NPHP1 antibody | MyBioSource MBS9403541 product information

product summary

company name :

MyBioSource

product type :

antibody

product name :

NPHP1 antibody

catalog :

MBS9403541

quantity :

0.1 mL

price :

255 USD

clonality :

polyclonal

host :

rabbit

conjugate :

nonconjugated

reactivity :

human, mouse, rat

application :

western blot, immunocytochemistry

more info or order :

MyBioSource product webpage

image

image 1 :

Immunofluorescence analysis of U2OS cell using NPHP1 antibody. Blue: DAPI for nuclear staining.

product information

catalog number :

MBS9403541

products type :

Antibody

products full name :

NPHP1 antibody

products short name :

[NPHP1]

products name syn :

[NPH1; JBTS4; SLSN1]

other names :

[nephrocystin-1 isoform 1; Nephrocystin-1; nephrocystin-1; nephronophthisis 1 (juvenile); Juvenile nephronophthisis 1 protein]

products gene name :

[NPHP1]

other gene names :

[NPHP1; NPHP1; NPH1; JBTS4; SLSN1; NPH1]

uniprot entry name :

NPHP1_HUMAN

clonality :

Polyclonal

host :

Rabbit

reactivity :

Human, Mouse, Rat

specificity :

The antibody detects endogenous level of total NPHP1 antibody.

purity :

Antibodies were purified by affinity purification using immunogen.

form :

Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.

concentration :

1.0 mg/ml

storage stability :

Store at -20°C

tested application :

Western Blot (WB), Immunofluorescence (IF)

app notes :

Western blotting: 1:500 - 1:2000. Immunofluorescence: 1:50 - 1:100

image1 heading :

Immunofluorescence (IF)

other info1 :

Immunogen Type: Recombinant Protein. Immunogen Description: Recombinant protein of human NPHP1.

other info2 :

Target Name: NPHP1

products categories :

Total protein Ab

products 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.

ncbi gi num :

46397398

ncbi acc num :

NP_000263.2

ncbi gb acc num :

NM_000272.3

uniprot acc num :

O15259

ncbi mol weight :

83,428 Da

ncbi pathways :

Anchoring Of The Basal Body To The Plasma Membrane Pathway (1268847); Assembly Of The Primary Cilium Pathway (1268846); Organelle Biogenesis And Maintenance Pathway (1268838)

ncbi summary :

uniprot summary :

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; tight junction; membrane; intercellular junction; cytosol; photoreceptor connecting cilium. Molecular Function: protein binding; structural molecule activity. Biological Process: cell-cell adhesion; spermatid differentiation; cell projection organization and biogenesis; retina development in camera-type eye; organelle organization and biogenesis; actin cytoskeleton organization and biogenesis; signal transduction; excretion; visual behavior. Disease: Senior-loken Syndrome 1; Nephronophthisis 1; Joubert Syndrome 4

size1 :

0.1 mL

price1 :

255 USD

more info or order :

MyBioSource product webpage