Anti-INVS Antibody (CAB10298)
- SKU:
- CAB10298
- Product type:
- Antibody
- Reactivity:
- Human
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Metabolism
Frequently bought together:
Description
| Antibody Name: | Anti-INVS Antibody |
| Antibody SKU: | CAB10298 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human, Mouse |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-90 of human INVS (NP_055240.2). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human, Mouse |
| Positive Samples: | 293T, K-562, Mouse liver, Mouse kidney |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-90 of human INVS (NP_055240.2). |
| 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: | MNKS ENLL FAGS SLAS QVHA AAVN GDKG ALQR LIVG NSAL KDKE DQFG RTPL MYCV LADR LDCA DALL KAGA DVNK TDHS QRTA LHLA AQ |
| Gene ID: | 27130 |
| Uniprot: | Q9Y283 |
| Cellular Location: | Cell projection, Cytoplasm, Membrane, Nucleus, Peripheral membrane protein, cilium, cytoskeleton, spindle |
| Calculated MW: | 10kDa/99kDa/117kDa |
| Observed MW: | 120kDa |
| Synonyms: | INVS, INV, NPH2, NPHP2, inversin |
| Background: | This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. |
| UniProt Protein Function: | INVS: Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Defects in INVS are the cause of nephronophthisis type 2 (NPHP2); also known as infantile nephronophthisis. NPHP2 is an autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes and by the presence of cortical microcysts. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 9q31.1 Molecular Function:protein binding Disease: Nephronophthisis 2 |
| NCBI Summary: | This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012] |
| UniProt Code: | Q9Y283 |
| NCBI GenInfo Identifier: | 68565551 |
| NCBI Gene ID: | 27130 |
| NCBI Accession: | Q9Y283.2 |
| UniProt Secondary Accession: | Q9Y283,Q2NKL0, Q5W0T6, Q8IVX8, Q9BRB9, Q9Y488, Q9Y498 A2A2Y2, |
| UniProt Related Accession: | Q9Y283 |
| Molecular Weight: | 118kDa |
| NCBI Full Name: | Inversin |
| NCBI Synonym Full Names: | inversin |
| NCBI Official Symbol: | INVS |
| NCBI Official Synonym Symbols: | INV; NPH2; NPHP2 |
| NCBI Protein Information: | inversin |
| UniProt Protein Name: | Inversin |
| UniProt Synonym Protein Names: | Inversion of embryo turning homolog; Nephrocystin-2 |
| Protein Family: | Inversin |
| UniProt Gene Name: | INVS |
 | Western blot analysis of extracts of various cell lines, using INVS antibody (CAB10298) 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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