RPGRIP1L Antibody (N-term) Blocking Peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Primary Accession | Q68CZ1 |
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Clone Names | 90723109 |
Gene ID | 23322 |
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Other Names | Protein fantom, Nephrocystin-8, RPGR-interacting protein 1-like protein, RPGRIP1-like protein, RPGRIP1L, FTM, KIAA1005, NPHP8 |
Target/Specificity | The synthetic peptide sequence used to generate the antibody AP8567a was selected from the N-term region of human RPGRIP1L. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay. |
Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
Name | RPGRIP1L |
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Synonyms | FTM, KIAA1005, NPHP8 |
Function | Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). 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 (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity). |
Cellular Location | Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8CG73, ECO:0000269|PubMed:21685204} Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q8CG73}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q8CG73}. Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. Localizes to the ciliary transition zone. {ECO:0000250|UniProtKB:Q8CG73} |
Tissue Location | Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney |
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Background
RPGRIP1L can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. This protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5).
References
Brancati,F., et.al., Clin. Genet. 74 (2), 164-170 (2008)Stratigopoulos,G., et.al., Am. J. Physiol. Regul. Integr. Comp. Physiol. 294 (4), R1185-R1196(2008)
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