RPGRIP1L sirna

RPGRIP1L siRNA (Human)

Cat. Num. AAA8227374

• Gene Names: RPGRIP1L; FTM; MKS5; CORS3; JBTS7; NPHP8; PPP1R134
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: RPGRIP1L; RPGRIP1L siRNA (Human); FTM; KIAA1005; NPHP8; Protein fantom; Nephrocystin-8; RPGR-interacting protein 1-like protein; RPGRIP1-like protein; RPGRIP1L sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: RPGRIP1L siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 1,235

• Applicable Applications for RPGRIP1L sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human RPGRIP1L gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for RPGRIP1L sirna

siRNA to inhibit RPGRIP1L expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 189217904
• NCBI GeneID: 23322
• NCBI Accession #: NP_001121369.1
• NCBI GenBank Nucleotide #: NM_001127897.2
• UniProt Accession #: Q68CZ1; Q9Y2K8; A0PJ88
• Molecular Weight: 142,792 Da
• NCBI Official Full Name: protein fantom isoform b
• NCBI Official Synonym Full Names: RPGRIP1-like
• NCBI Official Symbol: RPGRIP1L
• NCBI Official Synonym Symbols: FTM; MKS5; CORS3; JBTS7; NPHP8; PPP1R134
• NCBI Protein Information: protein fantom
• UniProt Protein Name: Protein fantom
• UniProt Gene Name: RPGRIP1L
• UniProt Synonym Gene Names: FTM; KIAA1005; NPHP8; RPGRIP1-like protein
• UniProt Entry Name: FTM_HUMAN

NCBI Description

The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded 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). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Uniprot Description

RPGRIP1L: Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis. Involved in the organization of apical junctions in kidney cells together with NPHP1 and NPHP4. Does not seem to be strictly required for ciliogenesis. 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 RPGRIP1L, influence the clinical outcome. Defects in RPGRIP1L are the cause of Joubert syndrome type 7 (JBTS7). JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Defects in RPGRIP1L are the cause of Meckel syndrome type 5 (MKS5). MKS is an autosomal recessive disorder 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. Defects in RPGRIP1L are a cause of COACH syndrome (COACHS). It is a disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain- hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. Belongs to the RPGRIP1 family. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 16q12.2

Cellular Component: centrosome; tight junction; cytoplasm; intercellular junction; axoneme; cytosol; cilium

Molecular Function: protein binding; thromboxane A2 receptor binding

Biological Process: embryonic forelimb morphogenesis; pericardium development; camera-type eye development; negative regulation of G-protein coupled receptor protein signaling pathway; in utero embryonic development; olfactory bulb development; organelle organization and biogenesis; neural tube patterning; establishment and/or maintenance of cell polarity; liver development; embryonic hindlimb morphogenesis; corpus callosum development; cerebellum development; cilium biogenesis; establishment of planar polarity; kidney development; determination of left/right symmetry; nose development; lateral ventricle development; regulation of smoothened signaling pathway

Disease: Coach Syndrome; Meckel Syndrome, Type 5; Joubert Syndrome 1; Joubert Syndrome 7