Anti-Nephrocystin-3 Antibody (CAB8580)
- SKU:
- CAB8580
- Product type:
- Antibody
- Application:
- WB
- Reactivity:
- Human
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Metabolism
Frequently bought together:
Description
| Antibody Name: | Anti-Nephrocystin-3 Antibody |
| Antibody SKU: | CAB8580 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human, Mouse |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-130 of human NPHP3 (NP_694972.3). |
| Application: | WB |
| Recommended Dilution: | WB 1:200 - 1:2000 |
| Reactivity: | Human, Mouse |
| Positive Samples: | 293T, Mouse liver |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-130 of human NPHP3 (NP_694972.3). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | MGTA SSLV SPAG GEVI EDTY GAGG GEAC EIPV EVKP KARL LRNS FRRG AGAA AGAG PGSL PRGV GAGG LLGA SFKS TGSS VPEL EYAA AEYE RLRK EYEI FRVS KNQE LLSM GRRE AKLD TENK RLRA EL |
| Gene ID: | 27031 |
| Uniprot: | Q7Z494 |
| Cellular Location: | Cell projection, cilium |
| Calculated MW: | 15kDa/19kDa/26kDa/71kDa/73kDa/79kDa/150kDa |
| Observed MW: | 151kDa |
| Synonyms: | NPHP3, CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3 |
| Background: | This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. |
| UniProt Protein Function: | NPHP3: Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. Defects in NPHP3 are the cause of nephronophthisis type 3 (NPHP3); also known as adolescent nephronophthisis. NPHP3 is a autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction. Defects in NPHP3 are a cause of renal-hepatic-pancreatic dysplasia (RHPD). RHPD is an autosomal recessive disorder with variable expression, and patients surviving the neonatal period progress to renal and hepatic failure which can be treated successfully with combined liver-kidney transplantation. Defects in NPHP3 are the cause of Meckel syndrome type 7 (MKS7). It is a form of Meckel syndrome, an autosomal recessive disorder. It is characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. 7 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 3q22.1 Cellular Component: cilium; cytosol Molecular Function:protein binding Biological Process: convergent extension involved in gastrulation; determination of left/right symmetry; heart looping; kidney development; lung development; maintenance of organ identity; photoreceptor cell maintenance Disease: Meckel Syndrome, Type 7; Nephronophthisis 3; Renal-hepatic-pancreatic Dysplasia 1 |
| NCBI Summary: | This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011] |
| UniProt Code: | Q7Z494 |
| NCBI GenInfo Identifier: | 68565783 |
| NCBI Gene ID: | 27031 |
| NCBI Accession: | Q7Z494.1 |
| UniProt Secondary Accession: | Q7Z494,Q5JPE3, Q5JPE6, Q68D99, Q6NVH3, Q7Z492, Q7Z493 Q8N9R2, Q8NCM5, Q96N70, Q96NK2, |
| UniProt Related Accession: | Q7Z494 |
| Molecular Weight: | 15,798 Da |
| NCBI Full Name: | Nephrocystin-3 |
| NCBI Synonym Full Names: | nephronophthisis 3 (adolescent) |
| NCBI Official Symbol: | NPHP3 |
| NCBI Official Synonym Symbols: | MKS7; NPH3; RHPD; RHPD1; SLSN3; CFAP31 |
| NCBI Protein Information: | nephrocystin-3 |
| UniProt Protein Name: | Nephrocystin-3 |
| Protein Family: | Nephrocystin |
| UniProt Gene Name: | NPHP3 |
| UniProt Entry Name: | NPHP3_HUMAN |
 | Western blot analysis of extracts of various cell lines, using NPHP3 antibody (CAB8580) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s. |
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