Details for: OFD1

Gene ID: 8481

Symbol: OFD1

Ensembl ID: ENSG00000046651

Description: OFD1 centriole and centriolar satellite protein

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.37
    Marker Score: 24029
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.84
    Marker Score: 2716
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 1.72
    Marker Score: 4814
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.66
    Marker Score: 1328
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.66
    Marker Score: 14408
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.65
    Marker Score: 576
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.57
    Marker Score: 4260
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.56
    Marker Score: 2246
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.55
    Marker Score: 1562
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.55
    Marker Score: 667
  • Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
    Fold Change: 1.53
    Marker Score: 497
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 1.52
    Marker Score: 1493
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 1.52
    Marker Score: 1788
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 1.5
    Marker Score: 1138
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 1.48
    Marker Score: 1324
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.48
    Marker Score: 14629
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 1.44
    Marker Score: 1090
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 1.42
    Marker Score: 1338
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.39
    Marker Score: 5647
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 1.38
    Marker Score: 698
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.38
    Marker Score: 2504
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 1.37
    Marker Score: 4338
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.37
    Marker Score: 29207
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.36
    Marker Score: 326
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.36
    Marker Score: 18334
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.36
    Marker Score: 2592
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 1.36
    Marker Score: 820
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.36
    Marker Score: 396
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.35
    Marker Score: 428
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.35
    Marker Score: 1416.5
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.35
    Marker Score: 2384
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.34
    Marker Score: 12609
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.34
    Marker Score: 11513
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 1.33
    Marker Score: 1284
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.33
    Marker Score: 330
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.33
    Marker Score: 12623
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 1.32
    Marker Score: 3216
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.32
    Marker Score: 1418
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.31
    Marker Score: 2992
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.3
    Marker Score: 1681
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 1.3
    Marker Score: 285
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 1.3
    Marker Score: 1095
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.3
    Marker Score: 998
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.28
    Marker Score: 5367.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.28
    Marker Score: 47309
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.28
    Marker Score: 889
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.28
    Marker Score: 368
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.28
    Marker Score: 2225
  • Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
    Fold Change: 1.28
    Marker Score: 420
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.27
    Marker Score: 518
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.27
    Marker Score: 314
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 1.26
    Marker Score: 436
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.26
    Marker Score: 25029
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.25
    Marker Score: 3719
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.24
    Marker Score: 4280
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.24
    Marker Score: 76496
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.24
    Marker Score: 655
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.24
    Marker Score: 1370
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 1.24
    Marker Score: 277
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.24
    Marker Score: 18491
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.24
    Marker Score: 1284
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 1.23
    Marker Score: 437
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.23
    Marker Score: 356
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 1.23
    Marker Score: 382
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 1.22
    Marker Score: 1000
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 1.22
    Marker Score: 283
  • Cell Name: tendon cell (CL0000388)
    Fold Change: 1.21
    Marker Score: 298
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.21
    Marker Score: 493
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 1.21
    Marker Score: 313
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 1.2
    Marker Score: 316
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 1.2
    Marker Score: 1306
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 1.2
    Marker Score: 315
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.19
    Marker Score: 811
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.19
    Marker Score: 19114
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.19
    Marker Score: 695
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 1.19
    Marker Score: 412
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.18
    Marker Score: 44898
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 1.18
    Marker Score: 576
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.18
    Marker Score: 3253
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 1.18
    Marker Score: 3431
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.17
    Marker Score: 476
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 1.17
    Marker Score: 62056
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.17
    Marker Score: 683
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.17
    Marker Score: 338
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 1.17
    Marker Score: 288
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.17
    Marker Score: 1037
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.17
    Marker Score: 643
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.16
    Marker Score: 11979
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.16
    Marker Score: 2832
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.16
    Marker Score: 8878
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.16
    Marker Score: 774
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 1.16
    Marker Score: 340
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.15
    Marker Score: 602.5
  • Cell Name: memory regulatory T cell (CL0002678)
    Fold Change: 1.15
    Marker Score: 401
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 1.14
    Marker Score: 302.5
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 1.14
    Marker Score: 1147
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.14
    Marker Score: 1211
  • Cell Name: centroblast (CL0009112)
    Fold Change: 1.14
    Marker Score: 562
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.14
    Marker Score: 4721
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.14
    Marker Score: 4401

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Other Information

**Key Characteristics:** The OFD1 gene encodes a protein that localizes to centriolar satellites, which are microtubule-based structures that surround the centrioles. Centriolar satellites are thought to play a role in the regulation of centriole biogenesis, maintenance, and separation. The OFD1 protein has been shown to interact with other proteins, including alpha-tubulin, gamma-tubulin, and aurora kinase A (Aurka), which are essential for centriole biogenesis and cell cycle progression. **Pathways and Functions:** The OFD1 gene is involved in several key cellular pathways, including: 1. **Centriole biogenesis and maintenance:** OFD1 is required for the formation and maintenance of centrioles and centrosomes. Centrioles are essential for the formation of cilia, flagella, and the spindle fibers that separate chromosomes during mitosis. 2. **Cell cycle regulation:** OFD1 interacts with Aurora kinase A (Aurka) and other proteins to regulate the cell cycle, particularly during the G2/M transition. 3. **Ciliary basal body formation:** OFD1 plays a critical role in the formation of ciliary basal bodies, which are essential for the assembly and maintenance of cilia. 4. **Left-right asymmetry:** OFD1 has been implicated in the establishment of left-right asymmetry in the embryo, which is critical for the development of the cardiovascular system and other organs. **Clinical Significance:** Mutations in the OFD1 gene have been associated with Oral-Facial-Digital Syndrome 1, a rare genetic disorder characterized by abnormalities in the development of the oral, facial, and digital tissues. Other conditions, such as cerebral folate malabsorption and primary ciliary dyskinesia, have also been linked to OFD1 mutations. The OFD1 gene is also of interest in the study of cancer, as mutations in the gene have been associated with an increased risk of certain types of cancer, including breast and prostate cancer. In conclusion, the OFD1 gene is a critical component of centriolar satellites and plays a vital role in the formation and function of centrioles and centrosomes. Mutations in the OFD1 gene have significant implications for human health, particularly in the development of genetic disorders and an increased risk of certain types of cancer. Further research is needed to fully elucidate the functions of the OFD1 gene and its role in human disease.

Genular Protein ID: 257659886

Symbol: OFD1_HUMAN

Name: Oral-facial-digital syndrome 1 protein

UniProtKB Accession Codes:

O75665 B9ZVU5 O75666 Q4VAK4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 EMBL 4 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 17 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 8 RefSeq 2 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9722947

Title: Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.

PubMed ID: 9722947

DOI: 10.1006/geno.1998.5348

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 33934390

Title: The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation.

PubMed ID: 33934390

DOI: 10.15252/embj.2020106503

PubMed ID: 12595504

Title: OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.

PubMed ID: 12595504

DOI: 10.1097/01.asn.0000054497.48394.d2

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 16783569

Title: A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

PubMed ID: 16783569

DOI: 10.1007/s00439-006-0210-5

PubMed ID: 17761535

Title: Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.

PubMed ID: 17761535

DOI: 10.1091/mbc.e07-03-0198

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19800048

Title: OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

PubMed ID: 19800048

DOI: 10.1016/j.ajhg.2009.09.002

PubMed ID: 20230748

Title: Ofd1, a human disease gene, regulates the length and distal structure of centrioles.

PubMed ID: 20230748

DOI: 10.1016/j.devcel.2009.12.022

PubMed ID: 20835237

Title: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

PubMed ID: 20835237

DOI: 10.1038/ng.662

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22619378

Title: Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

PubMed ID: 22619378

DOI: 10.1093/hmg/dds194

PubMed ID: 24121310

Title: A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis.

PubMed ID: 24121310

DOI: 10.1038/emboj.2013.223

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24089205

Title: Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.

PubMed ID: 24089205

DOI: 10.1038/nature12606

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24997988

Title: The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

PubMed ID: 24997988

DOI: 10.1038/ng.3031

PubMed ID: 26643951

Title: 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.

PubMed ID: 26643951

DOI: 10.1093/hmg/ddv488

PubMed ID: 11179005

Title: Identification of the gene for oral-facial-digital type I syndrome.

PubMed ID: 11179005

DOI: 10.1086/318802

PubMed ID: 11950863

Title: Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

PubMed ID: 11950863

DOI: 10.1136/jmg.39.4.292

PubMed ID: 16397067

Title: Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

PubMed ID: 16397067

DOI: 10.1136/jmg.2004.027672

PubMed ID: 23033313

Title: Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability.

PubMed ID: 23033313

DOI: 10.1002/humu.22224

PubMed ID: 26477546

Title: Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

PubMed ID: 26477546

DOI: 10.1016/j.ajhg.2015.09.009

Sequence Information:

  • Length: 1012
  • Mass: 116671
  • Checksum: C2BF4376F89E6738
  • Sequence:
    • MMAQSNMFTV ADVLSQDELR KKLYQTFKDR GILDTLKTQL RNQLIHELMH PVLSGELQPR 
SISVEGSSLL IGASNSLVAD HLQRCGYEYS LSVFFPESGL AKEKVFTMQD LLQLIKINPT 
SSLYKSLVSG SDKENQKGFL MHFLKELAEY HQAKESCNME TQTSSTFNRD SLAEKLQLID 
DQFADAYPQR IKFESLEIKL NEYKREIEEQ LRAEMCQKLK FFKDTEIAKI KMEAKKKYEK 
ELTMFQNDFE KACQAKSEAL VLREKSTLER IHKHQEIETK EIYAQRQLLL KDMDLLRGRE 
AELKQRVEAF ELNQKLQEEK HKSITEALRR QEQNIKSFEE TYDRKLKNEL LKYQLELKDD 
YIIRTNRLIE DERKNKEKAV HLQEELIAIN SKKEELNQSV NRVKELELEL ESVKAQSLAI 
TKQNHMLNEK VKEMSDYSLL KEEKLELLAQ NKLLKQQLEE SRNENLRLLN RLAQPAPELA 
VFQKELRKAE KAIVVEHEEF ESCRQALHKQ LQDEIEHSAQ LKAQILGYKA SVKSLTTQVA 
DLKLQLKQTQ TALENEVYCN PKQSVIDRSV NGLINGNVVP CNGEISGDFL NNPFKQENVL 
ARMVASRITN YPTAWVEGSS PDSDLEFVAN TKARVKELQQ EAERLEKAFR SYHRRVIKNS 
AKSPLAAKSP PSLHLLEAFK NITSSSPERH IFGEDRVVSE QPQVGTLEER NDVVEALTGS 
AASRLRGGTS SRRLSSTPLP KAKRSLESEM YLEGLGRSHI ASPSPCPDRM PLPSPTESRH 
SLSIPPVSSP PEQKVGLYRR QTELQDKSEF SDVDKLAFKD NEEFESSFES AGNMPRQLEM 
GGLSPAGDMS HVDAAAAAVP LSYQHPSVDQ KQIEEQKEEE KIREQQVKER RQREERRQSN 
LQEVLERERR ELEKLYQERK MIEESLKIKI KKELEMENEL EMSNQEIKDK SAHSENPLEK 
YMKIIQQEQD QESADKSSKK MVQEGSLVDT LQSSDKVESL TGFSHEELDD SW

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.