Affinage

OFD1

Centriole and centriolar satellite protein OFD1 · UniProt O75665

Length
1012 aa
Mass
116.7 kDa
Annotated
2026-04-29
72 papers in source corpus 21 papers cited in narrative 21 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

OFD1 is a centrosomal and basal body scaffold protein that organizes centriole distal structures, regulates ciliogenesis, and participates in genome maintenance through chromatin-associated functions. At centrioles, OFD1 forms the evolutionarily conserved DISCO complex with CEP90 and FOPNL, controlling distal centriole length, microtubule stability, distal appendage assembly (Cep164 recruitment), and axoneme elaboration downstream of basal body docking (PMID:20230748, PMID:36070319, PMID:23300826). The centriolar satellite pool of OFD1 is removed by autophagy upon serum starvation to permit ciliogenesis, and OFD1 itself functions as a selective autophagy receptor that targets ATG13 for degradation, providing negative feedback on autophagosome biogenesis; additionally, PKA-dependent phosphorylation at Ser735 triggers praja2-mediated proteasomal degradation of OFD1, a pathway also required for cilium formation (PMID:24089205, PMID:33368531, PMID:33934390). Beyond cilia, OFD1 localizes to chromatin where it supports TIP60-dependent histone acetylation and homologous recombination repair of DNA double-strand breaks, and it sequesters E2F4 in the cytosol to prevent DREAM complex–mediated repression of BRCA1 transcription, thereby maintaining HR competence (PMID:27798113, PMID:40764600).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2004 High

    Establishing that OFD1 is a constitutive centrosomal protein resolved its subcellular site of action and showed that coiled-coil domains, not the LisH domain, mediate centrosomal targeting.

    Evidence GFP-deletion constructs, immunofluorescence, and biochemical fractionation in cell lines

    PMID:15466260

    Open questions at the time
    • Centrosomal function of OFD1 not yet defined
    • Mechanism of coiled-coil-mediated targeting unresolved
  2. 2007 High

    Identifying OFD1 self-association and its interaction with RuvBl1 within the TIP60 HAT complex revealed a previously unsuspected nuclear/chromatin function beyond centrosome biology.

    Evidence Co-immunoprecipitation, yeast two-hybrid, subcellular fractionation

    PMID:17761535

    Open questions at the time
    • Functional consequence of TIP60 complex association unknown
    • Relative importance of nuclear vs. centrosomal OFD1 pools unclear
  3. 2010 High

    Mouse knockout and ultrastructural analysis established that OFD1 controls distal centriole length, microtubule stability, and distal appendage formation, placing it as a structural organizer of the distal centriole required for IFT88 recruitment and ciliogenesis.

    Evidence Ofd1 knockout mice, electron microscopy, patient missense allele knock-in in ES cells

    PMID:20230748

    Open questions at the time
    • Whether OFD1 acts as a scaffold or an enzymatic regulator at centrioles unknown
    • Protein partners at the distal centriole not identified
  4. 2010 High

    Kidney-specific Ofd1 knockout revealed that loss of OFD1 causes renal cystic disease with mTOR upregulation, and rapamycin rescue demonstrated pathway-level disease mechanism.

    Evidence Conditional Ksp-Cre knockout mouse, rapamycin treatment

    PMID:20444807

    Open questions at the time
    • How OFD1 loss activates mTOR not determined
    • Whether cilia loss or a cilia-independent function drives mTOR activation unclear
  5. 2013 High

    The discovery that autophagy selectively degrades the centriolar satellite pool of OFD1 to promote ciliogenesis established autophagy as a direct regulator of cilium biogenesis and identified OFD1 as the key substrate linking these two processes.

    Evidence Atg5/Atg3-null MEFs, serum starvation, OFD1 knockdown rescue of ciliogenesis

    PMID:24089205

    Open questions at the time
    • Autophagy receptor mediating OFD1 satellite clearance not identified
    • Whether centriolar and satellite OFD1 pools are functionally distinct unknown
  6. 2016 High

    Conditional brain knockout demonstrated OFD1 is required for axoneme elaboration after basal body docking and maturation, precisely positioning its function in the ciliogenesis pathway and linking it to Shh-dependent forebrain patterning.

    Evidence Conditional mouse knockout, electron microscopy, Shh reporter

    PMID:23300826

    Open questions at the time
    • Molecular mechanism by which OFD1 enables axoneme extension unknown
    • Whether OFD1 directly participates in transition zone assembly unclear
  7. 2017 High

    Demonstrating that OFD1 localizes to chromatin and is required for TIP60-dependent histone acetylation, homologous recombination repair, and the G2-M DNA damage checkpoint established a cilia-independent genome maintenance role for OFD1.

    Evidence Patient-derived cells, siRNA, ChIP, HRR reporter, cell cycle analysis

    PMID:27798113

    Open questions at the time
    • How OFD1 recruits or stabilizes TIP60 on chromatin not defined
    • Whether DNA repair defects contribute to OFD1-associated disease phenotypes unknown
  8. 2017 Medium

    Interaction of OFD1 with translation initiation complexes (PIC/eIF4F) at the centrosome suggested a role in local mRNA translation control, expanding OFD1 function beyond structural scaffolding.

    Evidence Co-IP, mass spectrometry, polysome profiling

    PMID:28450740

    Open questions at the time
    • Specific mRNA targets regulated by OFD1-dependent translation not comprehensively identified
    • In vivo relevance of centrosomal translation regulation not demonstrated
  9. 2020 High

    Identification of OFD1 as a selective autophagy receptor for ATG13 via LC3/GABARAP interaction revealed a negative feedback loop limiting autophagosome biogenesis, and genetic inhibition of autophagy ameliorated Ofd1-associated polycystic kidney disease in mice.

    Evidence In vitro binding, LIR mutagenesis, conditional mouse model, autophagy flux assays

    PMID:33368531

    Open questions at the time
    • Structural basis of OFD1-ATG13 recognition unknown
    • Whether OFD1 autophagy receptor function operates in all tissues or is context-specific
  10. 2021 High

    Discovery that PKA phosphorylates OFD1 at Ser735 downstream of GPCR-cAMP signaling, promoting praja2-mediated proteasomal degradation required for ciliogenesis, established a UPS-dependent regulatory axis complementary to autophagic control of OFD1 levels.

    Evidence In vitro kinase assay, S735A mutagenesis, ubiquitylation assay, Medaka fish model

    PMID:33934390

    Open questions at the time
    • How UPS and autophagy pathways are coordinated for OFD1 turnover unclear
    • Whether additional phosphorylation sites regulate OFD1 stability unknown
  11. 2022 High

    Identification of the DISCO complex (CEP90-FOPNL-OFD1) by expansion microscopy resolved OFD1's structural position at the distal centriole and placed it downstream of MNR in distal appendage assembly hierarchy.

    Evidence U-ExM, siRNA, functional rescue in mammalian cells and Paramecium

    PMID:36070319

    Open questions at the time
    • Atomic-resolution structure of the DISCO complex not available
    • How MNR recruits OFD1 molecularly not defined
  12. 2025 High

    Demonstrating that OFD1 sequesters E2F4 in the cytosol to prevent DREAM complex assembly at the BRCA1 promoter revealed a mechanism connecting OFD1 loss to HR deficiency (BRCAness) and PARP inhibitor sensitivity, linking ciliopathy biology to cancer therapeutic vulnerability.

    Evidence Co-IP, ChIP, nuclear fractionation, HRR reporter, xenograft models

    PMID:40764600

    Open questions at the time
    • Whether E2F4 sequestration is relevant in OFD1-mutant ciliopathy patients unknown
    • Full transcriptional program controlled by OFD1-E2F4 axis not mapped

Open questions

Synthesis pass · forward-looking unresolved questions
  • A unified structural model explaining how OFD1 integrates its centrosomal scaffold, autophagy receptor, chromatin-associated, and cytosolic sequestration functions—and how disease mutations differentially disrupt each—remains to be established.
  • No high-resolution structure of full-length OFD1 or its complexes
  • Genotype-phenotype correlations across OFD1 functional domains not systematically resolved
  • Relative contributions of cilia-dependent versus cilia-independent functions to disease unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3 GO:0038024 cargo receptor activity 1 GO:0140313 molecular sequestering activity 1
Localization
GO:0005815 microtubule organizing center 5 GO:0005929 cilium 3 GO:0005634 nucleus 2 GO:0005694 chromosome 1 GO:0005829 cytosol 1
Pathway
R-HSA-1852241 Organelle biogenesis and maintenance 5 R-HSA-162582 Signal Transduction 2 R-HSA-4839726 Chromatin organization 2 R-HSA-73894 DNA Repair 2 R-HSA-9612973 Autophagy 2 R-HSA-1640170 Cell Cycle 1
Partners
CEP90E2F4FOPNLFOR20KIAA0753MYO6PRAJA2RUVBL1
Complex memberships
DISCO complex (CEP90-FOPNL-OFD1)OFD1-KIAA0753/OFIP-FOR20 satellite complexTIP60 HAT complex

Evidence

Reading pass · 21 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, requiring coiled-coil domains (not the N-terminal LisH domain) for centrosomal targeting. During epithelial differentiation, OFD1 localizes to basal bodies at the origin of primary cilia. GFP-OFD1 deletion constructs, immunofluorescence, biochemical fractionation, overexpression in cell lines Journal of the American Society of Nephrology High 15466260
2007 OFD1 localizes to both the primary cilium and the nucleus, can self-associate via its coiled-coil-rich region, and interacts with RuvBl1 (an AAA+ ATPase). OFD1 together with RuvBl1 co-immunoprecipitates with subunits of the TIP60 histone acetyltransferase (HAT) multisubunit complex. Co-immunoprecipitation, immunofluorescence, yeast two-hybrid, subcellular fractionation Molecular biology of the cell High 17761535
2009 OFD1 interacts with LCA5-encoded lebercilin (identified by yeast two-hybrid screen of retinal cDNA library). X-linked dominant OFD1 mutations abolish lebercilin binding and cause loss of pericentriolar localization, while X-linked recessive mutations reduce but do not eliminate interaction and do not affect pericentriolar localization. Yeast two-hybrid, co-immunoprecipitation, immunofluorescence in hTERT-RPE1 cells American journal of human genetics High 19800048
2010 Ofd1 is a component of the distal centriole that controls centriole length by stabilizing distal centriolar microtubules with normal posttranslational modifications, and is required for centriole distal appendage formation and centriolar recruitment of the intraflagellar transport protein Ift88. Mouse knockout, electron microscopy, immunofluorescence, missense allele knock-in from human OFD1 patients in embryonic stem cells Developmental cell High 20230748
2010 Kidney-specific inactivation of Ofd1 leads to renal cystic disease with upregulation of the mTOR pathway. Primary cilia initially form and then disappear after cyst development, and rapamycin treatment significantly reduces cyst number and size. Conditional Ksp-Cre knockout mouse, immunofluorescence, western blotting, rapamycin pharmacological treatment Human molecular genetics High 20444807
2013 The population of OFD1 at centriolar satellites is rapidly degraded by autophagy upon serum starvation, promoting primary cilium biogenesis. In autophagy-deficient cells (Atg5 or Atg3 null), OFD1 accumulates at centriolar satellites, resulting in fewer and shorter primary cilia and defective BBS4 recruitment to cilia. OFD1 partial knockdown rescues ciliogenesis defects in autophagy-deficient cells. Autophagy-deficient mouse embryonic fibroblasts (Atg5/Atg3 null), serum starvation, siRNA knockdown, immunofluorescence, Western blotting Nature High 24089205
2014 OFD1 is assembled into a protein complex at the primary cilium that includes EGFR, flotillin proteins, polycystin-1, and polycystin-2. In ADPKD cells where mutant polycystin-1 fails to localize to cilia, OFD1, polycystin-2, EGFR, and flotillin-1 all concomitantly lose ciliary localization, indicating polycystins are required for assembly of this OFD1-containing ciliary signaling complex. Co-immunoprecipitation, immunofluorescence in renal epithelial cells 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 complex causes defective recruitment of the others to centrosomes and satellites. Co-immunoprecipitation, immunofluorescence, siRNA knockdown in RPE1 cells Human molecular genetics Medium 26643951
2016 Ofd1 plays a crucial role in forebrain development and dorso-ventral patterning through control of Sonic hedgehog (Shh) signaling. Early Ofd1 inactivation results in absence of ciliary axonemes despite presence of mature, correctly oriented and docked basal bodies, indicating Ofd1 functions after basal body docking and before axoneme elaboration. Conditional mouse knockout, immunofluorescence, ultrastructural electron microscopy, Shh pathway reporter analysis PloS one High 23300826
2017 OFD1 interacts with components of the Preinitiation complex of translation (PIC) and eIF4F complex, and cooperates with the mRNA binding protein Bicc1 to modulate translation of specific mRNA targets at the centrosome. PIC and eIF4F components also localize to the centrosome in mammalian cells. Co-immunoprecipitation, mass spectrometry, immunofluorescence, polysome profiling, translation assays Scientific reports Medium 28450740
2017 OFD1 can localize to chromatin, and its reduced expression causes mis-localization of TIP60. Loss of OFD1 impairs DNA double-strand break repair via homologous recombination (HRR) and adversely impacts the DSB-induced G2-M checkpoint, phenocopying TIP60 loss. OFD1-deficient cells show reduced histone acetylation. Patient-derived cell lines, siRNA knockdown, chromatin immunoprecipitation, DSB repair assays (HRR reporter), immunofluorescence, cell cycle analysis Human molecular genetics High 27798113
2017 In Paramecium, OFD1 is recruited early during basal body assembly, localizes at the transition zone between axoneme and membrane at the level of microtubule doublets, and its depletion impairs distal basal body assembly and docking. The localizations of OFD1 and FOR20 at the basal body are interdependent. RNAi depletion in Paramecium tetraurelia, 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 OFD1-mediated selective degradation of ATG13 constitutes a negative feedback mechanism limiting autophagosome biogenesis. Genetic inhibition of autophagy in an Ofd1 mouse model significantly ameliorates polycystic kidney disease. Co-immunoprecipitation, in vitro binding assays, LC3-interaction domain mutagenesis, conditional mouse model, autophagy flux assays, patient cell analysis The EMBO journal High 33368531
2020 OFD1 displays a dynamic distribution during the cell cycle, and Ofd1-depleted fibroblasts exhibit impaired cell cycle progression, centrosome accumulation, nuclear abnormalities, aneuploidy, and an abnormal microtubule network, indicating OFD1 contributes to MTOC function and cell cycle control. Immunofluorescence, high-content microscopy, siRNA knockdown, cell proliferation assays Tissue & cell Medium 32473706
2020 TRAPPC8 and TRAPPC12 (TRAPPIII-specific subunits) interact with OFD1. TRAPPC8 is necessary for association of OFD1 with PCM1 at centriolar satellites. The TRAPPC8-OFD1 interaction inhibits the OFD1-TRAPPC12 interaction, and TRAPPC12 is required for cilia disassembly. Co-immunoprecipitation, siRNA knockdown, immunofluorescence in hTERT-RPE1 cells Frontiers in cell and developmental biology Medium 32258032
2021 TBC1D31 assembles a centrosomal complex containing praja2 (E3 ubiquitin ligase), PKA, and OFD1. Upon GPCR-cAMP stimulation, PKA phosphorylates OFD1 at Ser735, promoting OFD1 proteolysis through the praja2-ubiquitin-proteasome system (UPS). This pathway is required for ciliogenesis; a non-phosphorylatable OFD1-S735A mutant dramatically impairs cilium morphology. Co-immunoprecipitation, in vitro kinase assay, site-directed mutagenesis (S735A), ubiquitylation assay, immunofluorescence, in vivo Medaka fish model The EMBO journal High 33934390
2021 Myosin VI interacts with OFD1 and regulates OFD1 localization at centrioles; myosin VI depletion causes aberrant OFD1 distribution along centriolar walls due to a reduction in the OFD1 mobile fraction, impairs Cep164 (distal appendage protein) recruitment, and causes severe ciliogenesis defects partly through impairment of autophagic removal of OFD1 from satellites. Co-immunoprecipitation, FRAP, immunofluorescence, siRNA knockdown, live imaging EMBO reports High 34957672
2022 CEP90, FOPNL, and OFD1 form an evolutionarily conserved functional module (DISCO complex) that localizes at the distal end of centrioles/basal bodies. OFD1 is recruited to procentrioles early during centriole duplication and is required for distal appendage assembly and basal body docking, downstream of MNR. Ultrastructure expansion microscopy (U-ExM), immunofluorescence, siRNA knockdown, functional rescue in mammalian cells and Paramecium PLoS biology High 36070319
2023 OFD1 (residues 601-1012) interacts with paxillin independently of its ciliogenic function (residues 1-601). OFD1 knockdown reduces paxillin expression, inhibits melanocyte adhesion to ECM, and induces melanocyte apoptosis; this phenotype is not reproduced by IFT88 or RPGRIP1L knockdown and is rescued by paxillin overexpression. siRNA knockdown, domain-mapping co-immunoprecipitation, overexpression rescue, adhesion assays, apoptosis assays 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 causing homologous recombination repair deficiency (BRCAness), conferring sensitivity to PARP inhibitors. Co-immunoprecipitation, chromatin immunoprecipitation, nuclear fractionation, HRR reporter assays, xenograft mouse models Nature communications High 40764600
2025 CCHCR1 interacts with OFD1 via its C-terminal coiled-coil domain, and the centrosomal localization of CCHCR1 is determined by OFD1 and PCM1. CCHCR1 also recruits P-body proteins (via EDC4) to the centrosome and is required for ciliogenesis. BioID mass spectrometry, co-immunoprecipitation, GST pull-down, AB-FRET, siRNA knockdown, CRISPR-Cas9 knockout, immunofluorescence Cellular & molecular biology letters High 40883668

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 339 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
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
2020 OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China. World journal of clinical cases 2 32047782
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