibody - middle region
Western Blot (WB)
(WB Suggested Anti-NPHP1 Antibody Titration: 0.2-1 ug/mlELISA Titer: 1:1562500Positive Control: Human heart)
Western Blot (WB)
(WB Suggested Anti-NPHP1 Antibody Titration: 0.2-1 ug/mlELISA Titer: 1:1562500Positive Control: Human heart)
Target Description: Together with Cas NPHP1 may play a role in the control of epithelial cell polarity. NPHP1 seems to help to recruit protein tyrosine kinase 2 beta (PTK2B) to cell matrix adhesions, thereby initiating phosphorylation of PTK2B and PTK2B-dependent signaling.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.
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
NPHP1: 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. Does not seem to be strictly required for ciliogenesis. 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. Interacts with BCAR1, PTK2B/PYK2 and tensin. Interacts with INVS and NPHP3. Interacts with PACS1; the interaction is dependent on NPHP1 phosphorylation by CK2. Interatcs with KIF7. Interacts with AHI1 and TNK2. Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L. Interacts with IQCB1; the interaction likely requires additional interactors. 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. Expressed in nasal epithelial cells. Belongs to the nephrocystin-1 family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell adhesion
Chromosomal Location of Human Ortholog: 2q13
Cellular Component: adherens junction; cytoskeleton; cytosol; intercellular junction; membrane; photoreceptor connecting cilium; tight junction
Molecular Function: protein binding; structural molecule activity
Biological Process: actin cytoskeleton organization and biogenesis; cell projection organization and biogenesis; cell-cell adhesion; excretion; organelle organization and biogenesis; retina development in camera-type eye; signal transduction; spermatid differentiation; visual behavior
Disease: Joubert Syndrome 4; Nephronophthisis 1; Senior-loken Syndrome 1
Research Articles on NPHP1
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Product Notes
The NPHP1 nphp1 (Catalog #AAA3212551) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The NPHP1 antibody - middle region reacts with Cow, Dog, Guinea Pig, Horse, Human, Mouse, Pig, Rabbit, Rat, Zebrafish and may cross-react with other species as described in the data sheet. AAA Biotech's NPHP1 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Researchers should empirically determine the suitability of the NPHP1 nphp1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: Synthetic peptide located within the following region: GILFELGISY IRNSTGERGE LSCGWVFLKL FDASGVPIPA KTYELFLNGG. It is sometimes possible for the material contained within the vial of "NPHP1, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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