Rabbit NPHP4 Polyclonal Antibody | anti-NPHP4 antibody

NPHP4 Antibody

Cat. Num. AAA9611427

• Gene Names: NPHP4; POC10; SLSN4
• Reactivity: Human, Mouse, dog; Predicted: Bovine
• Applications: Western Blot
• Purity: The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).
• Synonyms: NPHP4; Polyclonal Antibody; NPHP4 Antibody; KIAA0673; Nephrocystin-4; nephronophthisis 4; Nephroretinin; NPHP4_HUMAN; POC10; POC10 centriolar protein homolog; SLSN4; anti-NPHP4 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, dog; Predicted: Bovine
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: NPHP4 Antibody detects endogenous levels of NPHP4.
• Purity/Purification: The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).
• Form/Format: Liquid; Phosphate buffered saline, pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
• Concentration: 1mg/ml (varies by lot)
• Sequence Length: 1426

• Applicable Applications for anti-NPHP4 antibody: Western Blot (WB)
• Application Notes: WB: 1:500-1:2000
• Immunogen: A synthesized peptide derived from human NPHP4.
• Tissue Specificity: Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.
• Fragment: Fab Fragment
• Conjugate: Unconjugated
• Subcellular Location: Nucleus; Cytoskeleton
• Preparation and Storage: Store at -20 degree C. Stable for 12 months from date of receipt.

Western Blot (WB)

(Western blot analysis of extracts from Hela cells, using NPHP4 Antibody. The lane on the left was treated with blocking peptide.)

Western Blot (WB)

(Western blot analysis of extracts from Mouse brain tissue, using NPHP4 Antibody. The lane on the left was treated with blocking peptide.)

Related Product Information for anti-NPHP4 antibody

Description: Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112). Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462).

Subunit Structure: Interacts with NPHP1 (PubMed:15661758). Interacts with NPHP1 and RPGRIP1L/NPHP8; NPHP1, NPHP4 and RPGRIP1L are proposed to form a functional NPHP1-4-8 module localized to cell-cell contacts and the ciliary transition zone; NPHP4 mediates the interaction between NPHP1 and RPGRIP1L. Interacts with IQCB1/NPHP5; the interaction likely requires additional interactors (By similarity). Interacts with RPGRIP1, CEP164, JADE1, MPP5, INADL, PARD6A, INVS, DVL2, LATS1. Interacts with INTU; INTU mediates the interaction between NPHP4 and DAAM1.

Similarity: Belongs to the NPHP4 family.

NCBI and Uniprot Product Information

• NCBI GI #: 23510323
• NCBI GeneID: 261734
• NCBI Accession #: NP_055917.1
• NCBI GenBank Nucleotide #: NP_055917.1
• UniProt Accession #: O75161
• Molecular Weight: Observed: 150 kDa; Predicted: 158 kDa
• NCBI Official Full Name: nephrocystin-4 isoform a
• NCBI Official Synonym Full Names: nephrocystin 4
• NCBI Official Symbol: NPHP4
• NCBI Official Synonym Symbols: POC10; SLSN4
• NCBI Protein Information: nephrocystin-4
• UniProt Protein Name: Nephrocystin-4
• Protein Family: Nephrocystin
• UniProt Gene Name: NPHP4
• UniProt Synonym Gene Names: KIAA0673
• UniProt Entry Name: NPHP4_HUMAN

NCBI Description

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Uniprot Description

NPHP4: Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Defects in NPHP4 are the cause of nephronophthisis type 4 (NPHP4); also known as familial juvenile nephronophthisis 4. NPHP4 is an autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome. Defects in NPHP4 are the cause of Senior-Loken syndrome type 4 (SLSN4). 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. Belongs to the NPHP4 family.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 1p36

Cellular Component: centrosome; tight junction; membrane; intercellular junction; cytosol; photoreceptor connecting cilium

Molecular Function: protein binding; structural molecule activity

Biological Process: sperm motility; cell-cell adhesion; retina development in camera-type eye; organelle organization and biogenesis; photoreceptor cell maintenance; actin cytoskeleton organization and biogenesis; signal transduction; visual behavior

Disease: Nephronophthisis 4; Senior-loken Syndrome 4