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| Cat.No | ACP16603 | Target Name | RPGRIP1L |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Protein Length | Partial | Purity | >85% (SDS-PAGE) |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q68CZ1 |
|---|
Uniprot Id
Q68CZ1
Target Species
Human
Target Name
RPGRIP1L
Target Full Name
Protein fantom
Target Function
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; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins. Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2.
Target Involvement
Joubert syndrome 7 (JBTS7); Meckel syndrome 5 (MKS5); COACH syndrome (COACHS)
Target Subcellular Location
Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction.
Target Protein Families
RPGRIP1 family
Target 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.
Target Synonyms
CORS 3; CORS3; Fantom; FTM; FTM_HUMAN; JBTS 1; JBTS 7; JBTS1; JBTS7; Joubert syndrome 1; Joubert syndrome 7; Meckel syndrome; type 1; Meckel syndrome; type 5; MKS 5; MKS5; Nephrocystin-8; NPHP 8; NPHP8; Protein fantom; Retinitis pigmentosa GTPase regulator interacting protein 1 like; RPGR interacting protein 1 like protein; RPGR-interacting protein 1-like protein; RPGRIP1 like protein; RPGRIP1-like protein; Rpgrip1l
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