Affinage

OFD1

Centriole and centriolar satellite protein OFD1 · UniProt O75665

Length
1012 aa
Mass
116.7 kDa
Annotated
2026-06-10
72 papers in source corpus 22 papers cited in narrative 22 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

OFD1 is a centrosomal and basal-body scaffold protein required for centriole length control, distal appendage formation, and primary ciliogenesis (PMID:15466260, PMID:20230748). At the distal centriole it controls distal-region elongation and microtubule stability, recruits IFT88, and is essential for distal appendage assembly; disease-associated alleles produce excessive or decreased centriole elongation, all coupled to diminished ciliogenesis (PMID:20230748). OFD1 functions as part of a hierarchical distal-centriole module (with CEP90 and FOPNL) that is recruited early during centriole duplication and in turn recruits the distal appendage proteins CEP83, CEP89, and CEP164, enabling basal body docking (PMID:36070319). Its abundance at distinct compartments is set by two degradation routes: a satellite pool is cleared by selective autophagy to permit cilium formation, such that autophagy-deficient cells accumulate OFD1 and fail to ciliate (PMID:24089205), and a centrosomal pool is degraded downstream of GPCR-cAMP signaling, where PKA phosphorylates OFD1 at Ser735 to trigger praja2-ubiquitin-proteasome proteolysis required for ciliogenesis (PMID:33934390). OFD1 also acts as a selective autophagy receptor for ATG13, binding Atg8/LC3/GABARAP proteins to limit autophagosome biogenesis, and excess autophagy in OFD1-mutant settings contributes to polycystic kidney disease that is ameliorated by autophagy inhibition (PMID:33368531). Loss of Ofd1 drives renal cystic disease through mTOR pathway dysregulation, reversible by rapamycin (PMID:20444807). Beyond the cilium, OFD1 has nuclear and cytosolic functions: it associates with the TIP60 histone acetyltransferase complex and is required for histone acetylation, chromatin dynamics, and homologous recombination repair of double-strand breaks (PMID:17761535, PMID:27798113), and it sequesters E2F4 in the cytosol to block DREAM complex assembly at the BRCA1 promoter, sustaining BRCA1 expression and HRR (PMID:40764600). It additionally cooperates with the centrosomal translation machinery to control localized mRNA translation (PMID:28450740).

Mechanistic history

Synthesis pass · year-by-year structured walk · 21 steps
  1. 2004 Medium

    Established OFD1 as a constitutive centrosomal component and identified which domains target it there, framing it as a structural scaffold rather than a transient visitor.

    Evidence GFP-OFD1 deletion constructs and immunofluorescence in kidney epithelial lines and human metanephroi

    PMID:15466260

    Open questions at the time
    • Did not define a molecular activity for OFD1
    • No partners identified at this stage
  2. 2007 Medium

    Revealed a nuclear pool of OFD1 and its physical association with chromatin-modifying machinery, the first hint of a function beyond the centrosome.

    Evidence Co-immunoprecipitation and yeast two-hybrid identifying RuvBL1 and TIP60 complex subunits

    PMID:17761535

    Open questions at the time
    • Co-IP without reciprocal or endogenous validation
    • Functional consequence of TIP60 association not tested here
  3. 2008 Medium

    Placed OFD1 in ciliary signaling physiology by linking it to non-canonical Wnt/PCP-dependent cilia and left-right patterning.

    Evidence Morpholino knockdown and genetic epistasis with Wnt/PCP mutants in zebrafish

    PMID:18971206

    Open questions at the time
    • Morpholino-based; off-target effects not excluded
    • Molecular link between OFD1 and PCP components undefined
  4. 2009 Medium

    Connected OFD1 genotype to a ciliary interaction and localization phenotype, showing dominant versus recessive mutations differ in disrupting lebercilin binding and pericentriolar targeting.

    Evidence Yeast two-hybrid, co-IP, and immunofluorescence of disease alleles in RPE1 cells

    PMID:19800048

    Open questions at the time
    • Functional role of OFD1-lebercilin complex in cilia not established
    • Structural basis of binding unknown
  5. 2010 High

    Defined the core molecular function of OFD1 as a distal-centriole protein controlling centriole length and distal appendage formation, the mechanistic anchor of its ciliogenesis role.

    Evidence Conditional knockout ES cells, electron microscopy, and disease-allele knock-in

    PMID:20230748

    Open questions at the time
    • Mechanism of microtubule length control not resolved at molecular detail
    • How distal appendage recruitment is achieved not yet mapped
  6. 2010 High

    Linked OFD1 loss to renal cystic disease through mTOR dysregulation and demonstrated pharmacological reversibility, establishing a druggable downstream pathway.

    Evidence Kidney-specific conditional knockout mouse with rapamycin rescue and western blot pathway analysis

    PMID:20444807

    Open questions at the time
    • Direct molecular link between OFD1 and mTOR activation not defined
    • Whether mTOR effect is cilia-dependent unresolved
  7. 2013 High

    Discovered that selective autophagy degrades the satellite pool of OFD1 to license ciliogenesis, recasting OFD1 turnover as a regulatory switch for cilium formation.

    Evidence Atg5/Atg3-null MEFs, siRNA rescue, and immunofluorescence across multiple cell types

    PMID:24089205

    Open questions at the time
    • Recognition mechanism marking satellite OFD1 for autophagy not defined here
    • Distinction between satellite and centrosomal pools not molecularly resolved
  8. 2014 Medium

    Positioned OFD1 within a polycystin-dependent ciliary signaling complex, linking it to ADPKD-relevant membrane receptor assemblies.

    Evidence Co-IP and immunofluorescence in renal epithelia and ADPKD patient cells

    PMID:25180832

    Open questions at the time
    • Direct versus indirect associations within the complex not separated
    • Functional output of the OFD1-polycystin complex not measured
  9. 2015 Medium

    Defined an interdependent OFD1/KIAA0753/FOR20 ternary module governing mutual recruitment to satellites and centrosomes, clarifying how OFD1 is positioned in the centriolar protein network.

    Evidence Co-IP and siRNA interdependence assays in RPE1 cells

    PMID:26643951

    Open questions at the time
    • Stoichiometry and direct contacts within the ternary complex unresolved
    • Order of assembly not established
  10. 2016 Medium

    Extended OFD1 function to photoreceptor cilia and implicated it in cell survival via control of reactive oxygen species and apoptosis.

    Evidence siRNA knockdown and overexpression in retinal cell lines with ROS and apoptosis assays

    PMID:27196396

    Open questions at the time
    • Mechanism linking OFD1 to ROS levels not defined
    • Whether survival effect is cilia-dependent unclear
  11. 2017 Medium

    Identified a centrosome-based translational control function, with OFD1 cooperating with Bicc1 and the PIC/eIF4F machinery to regulate specific mRNAs relevant to cystic disease.

    Evidence Co-IP with mass spectrometry and translation assays in kidney cells

    PMID:28450740

    Open questions at the time
    • Direct RNA-binding by OFD1 not demonstrated
    • Specific target mRNAs and selection mechanism incompletely defined
  12. 2017 Medium

    Established a nuclear genome-maintenance role, showing OFD1 supports TIP60 localization, histone acetylation, and homologous-recombination DSB repair, with loss phenocopying TIP60 deficiency.

    Evidence Chromatin fractionation, DSB repair assays, and checkpoint analysis in patient-derived cells

    PMID:27798113

    Open questions at the time
    • Whether OFD1 directly stabilizes TIP60 or acts indirectly unresolved
    • How a centrosomal protein partitions to chromatin not defined
  13. 2017 Medium

    Demonstrated evolutionary conservation of OFD1's basal-body docking and distal-assembly function and its transition-zone localization in a ciliate.

    Evidence RNAi knockdown, immunofluorescence, and electron microscopy in Paramecium

    PMID:28367320

    Open questions at the time
    • Mapping of conserved domains to specific functions not done
    • Relationship to mammalian distal appendage hierarchy not yet integrated
  14. 2020 High

    Showed OFD1 is itself a selective autophagy receptor for ATG13 that limits autophagosome biogenesis, and that excess autophagy underlies OFD1-related polycystic kidney disease rescuable by autophagy inhibition.

    Evidence Direct binding assays, conditional mouse model, autophagy flux, and patient cell analysis

    PMID:33368531

    Open questions at the time
    • How the autophagy-receptor role is spatially separated from being an autophagy substrate not fully resolved
    • Regulation of OFD1-ATG13 binding not mapped
  15. 2020 Medium

    Identified TRAPPIII subunits as competitive OFD1 partners controlling its association with PCM1, providing a switch between cilium assembly and disassembly states.

    Evidence Co-IP and siRNA with functional readouts in RPE1 cells

    PMID:32258032

    Open questions at the time
    • Structural basis of competitive binding unresolved
    • Physiological trigger that biases binding not defined
  16. 2020 Medium

    Connected OFD1 to cell-cycle progression and genome stability, with depletion causing centrosome accumulation, aneuploidy, and microtubule network defects.

    Evidence High-content microscopy and proliferation assays after siRNA in fibroblasts

    PMID:32473706

    Open questions at the time
    • Whether defects are secondary to centrosome amplification not separated
    • Direct cell-cycle effector role undefined
  17. 2021 High

    Defined a GPCR-cAMP-PKA signaling axis that controls centrosomal OFD1 levels, identifying Ser735 phosphorylation and praja2-mediated proteasomal degradation as required for ciliogenesis.

    Evidence Mass spectrometry, site-directed mutagenesis, ubiquitylation assays, and in vivo Medaka model

    PMID:33934390

    Open questions at the time
    • How this proteasomal route is coordinated with autophagic turnover unresolved
    • Upstream receptors that engage this axis not enumerated
  18. 2021 Medium

    Showed Myosin VI regulates OFD1 mobility and localization at centrioles, coupling motor activity to distal appendage protein recruitment and autophagic clearance of OFD1.

    Evidence Co-IP, FRAP, and siRNA in non-tumoral cell lines

    PMID:34957672

    Open questions at the time
    • Direct versus adaptor-mediated Myosin VI-OFD1 contact not resolved
    • Mechanism by which mobility controls satellite autophagy unclear
  19. 2022 High

    Resolved the hierarchical recruitment order of a distal-centriole module (DISCO: CEP90/FOPNL/OFD1) downstream of MNR and upstream of CEP83/CEP89/CEP164, mechanistically explaining OFD1's role in distal appendage assembly and basal body docking.

    Evidence Ultrastructure expansion microscopy and RNAi/siRNA in Paramecium and mammalian cells

    PMID:36070319

    Open questions at the time
    • Direct biochemical contacts within DISCO not mapped
    • How module assembly is timed during duplication not defined
  20. 2023 Medium

    Separated a cilia-independent OFD1 function in cell survival, mapping a paxillin-binding domain that supports ECM adhesion distinct from the ciliogenesis domain.

    Evidence Domain mapping, co-IP, adhesion and apoptosis assays with paxillin rescue in melanocytes

    PMID:38139355

    Open questions at the time
    • Whether OFD1-paxillin acts at adhesion sites or remotely not established
    • Mechanism by which OFD1 controls paxillin expression undefined
  21. 2025 High

    Defined a cytosolic OFD1-E2F4-DREAM-BRCA1 axis in which OFD1 sequesters E2F4 to prevent DREAM-mediated BRCA1 repression, sustaining HRR and creating synthetic lethality with PARP inhibitors.

    Evidence Co-IP, nuclear/cytoplasmic fractionation, ChIP, promoter reporters, and xenograft models

    PMID:40764600

    Open questions at the time
    • How OFD1's cytosolic sequestration pool is regulated unknown
    • Integration with OFD1's TIP60-dependent HRR role not reconciled

Open questions

Synthesis pass · forward-looking unresolved questions
  • How OFD1 partitions among its centrosomal, satellite, nuclear/chromatin, and cytosolic functional pools, and how the competing autophagic and proteasomal degradation routes are spatially and temporally coordinated, remains unresolved.
  • No unified model of pool partitioning
  • Structural basis of OFD1 scaffolding interactions largely undetermined
  • Relationship between ciliary and nuclear DSB-repair functions not mechanistically linked

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0008092 cytoskeletal protein binding 2 GO:0060090 molecular adaptor activity 2 GO:0140110 transcription regulator activity 1
Localization
GO:0005815 microtubule organizing center 4 GO:0005929 cilium 4 GO:0005634 nucleus 2 GO:0000228 nuclear chromosome 1 GO:0005829 cytosol 1
Pathway
R-HSA-162582 Signal Transduction 2 R-HSA-1852241 Organelle biogenesis and maintenance 2 R-HSA-73894 DNA Repair 2 R-HSA-9612973 Autophagy 2 R-HSA-1640170 Cell Cycle 1
Partners
ATG13E2F4FOR20KIAA0753LCA5MYO6RUVBL1TRAPPC8
Complex memberships
DISCO complex (CEP90/FOPNL/OFD1)OFD1/KIAA0753/FOR20 ternary complexTBC1D31-praja2-PKA centrosomal complexTIP60 histone acetyltransferase complex

Evidence

Reading pass · 22 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2004 OFD1 protein is a core component of the human centrosome throughout the cell cycle; coiled-coil domains (at least two) are required for centrosomal targeting, while the N-terminal LisH domain is not required. During acquisition of epithelial polarity in kidney development, OFD1 localizes to the apical zone of nephron precursor cells and then to basal bodies at the origin of primary cilia. GFP-OFD1 deletion constructs, immunofluorescence, immunoprobing of human metanephroi and kidney epithelial lines Journal of the American Society of Nephrology Medium 15466260
2007 OFD1 localizes both to the primary cilium and to the nucleus. OFD1 self-associates via its coiled-coil-rich region. OFD1 interacts with RuvBL1 (an AAA+ ATPase) and co-immunoprecipitates with subunits of the human TIP60 histone acetyltransferase (HAT) multisubunit complex. Co-immunoprecipitation, yeast two-hybrid, immunofluorescence Molecular biology of the cell Medium 17761535
2008 Ofd1 morpholino knockdown in zebrafish causes convergent extension (CE) defects, shorter cilia with disrupted axonemes, and perturbed fluid flow in Kupffer's vesicle leading to laterality randomization. CE defects are enhanced by simultaneous loss of Slb/Wnt11 or Tri/Vangl2 (non-canonical Wnt/PCP pathway components), placing Ofd1 in the PCP pathway. Antisense morpholino knockdown in zebrafish, genetic epistasis with Wnt/PCP mutants, live imaging Human molecular genetics Medium 18971206
2009 OFD1 interacts with LCA5-encoded lebercilin (identified by yeast two-hybrid screen of a retinal cDNA library). X-linked recessive OFD1 mutations reduce but do not eliminate this interaction, while dominant OFD1 mutations completely abolish binding. Dominant mutations also cause loss of pericentriolar localization of OFD1, whereas recessive mutations do not affect localization. Yeast two-hybrid, co-immunoprecipitation, immunofluorescence in hTERT-RPE1 cells American journal of human genetics Medium 19800048
2010 Ofd1 is a component of the distal centriole that controls centriole length. In absence of Ofd1, distal regions of centrioles (but not procentrioles) elongate abnormally with destabilized microtubules and abnormal post-translational modifications. Ofd1 is required for centriole distal appendage formation and centriolar recruitment of the intraflagellar transport protein Ift88. Disease-associated OFD1 missense alleles cause different degrees of excessive or decreased centriole elongation, all associated with diminished ciliogenesis. Conditional knockout mouse ES cells, electron microscopy, immunofluorescence, disease allele knock-in Developmental cell High 20230748
2010 Kidney-specific inactivation of Ofd1 (using Ksp-Cre) leads to renal cystic disease with upregulation of the mTOR pathway in both dilated and non-dilated renal structures. Treatment with rapamycin (mTOR inhibitor) significantly reduces cyst number and size, demonstrating mTOR pathway dysregulation is causally linked to cyst development downstream of Ofd1 loss. Conditional knockout mouse model, immunofluorescence, western blotting, rapamycin treatment Human molecular genetics High 20444807
2012 Ofd1 plays a crucial role in forebrain dorso-ventral patterning and early corticogenesis. Early Ofd1 inactivation results in absence of ciliary axonemes despite the presence of mature, correctly oriented and docked basal bodies, placing Ofd1 function after basal body docking but before axoneme elaboration. Abnormal activation of Sonic hedgehog (Shh) signaling is observed in mutant brains. Conditional mouse knockout, ultrastructural electron microscopy, immunofluorescence, in vivo pathway analysis PloS one High 23300826
2013 OFD1 at centriolar satellites is rapidly degraded by autophagy upon serum starvation. In autophagy-deficient (Atg5 or Atg3 null) mouse embryonic fibroblasts, OFD1 accumulates at centriolar satellites, causing fewer and shorter primary cilia and defective recruitment of BBS4 to cilia. OFD1 partial knockdown fully rescues ciliogenesis defects in autophagy-deficient cells. OFD1 depletion at centriolar satellites promotes cilia formation even in normally non-ciliated MCF7 cancer cells. Autophagy-deficient mouse embryonic fibroblasts (Atg5/Atg3 KO), siRNA knockdown, immunofluorescence, rescue experiments Nature High 24089205
2014 OFD1 is assembled into a protein complex at the primary cilium containing EGFR, flotillin proteins, polycystin-1, and polycystin-2. In human ADPKD cells where mutant polycystin-1 fails to localize to cilia, OFD1, polycystin-2, EGFR, and flotillin-1 also lose ciliary localization, indicating polycystins are required for assembly of this OFD1-containing ciliary signaling complex. Co-immunoprecipitation, immunofluorescence in renal epithelia and ADPKD patient cells PloS one Medium 25180832
2015 OFD1 forms a ternary complex with KIAA0753/OFIP and FOR20 at pericentriolar satellites and centrosomes. Decreased expression of any component of this ternary complex causes defective recruitment of the other components onto centrosomes and satellites. The OFD1/SGBS2 disease-associated KIAA0753 mutant loses interaction with FOR20 and OFD1. Co-immunoprecipitation, immunofluorescence, siRNA knockdown in RPE1 cells Human molecular genetics Medium 26643951
2016 OFD1 localizes to the outer segments of rat retina photoreceptors. Knockdown of Ofd1 in retinal cell lines results in shorter and fewer cilia, and reduced cell viability. Ofd1 overexpression partially attenuates MNU-induced toxicity by reducing reactive oxygen species levels and mitigating apoptosis. Immunofluorescence, siRNA knockdown, overexpression in 661W and R28 cells, DCFH-DA ROS assay, FACS apoptosis analysis PloS one Medium 27196396
2017 OFD1 interacts with components of the Preinitiation complex of translation (PIC) and the eIF4F complex. OFD1 cooperates with the mRNA binding protein Bicc1 to modulate translation of specific mRNA targets at the centrosome, where PIC and eIF4F components also localize. Selected translational targets accumulate in two models of inherited renal cystic disease. Co-immunoprecipitation, mass spectrometry, immunofluorescence, translation assays in kidney cells Scientific reports Medium 28450740
2017 OFD1 localizes to chromatin. Reduced OFD1 expression causes mis-localization of TIP60 in patient-derived cell lines, reduced histone acetylation, altered chromatin dynamics in response to DNA double-strand breaks, and impaired DSB repair via homologous recombination repair (HRR). OFD1 loss also impairs the DSB-induced G2-M checkpoint, inducing a hypersensitive and prolonged arrest, phenocopying loss of TIP60. Chromatin fractionation, immunofluorescence, DSB repair assays, checkpoint analysis in OFD1 patient-derived cell lines Human molecular genetics Medium 27798113
2017 In Paramecium tetraurelia, OFD1 depletion impairs basal body docking and causes defective assembly of the basal body distal part. OFD1 is recruited early during basal body assembly and localizes at the transition zone at the level of microtubule doublets. The localizations of OFD1 and FOR20 at the basal body are interdependent. RNAi knockdown in Paramecium, immunofluorescence, electron microscopy Cilia Medium 28367320
2020 OFD1 acts as a bona fide selective autophagy receptor for ATG13 (a component of the ULK1 autophagy initiation complex) via direct interaction with the Atg8/LC3/GABARAP family of proteins. This constitutes a negative feedback mechanism limiting autophagosome biogenesis. OFD1-mutant patients display excessive autophagy, and genetic inhibition of autophagy in a conditional mouse model significantly ameliorates polycystic kidney disease. Co-immunoprecipitation, direct binding assays, conditional mouse model, autophagy flux assays, patient cell analysis The EMBO journal High 33368531
2020 OFD1 interacts with TRAPPC8 and TRAPPC12 (TRAPPIII-specific subunits). TRAPPC8 is required for association of OFD1 with pericentriolar material 1 (PCM1). The interaction between TRAPPC8 and OFD1 inhibits the interaction between OFD1 and TRAPPC12, suggesting competitive binding that differentially regulates cilium assembly and disassembly. Co-immunoprecipitation, siRNA knockdown, immunofluorescence in hTERT-RPE1 cells Frontiers in cell and developmental biology Medium 32258032
2020 OFD1 has a dynamic distribution during the cell cycle. Ofd1 depletion in fibroblasts causes centrosome accumulation, nuclear abnormalities, aneuploidy, and an abnormal microtubule network, resulting in impaired cell cycle progression. High-content microscopy, immunofluorescence, cell proliferation assays, siRNA knockdown Tissue & cell Medium 32473706
2021 TBC1D31 assembles a centrosomal complex including the E3 ubiquitin ligase praja2, PKA, and OFD1. Upon GPCR-cAMP stimulation, PKA phosphorylates OFD1 at Ser735, promoting OFD1 proteolysis via the praja2-ubiquitin-proteasome system. This phosphorylation-dependent proteolysis is required for ciliogenesis; a non-phosphorylatable OFD1 mutant dramatically impairs cilium morphology. Disruption of this axis impairs ciliogenesis in vivo in Medaka fish. Co-immunoprecipitation, mass spectrometry, site-directed mutagenesis, ubiquitylation assays, GPCR stimulation, in vivo Medaka model The EMBO journal High 33934390
2021 Myosin VI interacts with OFD1 and regulates its localization at centrioles. Myosin VI depletion causes aberrant OFD1 localization along centriolar walls (due to reduced OFD1 mobile fraction), impairs recruitment of the distal appendage protein Cep164, and causes severe ciliogenesis defects that are at least partially due to impaired autophagic removal of OFD1 from satellites. Co-immunoprecipitation, FRAP, immunofluorescence, siRNA knockdown in non-tumoural cell lines EMBO reports Medium 34957672
2022 CEP90, FOPNL, and OFD1 form a functional module (DISCO complex) that localizes at the distal end of centrioles/basal bodies. These proteins are recruited early during centriole duplication on the external surface of the procentriole. OFD1 (along with FOPNL and CEP90) requires MNR for its recruitment, and in turn recruits distal appendage proteins CEP83, CEP89, and CEP164. Functional loss of these proteins in both Paramecium and mammalian cells impairs distal appendage assembly and basal body docking. Ultrastructure expansion microscopy (U-ExM), RNAi in Paramecium, siRNA in mammalian cells, immunofluorescence PLoS biology High 36070319
2023 OFD1 amino acid residues 601-1012 interact with paxillin (a cell-ECM adhesion protein), while residues 1-601 are responsible for ciliogenesis. OFD1 knockdown, but not IFT88 or RPGRIP1L knockdown, reduces paxillin expression, inhibits melanocyte adhesion to the ECM, and induces melanocyte apoptosis, establishing a cilia-independent OFD1 function in cell survival via ECM adhesion. Co-immunoprecipitation, domain mapping, siRNA knockdown, cell adhesion assays, apoptosis assays, paxillin overexpression rescue International journal of molecular sciences Medium 38139355
2025 OFD1 interacts with E2F4 in the cytosol to prevent assembly of the transcriptional repressor DREAM complex at the BRCA1 promoter. OFD1 depletion promotes E2F4 nuclear translocation and DREAM complex formation, suppressing BRCA1 expression and impairing homologous recombination repair (HRR), conferring synthetic lethality with PARP inhibitors. Co-immunoprecipitation, nuclear/cytoplasmic fractionation, chromatin immunoprecipitation, BRCA1 promoter reporter assays, xenograft models Nature communications High 40764600

Source papers

Stage 0 corpus · 72 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2013 Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. Nature 341 24089205
2010 Ofd1, a human disease gene, regulates the length and distal structure of centrioles. Developmental cell 205 20230748
2009 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. American journal of human genetics 167 19800048
2012 Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Human molecular genetics 133 22619378
2004 OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. Journal of the American Society of Nephrology : JASN 125 15466260
2008 Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. Human molecular genetics 109 18971206
2008 Oxygen-regulated degradation of fission yeast SREBP by Ofd1, a prolyl hydroxylase family member. The EMBO journal 92 18418381
1997 The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Human molecular genetics 86 9215688
2003 OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. Journal of the American Society of Nephrology : JASN 74 12595504
2007 Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. Molecular biology of the cell 70 17761535
1998 Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics 53 9722947
2012 Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. European journal of human genetics : EJHG 47 22353940
2019 The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. Molecular genetics & genomic medicine 42 31373179
2010 Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. Human molecular genetics 42 20444807
2000 Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Investigative ophthalmology & visual science 42 10892847
2017 The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets. Scientific reports 40 28450740
2019 Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. Journal of medical genetics 39 31366608
2016 Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. Annals of clinical and translational neurology 39 27231705
2015 OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. Human molecular genetics 39 26643951
2012 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Human mutation 39 23033313
2009 Oxygen-dependent binding of Nro1 to the prolyl hydroxylase Ofd1 regulates SREBP degradation in yeast. The EMBO journal 37 19158663
2003 Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant. Genomics 36 12782125
2021 The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation. The EMBO journal 33 33934390
2020 Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy. The EMBO journal 32 33368531
2022 OFD1: One gene, several disorders. American journal of medical genetics. Part C, Seminars in medical genetics 30 35112477
2012 Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development. PloS one 26 23300826
2012 Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. Clinical genetics 25 22548404
2017 Basal body positioning and anchoring in the multiciliated cell Paramecium tetraurelia: roles of OFD1 and VFL3. Cilia 24 28367320
2009 Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. Human mutation 21 19023858
2022 The evolutionary conserved proteins CEP90, FOPNL, and OFD1 recruit centriolar distal appendage proteins to initiate their assembly. PLoS biology 20 36070319
2016 OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models. PloS one 18 27196396
2017 Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. Human molecular genetics 17 27798113
2020 The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression. Tissue & cell 16 32473706
2016 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly. Human genome variation 15 27081566
2004 Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. Human genetics 15 15221448
2018 Clinical spectrum of male patients with OFD1 mutations. Journal of human genetics 14 30401917
2014 OFD1 and flotillins are integral components of a ciliary signaling protein complex organized by polycystins in renal epithelia and odontoblasts. PloS one 14 25180832
2019 A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. American journal of medical genetics. Part A 12 30895720
2021 Myosin VI regulates ciliogenesis by promoting the turnover of the centrosomal/satellite protein OFD1. EMBO reports 11 34957672
2022 Proteome balance in ciliopathies: the OFD1 protein example. Trends in molecular medicine 10 36494254
2012 Regulation of SREBP during hypoxia requires Ofd1-mediated control of both DNA binding and degradation. Molecular biology of the cell 10 22833559
2021 The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle. Cell stress 9 33681704
2020 Distinct Roles of TRAPPC8 and TRAPPC12 in Ciliogenesis via Their Interactions With OFD1. Frontiers in cell and developmental biology 9 32258032
2020 A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation. Molecular genetics and genomics : MGG 9 32944789
2018 Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. BioMed research international 9 30581852
2017 Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation. Case reports in ophthalmological medicine 8 28191358
2017 Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review. Clinical dysmorphology 8 28505061
2011 Regional selection acting on the OFD1 gene family. PloS one 8 22022562
2022 Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia. Pharmacogenomics and personalized medicine 7 35847568
2020 The Relationship Between Human Papillomavirus, OFD1 and Primary Ciliogenesis in the Progression of Oropharyngeal Cancer: A Retrospective Cohort Study. Pharmacogenomics and personalized medicine 6 33244255
2011 A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1. Oral diseases 6 21729220
2019 An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns. Internal medicine (Tokyo, Japan) 5 31243241
2016 A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report. Iranian journal of public health 5 27957444
2021 The role of OFD1 in selective autophagy. Molecular & cellular oncology 4 34027042
2017 [Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation]. Zhonghua er ke za zhi = Chinese journal of pediatrics 4 28173652
2023 A novel non-sense variant in the OFD1 gene caused Joubert syndrome. Frontiers in genetics 3 36704348
2023 Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome. Genes 3 36833254
2023 IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1. Cell & bioscience 3 37898820
2020 OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China. World journal of clinical cases 3 32047782
2024 Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1. Case reports in genetics 2 39156004
2024 Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases. Genes 2 39766900
2022 Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review. European journal of medical genetics 2 35398350
2025 A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa. Pharmacogenomics and personalized medicine 1 39925483
2025 Conservation of OFD1 Protein Motifs: Implications for Discovery of Novel Interactors and the OFD1 Function. International journal of molecular sciences 1 39940934
2023 Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin. International journal of molecular sciences 1 38139355
2022 [Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 35773765
2021 A Case of Primary Ciliary Dyskinesia Caused by a Mutation in OFD1, Which Was Diagnosed Owing to Clostridium difficile Infection. Pediatric reports 1 34068458
2025 [Analysis of OFD1 gene variant in a child with Oral-facial-digital syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 40763968
2025 OFD1 inhibition induces BRCAness to create a therapeutic vulnerability to PARP inhibition in pancreatic cancer. Nature communications 0 40764600
2025 CCHCR1 links P-body proteins to the centrosome and is required for ciliogenesis through interacting with OFD1 and PCM1. Cellular & molecular biology letters 0 40883668
2025 Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease. Case reports in nephrology and dialysis 0 41064626
2020 Indian child with novel variant in OFD1 gene. American journal of medical genetics. Part A 0 32677760

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