NPHP4 Antibody (PACO56904)
- SKU:
- PACO56904
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- IHC
- Application:
- IF
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
抗体名: | NPHP4 Antibody (PACO56904) |
抗体コード: | PACO56904 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA, IHC, IF |
推奨される希釈: | ELISA:1:2000-1:10000, IHC:1:500-1:1000, IF:1:50-1:200 |
反応性: | Human |
免疫原: | Recombinant Human Nephrocystin-4 protein (397-543AA) |
憲法: | Liquid |
ストレージバッファ: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 |
精製方法: | >95%, Protein G purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
![]() | IHC image of PACO56904 diluted at 1:500 and staining in paraffin-embedded human endometrial cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system. |
![]() | Immunofluorescence staining of A549 cells with PACO56904 at 1:166, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L). |
![]() | IHC image of PACO56904 diluted at 1:500 and staining in paraffin-embedded human lung cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system. |
バックグラウンド: | Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. 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. Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ. |
シノニム: | Nephrocystin-4 (Nephroretinin), NPHP4, KIAA0673 |
UniProt Protein Function: | 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. |
UniProt Protein Details: | 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 |
NCBI 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] |
UniProt Code: | O75161 |
NCBI GenInfo Identifier: | 615276301 |
NCBI Gene ID: | 261734 |
NCBI Accession: | NP_001278522.1 |
UniProt Secondary Accession: | O75161,Q8IWC0, |
UniProt Related Accession: | O75161 |
Molecular Weight: | 99,953 Da |
NCBI Full Name: | nephrocystin-4 isoform b |
NCBI Synonym Full Names: | nephronophthisis 4 |
NCBI Official Symbol: | NPHP4 |
NCBI Official Synonym Symbols: | POC10; SLSN4 |
NCBI Protein Information: | nephrocystin-4 |
UniProt Protein Name: | Nephrocystin-4 |
UniProt Synonym Protein Names: | Nephroretinin |
Protein Family: | Nephrocystin |
UniProt Gene Name: | NPHP4 |
UniProt Entry Name: | NPHP4_HUMAN |