Rabbit anti-Human RPGRIP1L Polyclonal Antibody

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