RPGRIP1L Antibody
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Description
Definition and Function of RPGRIP1L Antibody
The RPGRIP1L antibody is an immunological reagent designed to bind specifically to the RPGRIP1L protein, a component localized to primary cilia, basal bodies, and centrosomes. This protein is implicated in ciliopathies such as Joubert syndrome and Meckel syndrome, as well as metabolic and oncogenic processes .
Key Applications in Research
RPGRIP1L antibodies are utilized in:
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Immunofluorescence (IF): To visualize RPGRIP1L localization at ciliary bases and centrosomes (e.g., colocalization with nephrocystin-4 in retinal cells) .
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Co-immunoprecipitation (Co-IP): To study protein interactions, such as RPGRIP1L’s binding with RPGR (retinitis pigmentosa GTPase regulator) .
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Western Blot (WB): To validate protein expression levels in tissues or cell lines .
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Functional Studies: Investigating RPGRIP1L’s role in proteasomal activity and ciliary signaling .
Table 1: Key Studies Involving RPGRIP1L Antibodies
Table 2: Clinical Associations Identified via Antibody-Based Methods
Clinical and Therapeutic Implications
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Ciliopathies: RPGRIP1L antibodies help diagnose mutations (e.g., JBTS7, MKS5) and study mechanisms like disrupted Shh signaling .
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Cancer: High RPGRIP1L expression correlates with poor survival in pancreatic adenocarcinoma and modulates chemosensitivity to paclitaxel .
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Obesity: Antibodies identified reduced RPGRIP1L expression in neurons with FTO locus variants, linking ciliary dysfunction to metabolic regulation .
Limitations and Future Directions
Product Specs
Buffer
PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. Store at -20°C. Avoid repeated freeze-thaw cycles.
Lead Time
Generally, we can ship the products within 1-3 business days after receiving your orders. Delivery time may vary depending on the purchasing method or location. Please consult your local distributors for specific delivery times.
Synonyms
CORS 3 antibody; CORS3 antibody; Fantom antibody; FTM antibody; FTM_HUMAN antibody; JBTS 1 antibody; JBTS 7 antibody; JBTS1 antibody; JBTS7 antibody; Joubert syndrome 1 antibody; Joubert syndrome 7 antibody; Meckel syndrome; type 1 antibody; Meckel syndrome; type 5 antibody; MKS 5 antibody; MKS5 antibody; Nephrocystin-8 antibody; NPHP 8 antibody; NPHP8 antibody; Protein fantom antibody; Retinitis pigmentosa GTPase regulator interacting protein 1 like antibody; RPGR interacting protein 1 like protein antibody; RPGR-interacting protein 1-like protein antibody; RPGRIP1 like protein antibody; RPGRIP1-like protein antibody; Rpgrip1l antibody
Target Names
RPGRIP1L
Uniprot No.
Target Background
Function
RPGRIP1L negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). It may be involved in various mechanisms, including programmed cell death, craniofacial development, limb patterning, and left-right axis formation. RPGRIP1L plays a role in organizing apical junctions, potentially through a NPHP1-4-8 module. While not strictly required for ciliogenesis, it is involved in establishing planar cell polarity, as observed in the cochlear sensory epithelium. This function likely involves stabilizing disheveled proteins. RPGRIP1L regulates proteasomal activity at the primary cilium, possibly through association with PSDM2.
Gene References Into Functions
- Research has shown no significant association between RPGRIP1L and BMI in Chinese women. PMID: 29657248
- Studies have identified RPGRIP1L as a novel MyoVa-binding protein, the first to be demonstrated to interact with MyoVa at the centrosome. This discovery establishes a previously unknown link between MyoVa and ciliogenesis, offering new insights into the neurological disorders associated with MyoVa defects in Griscelli syndrome patients. PMID: 28266547
- Notably, one Japanese and one Omani family exhibited compound biallelic mutations in two distinct genes: TMEM67/RPGRIP1L and TMEM138/BBS1, respectively. PMID: 27434533
- KIAA1005 (rs3213758) has been linked to single nucleotide polymorphisms in Korean patients with both non-segmental and segmental types of a specific condition. PMID: 23678272
- All Spanish families diagnosed with Alstrom syndrome were homozygous for the 229A allele of RPGRIP1L, except for one patient who was heterozygous for p.A229T. PMID: 22876109
- Evidence suggests a connection between RPGRIP1L gene and susceptibility to Vascular Dementia. PMID: 22425971
- Genetic variation may influence the severity of X-linked retinitis pigmentosa. PMID: 22183348
- Research indicates that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L are associated with severe disease in XlRP with RPGR mutations. PMID: 21857984
- The interaction of Nek4 with both RPGRIP1 and RPGRIP1L is involved in cilium assembly. PMID: 21685204
- Insulin has been identified as a key factor regulating FTM expression during human preadipocyte differentiation. PMID: 20865646
- CSPP isoforms require their common C-terminal domain to interact with Nephrocystin 8 (NPHP8/RPGRIP1L) and form a ternary complex with NPHP8 and NPHP4. PMID: 20519441
- RPGRIP1L interacts with retinitis pigmentosa GTPase, whose loss causes retinal degeneration. PMID: 19430481
- Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L. PMID: 19574260
- RPGRIP1L is responsible for Joubert syndrome, a condition affecting cilia and basal bodies. PMID: 17558407
- Mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities observed in cerebello-oculo-renal syndrome or Meckel syndrome. PMID: 17558409
- The T615P mutation is the most common mutation in the RPGRIP1L gene, causing disease in approximately 8-10% of Joubert syndrome type B patients who do not have NPHP1, NPHP6, or AHI1 mutations. PMID: 17960139
- Research explores the regulation of Fto/Ftm gene expression by CUTL1. PMID: 18256137
- Mutations in RPGRIP1L expand the clinical spectrum of ciliopathies. PMID: 18281315
- RPGRIP1L mutations are primarily confined to the cerebello-renal subgroup, representing a relatively rare cause of JSRD (less than 2%). PMID: 18565097
- Data suggest that RPGRIP1L suppresses anchorage-independent growth, potentially through the mitotic checkpoint protein Mad2. PMID: 19410446
Database Links
Involvement In Disease
Joubert syndrome 7 (JBTS7); Meckel syndrome 5 (MKS5); COACH syndrome (COACHS)
Protein Families
RPGRIP1 family
Subcellular Location
Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction.
Tissue Specificity
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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