Affinage

RPGRIP1L

Protein fantom · UniProt Q68CZ1

Length
1315 aa
Mass
151.2 kDa
Annotated
2026-06-10
42 papers in source corpus 23 papers cited in narrative 23 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RPGRIP1L is a ciliary transition zone (TZ) scaffold protein that assembles and seals the gate at the base of the primary cilium to control ciliary protein composition and signaling (PMID:26392567). It functions as a TZ assembly factor, forming Y-shaped axoneme-to-membrane connectors through its coiled-coil and C2 domains and coordinating the MKS and NPHP protein modules to establish a ciliary zone of exclusion that confines GPCRs and inversin to the distal cilium and limits ciliary PIP2 (PMID:26392567); its N-terminal coiled-coil regions form parallel dimers required for proper cilia length, and disease mutations perturb this dimerization (PMID:36915689). RPGRIP1L acts upstream in TZ assembly by recruiting the proper amount of CEP290 to gate ciliary protein entry and exit (PMID:26982032, PMID:33625872), and excludes non-ciliary cytoplasmic proteins from the cilium while positioning NPHP4 at the TZ (PMID:30237221). It interacts with nephrocystin-4, RPGR, NEK4, and Myosin Va near the ciliary base, partnerships that support ciliogenesis and are disrupted by ciliopathy-associated mutations (PMID:17558409, PMID:19430481, PMID:21685204, PMID:28266547). At the ciliary base RPGRIP1L tunes proteostasis—maintaining proteasomal activity through interaction with the 19S subunit Psmd2 and restraining MTORC1 to permit autophagy, two functions it executes independently (PMID:26150391, PMID:29372668). Through gating and proteostasis it modulates Hedgehog/Gli signaling by setting the Gli activator-to-repressor ratio (PMID:26150391, PMID:30692221) and restrains FGF/MAPK signaling at the cilia base during neurogenesis [PMID:bio_10.1101_2025.04.14.648790], and it stabilizes Dishevelled within an inversin–NPHP4 complex to direct basal-body positioning and planar cell polarity (PMID:22927466). In the hypothalamus it promotes trafficking of the leptin receptor toward the cilium to enable leptin-induced STAT3 signaling, such that its loss produces hyperphagia and obesity (PMID:21037323, PMID:24807221, PMID:27064284). Distinct from its ciliary roles, RPGRIP1L restrains desmoglein endocytosis in keratinocytes in a cilia-independent manner (PMID:30689641).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2007 Medium

    Established RPGRIP1L as a basal body/centrosome-associated protein that physically binds nephrocystin-4, linking it to the nephronophthisis-ciliopathy protein network and explaining its mutation in ciliopathies.

    Evidence Colocalization imaging and reciprocal co-immunoprecipitation with disease-mutation disruption

    PMID:17558407 PMID:17558409

    Open questions at the time
    • Did not define the structural basis of the NPHP4 interaction
    • Did not establish the molecular function performed at the basal body
  2. 2009 Medium

    Identified RPGRIP1L as a binding partner of RPGR whose common variant modifies retinal degeneration, and uncovered a parallel cilia-independent interaction with thromboxane A2 receptors that dampens receptor signaling.

    Evidence Co-immunoprecipitation with allele-specific disruption and genetic modifier analysis; yeast two-hybrid plus functional signaling assays

    PMID:19430481 PMID:19464661

    Open questions at the time
    • RPGR interaction surface not mapped
    • Physiological relevance of the thromboxane receptor interaction in vivo unestablished
  3. 2010 Medium

    Connected RPGRIP1L to energy homeostasis by showing it is required for leptin receptor trafficking to the cilium and downstream STAT3 activation, and is transcriptionally controlled by CUX1 at the FTO locus.

    Evidence siRNA knockdown, promoter-probe assays, leptin receptor immunofluorescence and pStat3 western blot in hypothalamic/neuroblastoma cells

    PMID:21037323

    Open questions at the time
    • Mechanism of receptor recruitment to the cilium not defined
    • In vitro cell-line evidence only at this stage
  4. 2011 Medium

    Defined ciliogenic partners and conserved function: RPGRIP1L forms a complex with the kinase NEK4 needed for cilium assembly, while its C. elegans ortholog colocalizes with NPHP-4 at the TZ and supports sensory cilia and chemosensation.

    Evidence Tandem affinity purification/mass spectrometry and knockdown in mammalian cells; C. elegans genetics with dye-filling and chemotaxis assays

    PMID:21685204 PMID:21689635

    Open questions at the time
    • Whether NEK4 phosphorylates RPGRIP1L unknown
    • Substrate of NEK4 at the basal body not identified
  5. 2012 High

    Showed RPGRIP1L controls planar cell polarity by positioning the basal body and stabilizing Dishevelled within an inversin–NPHP4 complex, demonstrated through rescue in two model organisms.

    Evidence Mouse and zebrafish loss-of-function, rescue experiments, and Co-IP complex analysis

    PMID:22927466

    Open questions at the time
    • Molecular mechanism by which the complex blocks Dishevelled degradation not resolved
  6. 2015 High

    Provided the core mechanistic model: RPGRIP1L is a TZ assembly factor building Y-link connectors and coordinating MKS and NPHP modules to create a diffusion barrier that excludes GPCRs, inversin, and PIP2 from defined ciliary zones.

    Evidence C. elegans genetics, transition zone electron microscopy, domain-deletion mutagenesis, genetic epistasis, and lipid/signaling assays

    PMID:26392567

    Open questions at the time
    • Stoichiometry of MKS/NPHP module assembly not defined
    • Direct lipid-binding partner controlling PIP2 not identified
  7. 2015 High

    Linked RPGRIP1L to ciliary-base proteostasis by identifying the proteasome 19S subunit Psmd2 as a partner and showing RPGRIP1L is required for proteasomal activity that controls Shh signaling.

    Evidence Rpgrip1l-/- mouse embryos, Co-IP of Psmd2, proteasomal substrate and activity assays, Shh readouts

    PMID:26150391

    Open questions at the time
    • How RPGRIP1L stimulates proteasome activity mechanistically unknown
    • Direct proteasome substrates regulating Shh not enumerated
  8. 2016 Medium

    Placed RPGRIP1L upstream of CEP290 in a hierarchical TZ assembly pathway, with its coiled-coil region required for CEP290 recruitment.

    Evidence C. elegans genetics and interdependent localization-hierarchy analysis

    PMID:26982032

    Open questions at the time
    • Whether RPGRIP1L–CEP290 interaction is direct not shown
    • Vertebrate confirmation of the hierarchy not in this study
  9. 2017 Medium

    Identified Myosin Va as a partner binding the C2 domains of RPGRIP1L near the cilium base, implicating motor-driven transport in ciliogenesis.

    Evidence Yeast two-hybrid, Co-IP, proximity ligation assay, and dominant-negative expression in RPE cells

    PMID:28266547

    Open questions at the time
    • Cargo transported by MyoVa–RPGRIP1L not defined
    • Functional consequence of disrupting the interaction in vivo untested
  10. 2018 High

    Separated RPGRIP1L's ciliary and non-ciliary roles: it restrains MTORC1 to permit autophagy independently of its proteasomal function, and independently of cilia it restrains desmoglein endocytosis in keratinocytes.

    Evidence Rpgrip1l-/- mouse embryos with rapamycin rescue and autophagy flux assays; keratinocyte/HaCaT knockdown with biotinylation and dynasore rescue

    PMID:29372668 PMID:30689641

    Open questions at the time
    • How RPGRIP1L suppresses MTORC1 mechanistically unknown
    • Molecular link between RPGRIP1L and the desmoglein endocytic machinery not defined
  11. 2018 Medium

    Refined partner specificity, showing isoform-dependent binding to RPGRex1-19, and confirmed in algae that RPGRIP1L positions NPHP4 and excludes cytoplasmic (non-IFT) proteins from the cilium.

    Evidence Co-IP in CRISPR-engineered HEK293T cells; Chlamydomonas mutant ciliary proteomics and NPHP4 localization

    PMID:30237221 PMID:33808286

    Open questions at the time
    • Functional consequence of RPGR isoform selectivity unresolved
    • Mechanism distinguishing excluded cytoplasmic proteins from retained IFT proteins unknown
  12. 2019 Medium

    Extended the obesity and Hedgehog roles in vivo: RPGRIP1L acts in Pomc and Leprb neurons to control feeding, while in embryos it sets the Gli activator-to-repressor ratio governing forebrain/optic patterning.

    Evidence Conditional Pomc-Cre KO mice, iPSC-derived neurons with SHH assays; Rpgrip1l-/- embryos with Gli3-repressor genetic rescue

    PMID:30692221 PMID:30728336

    Open questions at the time
    • How ciliary gating translates into region-specific Gli regulation not mechanistically closed
    • Cell-autonomous versus circuit-level contributions to obesity not fully separated
  13. 2021 Medium

    Demonstrated that RPGRIP1L governs ciliary gating by maintaining CEP290 levels at the vertebrate TZ, with the flavonoid eupatilin restoring gating in deficient cells.

    Evidence Rpgrip1l-/- mouse embryos, quantitative TZ CEP290 measurement, ciliary gating assays, eupatilin rescue

    PMID:33625872

    Open questions at the time
    • Mechanism of eupatilin rescue unknown
    • Whether reduced CEP290 fully accounts for gating loss not established
  14. 2023 Medium

    Resolved a structural basis for function: the N-terminal coiled-coil region dimerizes as parallel dimers required to maintain cilia length, and disease mutations alter this dimerization.

    Evidence Structural characterization, biochemical dimerization assays, and cilia-length measurement in NIH/3T3 cells

    PMID:36915689

    Open questions at the time
    • How dimerization integrates into the full TZ scaffold not shown
    • Structure of full-length protein and its module-coordinating domains unresolved
  15. 2025 Medium

    Implicated RPGRIP1L in restraining FGF/MAPK signaling at the cilia base during human cerebellar neurogenesis, with FGF receptor inhibition rescuing Purkinje lineage formation.

    Evidence Human iPSC cerebellar organoids with RPGRIP1L null/patient variants and pharmacological FGFR inhibition (preprint)

    PMID:bio_10.1101_2025.04.14.648790

    Open questions at the time
    • Preprint, not peer-reviewed
    • How loss of ciliary gating leads to FGF/MAPK overactivation mechanistically unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How a single TZ scaffold integrates its diverse outputs—diffusion barrier, proteostasis, and parallel modulation of Hedgehog, FGF/MAPK, Wnt/PCP, and leptin signaling—into context-specific cellular decisions remains unresolved.
  • No unified model linking gating defects to specific signaling outcomes
  • Full-length structure and module-binding interfaces undefined
  • Mechanism connecting ciliary scaffolding to cilia-independent functions unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3 GO:0008092 cytoskeletal protein binding 1
Localization
GO:0005929 cilium 4 GO:0005815 microtubule organizing center 3
Pathway
R-HSA-162582 Signal Transduction 3 R-HSA-1852241 Organelle biogenesis and maintenance 2 R-HSA-392499 Metabolism of proteins 1 R-HSA-9612973 Autophagy 1
Partners
CEP290INVSMYO5ANEK4NPHP4PSMD2RPGR
Complex memberships
ciliary transition zone (MKS/NPHP modules)

Evidence

Reading pass · 23 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2007 RPGRIP1L protein colocalizes at the basal body and centrosomes with NPHP6 and NPHP4 protein products; CORS-associated missense mutations in RPGRIP1L diminish the interaction between RPGRIP1L and nephrocystin-4 (NPHP4). Colocalization imaging; co-immunoprecipitation; missense mutation analysis Nature genetics Medium 17558409
2007 RPGRIP1L interacts with nephrocystin-4 (NPHP4), and NPHP4 mutations known to cause Senior-Løken syndrome disrupt this interaction; RPGRIP1L protein localizes to basal bodies. Protein-protein interaction analyses; co-immunoprecipitation; subcellular localization imaging Nature genetics Medium 17558407
2009 RPGRIP1L interacts biochemically with RPGR (retinitis pigmentosa GTPase regulator), and the common variant A229T (Thr229-encoded protein) significantly compromises this interaction, thereby modifying retinal degeneration in ciliopathies. Biochemical interaction assay (co-immunoprecipitation); genetic modifier analysis Nature genetics Medium 19430481
2009 RPGRIP1L (KIAA1005/TPIP) directly interacts with the C-terminal region of both thromboxane A2 receptor isoforms TPα and TPβ, reduces cell-surface TP levels, and negatively regulates TP-mediated phosphoinositide hydrolysis, ERK1/2 phosphorylation, and IL-6 production. Yeast two-hybrid; co-immunoprecipitation in HEK293 cells; functional signaling assays Prostaglandins & other lipid mediators Medium 19464661
2010 Reduced expression of Rpgrip1l impairs leptin receptor isoform b (Leprb) trafficking to the vicinity of the cilium in hypothalamic/neuroblastoma cells in vitro, and this trafficking to the cilium coincides with increased leptin signaling (pStat3). CUX1 isoforms P200 and P110 regulate RPGRIP1L expression via a conserved AATAAATA element in the FTO intronic region. siRNA knockdown; promoter-probe assays; immunofluorescence for leptin receptor clustering; pStat3 western blot The Journal of biological chemistry Medium 21037323
2011 RPGRIP1L and RPGRIP1 each form a complex with the serine/threonine kinase NEK4, identified by tandem affinity purification and mass spectrometry; NEK4 localizes to basal bodies in ciliated cells and to the ciliary rootlet in ciliated organs. Downregulation of NEK4 significantly decreases cilium assembly. Tandem affinity purification combined with mass spectrometry; immunofluorescence; siRNA knockdown Human molecular genetics Medium 21685204
2012 Rpgrip1l is required for planar cell polarity: it positions the basal body along the planar polarity axis in mouse cochlea and zebrafish floor plate, stabilizes Dishevelled at the cilium base, and forms a complex with inversin and nephrocystin-4 that prevents Dishevelled degradation. Rescue experiments in zebrafish showed that the planar polarity function of Rpgrip1l is mediated through Dishevelled stabilization. Mouse and zebrafish genetic loss-of-function; rescue experiments; co-immunoprecipitation complex analysis; immunofluorescence The Journal of cell biology High 22927466
2014 Rpgrip1l hypomorphic (Rpgrip1l+/-) mice are hyperphagic and obese, display diminished suppression of food intake in response to leptin, reduced AcIII-positive cilia in the hypothalamus, and impaired convening of the leptin receptor to the vicinity of the cilium accompanied by diminished pStat3 in response to leptin. Mouse hypomorphic genetics; leptin challenge assays; immunofluorescence for cilia and leptin receptor; pStat3 measurement Cell metabolism High 24807221
2015 Rpgrip1l (MKS-5 in C. elegans) functions as an assembly factor for the ciliary transition zone (TZ), forming Y-shaped axoneme-to-membrane connectors via its coiled-coil and C2 domains; it coordinates two TZ modules (MKS and NPHP) at basal body-associated transition fibres and TZ to seal the ciliary compartment; it establishes a ciliary zone of exclusion (CIZE) that confines GPCRs and NPHP-2/inversin to distal cilia and limits PIP2 ciliary abundance. C. elegans genetics; electron microscopy (TZ ultrastructure); domain deletion analysis; genetic interaction studies; lipid/signaling assays The EMBO journal High 26392567
2015 Rpgrip1l regulates proteasomal activity specifically at the basal body/ciliary base; Psmd2 (a component of the regulatory 19S proteasomal subunit) is an interaction partner of Rpgrip1l; in Rpgrip1l-/- mouse embryos, proteasomal components localize to cilia but proteasomal activity is decreased in a cilia-dependent manner, disturbing Shh signaling. Rpgrip1l-/- mouse embryo analysis; co-immunoprecipitation (Rpgrip1l–Psmd2); quantification of proteasomal substrates; proteasomal activity assay; Shh signaling analysis The Journal of cell biology High 26150391
2016 CEP-290 in C. elegans depends on the coiled-coil region of MKS-5 (Rpgrip1L ortholog) for TZ localization, and MKS-5/Rpgrip1L acts upstream in an MKS-5- and CEP-290-dependent assembly pathway for the TZ. C. elegans genetics; interdependent localization hierarchy analysis; immunofluorescence PLoS biology Medium 26982032
2016 In vivo manipulation (knockdown/knockout) of Rpgrip1l in mice reduces adiposity and hyperphagia through diminished leptin sensitivity specifically in Leprb-expressing neurons. In vivo mouse genetics; leptin sensitivity assays; neuron-specific manipulation The Journal of clinical investigation Medium 27064284
2017 Myosin Va (MyoVa) interacts with RPGRIP1L via residues near or in the Rab11a-binding site within MyoVa's globular tail domain (GTD) and the C2 domains of RPGRIP1L; MyoVa and RPGRIP1L interact near the cilium base in ciliated RPE cells; dominant-negative MyoVa constructs result in mostly unciliated RPE cells. Yeast two-hybrid; co-immunoprecipitation; proximity ligation assay; dominant-negative expression in RPE cells Scientific reports Medium 28266547
2018 RPGRIP1L deficiency in mouse embryos causes decreased autophagic activity due to increased activation of MTORC1; rapamycin rescues dysregulated MTORC1, autophagic activity, and cilia length but not proteasomal activity, demonstrating that RPGRIP1L regulates autophagic and proteasomal activity independently. Rpgrip1l-/- mouse embryo analysis; MTORC1 activity assays; rapamycin rescue experiments; autophagic flux assays Autophagy Medium 29372668
2018 RPGRIP1L regulates desmoglein endocytosis in keratinocytes independently of cilia: RPGRIP1L knockdown induces spontaneous desmoglein endocytosis (AK23 labeling and biotinylation assays), and inhibiting endocytosis with dynasore or sucrose rescues desmosomal phenotypes. This function is cilia-independent as demonstrated in HaCaT cells lacking primary cilia. Gene knockdown (Rpgrip1l KO mice and HaCaT cells); AK23 labeling; surface biotinylation assays; dynasore/sucrose rescue; immunofluorescence PLoS genetics High 30689641
2018 RPGRex1-19 (but not RPGRskip14/15) forms interaction complexes with RPGRIP1L, as demonstrated by co-immunoprecipitation in HEK293T cells expressing specific RPGR isoforms; this indicates isoform-specific binding mediated by alternative splicing of RPGR. Co-immunoprecipitation in CRISPR-engineered HEK293T cells expressing specific RPGR isoforms International journal of molecular sciences Medium 33808286
2019 Congenital and adult-onset deletion of Rpgrip1l in Pomc-expressing neurons causes hyperphagia and obesity associated with reduction in the Pomc/Npy neuronal number ratio and increased ARH-PVH axonal projections; biallelic RPGRIP1L mutations in iPSC-derived neurons produce fewer cilia-positive neurons and blunted SHH responses. Conditional KO mouse (Pomc-Cre); neuronal counting; axonal projection analysis; iPSC-derived neuron modeling; SHH response assay JCI insight Medium 30728336
2019 In Ftm/Rpgrip1l-/- mouse embryos, Shh expression is lost in the ventral forebrain (but maintained in the ZLI) and Gli activity is severely downregulated; reintroduction of the repressor form of Gli3 into the Ftm-/- background rescues optic cup formation, demonstrating region-specific modulation of Hh/Gli activator-to-repressor ratio by Rpgrip1l. Rpgrip1l-/- mouse embryo analysis; in situ hybridization for Shh; Gli activity assays; genetic rescue (Gli3 repressor reintroduction) The Journal of neuroscience Medium 30692221
2021 Rpgrip1l governs ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone; loss of Rpgrip1l reduces Cep290 at the TZ, impairing ciliary protein entry/exit gating; the flavonoid eupatilin rescues ciliary gating in Rpgrip1l-deficient cells. Rpgrip1l-/- mouse embryo analysis; Cep290 quantification at TZ; ciliary gating assays; pharmacological rescue with eupatilin Molecular biology of the cell Medium 33625872
2018 In Chlamydomonas reinhardtii, RPGRIP1L (RPG1) is required for proper localization of NPHP4 at the transition zone and acts as part of the ciliary gate for cytoplasmic proteins (but not IFT proteins); rpg1 mutant cilia show dramatic increase in cytoplasmic proteins (involved in translation, membrane remodeling, ATP production, chaperonins), indicating RPGRIP1L excludes non-ciliary proteins from the cilium. Chlamydomonas mutant analysis; mass spectrometry-based ciliary proteome comparison; NPHP4 localization by immunofluorescence Journal of cell science Medium 30237221
2023 The N-terminal coiled-coil regions (CC12) of Rpgrip1l each form stable parallel dimers; overexpression of CC12 in NIH/3T3 cells significantly shortens primary cilia length dependent on dimer formation; disease-related mutations can alter the dimeric states of CC12. Crystallography/structural characterization; biochemical dimerization assays; overexpression in NIH/3T3 cells with cilia length measurement; disease mutation analysis iScience Medium 36915689
2011 C. elegans NPHP-8 (homologue of RPGRIP1L) co-localizes with NPHP-4 at the transition zone at the base of cilia; nphp-8 mutation leads to shorter cilia in a subset of ciliary neurons and impaired chemosensation, establishing a role in ciliogenesis and cilia-mediated sensory function. C. elegans genetics; immunofluorescence colocalization; dye-filling assay; chemotaxis assay Biochemical and biophysical research communications Medium 21689635
2025 In RPGRIP1L-deficient human cerebellar organoids, FGF/MAPK signaling pathway is overactivated (with MEK1/2 pathway effectors enriched at cilia base), causing impaired neurogenesis, increased progenitor proliferation, and severe reduction in Purkinje cell markers; pharmacological inhibition of FGF receptors reduces MEK1/2 activation at cilia base and rescues both proliferative-neurogenic balance and Purkinje lineage formation. Human iPSC-derived cerebellar organoids with RPGRIP1L null mutations or patient variants; immunofluorescence; pharmacological FGF receptor inhibition rescue bioRxivpreprint Medium bio_10.1101_2025.04.14.648790

Source papers

Stage 0 corpus · 42 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2007 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nature genetics 381 17558409
2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nature genetics 258 17558407
2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature genetics 234 19430481
2014 Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice. Cell metabolism 132 24807221
2010 Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling. The Journal of biological chemistry 118 21037323
2015 Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance. The EMBO journal 115 26392567
2009 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Journal of medical genetics 111 19574260
2016 MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. PLoS biology 110 26982032
2016 Hypomorphism of Fto and Rpgrip1l causes obesity in mice. The Journal of clinical investigation 77 27064284
2007 Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney international 72 17960139
2015 The transition zone protein Rpgrip1l regulates proteasomal activity at the primary cilium. The Journal of cell biology 69 26150391
2011 The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Human molecular genetics 58 21685204
2012 Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity. The Journal of cell biology 55 22927466
2018 The ciliary protein RPGRIP1L governs autophagy independently of its proteasome-regulating function at the ciliary base in mouse embryonic fibroblasts. Autophagy 44 29372668
2008 RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clinical genetics 42 18565097
2019 Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development. JCI insight 31 30728336
2019 The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling. The Journal of neuroscience : the official journal of the Society for Neuroscience 28 30692221
2017 The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L. Scientific reports 26 28266547
2018 The ciliary protein Rpgrip1l in development and disease. Developmental biology 24 30075108
2021 Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. Molecular biology of the cell 22 33625872
2014 The ciliopathy gene Rpgrip1l is essential for hair follicle development. The Journal of investigative dermatology 19 25398052
2018 RPGRIP1L helps to establish the ciliary gate for entry of proteins. Journal of cell science 16 30237221
2009 The basal body gene, RPGRIP1L, is a candidate tumour suppressor gene in human hepatocellular carcinoma. European journal of cancer (Oxford, England : 1990) 16 19410446
2021 The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. International journal of molecular sciences 15 33808286
2011 Caenorhabditis elegans ciliary protein NPHP-8, the homologue of human RPGRIP1L, is required for ciliogenesis and chemosensation. Biochemical and biophysical research communications 15 21689635
2019 RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis. PLoS genetics 11 30689641
2018 The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 11 29466054
2009 Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor. Prostaglandins & other lipid mediators 8 19464661
2018 A novel association of rs13334070 in the RPGRIP1L gene with adiposity factors discovered by joint linkage and linkage disequilibrium analysis in Iranian pedigrees: Tehran Cardiometabolic Genetic Study (TCGS). Genetic epidemiology 6 30597647
2012 Genetic association of the gene encoding RPGRIP1L with susceptibility to vascular dementia. Gene 6 22425971
2022 Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family. Reproductive sciences (Thousand Oaks, Calif.) 5 35233738
2019 DNA Variant in the RPGRIP1L Gene Influences Alternative Splicing. Molecular neuropsychiatry 3 32399473
2025 Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes. Stem cell research 2 40393193
2023 Structure of the N-terminal coiled-coil domains of the ciliary protein Rpgrip1l. iScience 2 36915689
2023 Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report. Medicine 2 38013309
2018 Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation. Nephron 2 29991045
2025 Downregulation of Hmox1 and Rpgrip1l Expression Linked to Risk-Taking Behavior, Reduced Depressive Symptoms, and Diminished Novelty Socialization in SUMO1 Knockout Mice. Cellular and molecular neurobiology 1 40169460
2024 Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay. Frontiers in genetics 1 39479399
2023 A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement. BMC pediatrics 1 37993833
2021 Case Report: Novel RPGRIP1L Gene Mutations Identified by Whole Exome Sequencing in a Patient With Multiple Primary Tumors. Frontiers in genetics 1 33597970
2021 Homozygosity for a novel missense variant of RPGRIP1L causing Joubert syndrome with renal defects in a family of Chinese descent. Clinical nephrology 1 34308837
2025 Identification of RPGRIP1L as an instability-maintaining gene to drive tumor growth and PD-L1 expression via Hedgehog signaling in breast cancer. BMC cancer 0 41469586

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