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Symbol OFD1 contributors: mct - updated : 24-05-2015
HGNC name oral-facial-digital syndrome 1
HGNC id 2567
Corresponding disease
JBTS10 Joubert syndrome 10
OFD1 orofaciodigital syndrome type 1
RP23 retinitis pigmentosa 23
SGBS2 Simpson-Golabi-Behmel syndrome 2
Location Xp22.2      Physical location : 13.752.831 - 13.787.479
Synonym name
  • chromosome X open reading frame 5
  • protein 71-7A
  • Synonym symbol(s) DXS69E, 71-7AX, OFD, CXorf5, 71-7A, MGC117039, MGC117040, JBTS10
    TYPE functioning gene
    SPECIAL FEATURE escaping inactivation
    STRUCTURE 34.65 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC139952 Xp22.31 similar to LIM domain kinase 2 (LIMK-2) MSL3L1 Xp22.3 male-specific lethal 3-like 1 (Drosophila) KIAA0316 Xp22.2 male-specific lethal 3-like 1 (Drosophila) PRPS2 Xp22.31 phosphoribosyl pyrophosphate synthetase 2 MRPL35P4 Xq22.31 phosphoribosyl pyrophosphate synthetase 2 TLR7 Xp22.3 toll-like receptor 7 TLR8 Xp22.3 toll-like receptor 8 TMSB4X Xq21.3-q22 thymosin, beta 4, X chromosome FAM9C Xp22.32 family with sequence similarity 9, member C LOC92552 Xp22.31 similar to homologue of MJD, high homology to a genomic sequence in Xp22 LOC286478 Xp22.31 hypothetical LOC286478 LOC389839 X similar to glutathione peroxidase 1 EGFL6 Xp22.3 EGF-like-domain, multiple 6 MGC17403 Xp22.31 hypothetical protein MGC17403 RAB9A Xp22.2 RAB9A, member RAS oncogene family SEDL Xp22.31 spondyloepiphyseal dysplasia, late OFD1 Xp22.2-p22.3 oral-facial-digital syndrome 1 GPM6B Xp22.2 glycoprotein M6B FLJ20514 Xp22.31 hypothetical protein FLJ20514 LOC286480 Xp22.31 similar to ubiquitin-conjugating enzyme UbcM2 GLRA2 Xp22.13 glycine receptor, alpha 2 LOC392428 X similar to nucleophosmin 1; nucleolar phosphoprotein B23; numatrin; nucleophosmin/nucleoplasmin family, member 1 FLJ34064 Xp22.31 hypothetical protein FLJ34064 MGC26706 Xp22.31 hypothetical protein MGC26706 ASB9 Xp ankyrin repeat and SOCS box-containing 9 ASB11 Xp22.31 ankyrin repeat and SOCS box-containing 11 PIGA Xp22.1 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase CA5B Xp22.1 carbonic anhydrase VB, mitochondrial U2AF1L2 Xp22.1 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 3654 116 1011 - 2007 17761535
    - splicing 4278 - 367 not expressed in skeletal muscle and heart 1998 9722947
  • also called CXorf5.2
  • insertion 663bp leading to a frameshift
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidneynephron  highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
    physiological period embryo
    Text renal mesenchymal cells
  • a N-terminal LISH motif
  • a large number of coiled-coil alpha-helical domains
    interspecies homolog to murine Ofd1
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
  • pericentriolar localization, in the basal body in primary cilia
  • localizes both to the primary cilium and to the nucleus
  • not exclusively localized to the centrosome and basal body, but is present also in the nucleus
  • basic FUNCTION
  • may play a role in differentiation of metanephric precursor cell
  • may have a role beyond primary cilium organization and assembly and in left-right axis specification
  • playing roles not only in microtubule organization (centrosomal function) but also in mechanosensation of urine flow (a primary ciliary function)
  • able to self-associate and this interaction is mediated by its coiled-coil rich region
  • may be part of a multi-protein complex and could play different biological functions in the centrosome-primary cilium organelles as well as in the nuclear compartment
  • necessary for correct ciliogenesis in the limb bud but not for cilia outgrowth, in contrast to what was previously shown for the embryonic node
  • plays a role in regulating digit number and identity during limb and skeletal patterning increasing insight on the functional role of primary cilia during development
  • plays a crucial role in forebrain development, and in particular, in the control of dorso-ventral patterning and early corticogenesis
  • functions after docking and before elaboration of the axoneme
  • at centriolar satellites functions as a crucial suppressor of primary ciliogenesis in human cancer cells
  • at centriolar satellites has a crucial role in suppressing primary ciliogenesis, whereas OFD1 at centrioles has been shown to be essential for primary ciliogenesis
  • BBS4 and OFD1 interacted with proteasomal subunits, and loss of either BBS4 or OFD1 led to depletion of multiple subunits from the centrosomal proteasome
  • OFD1 and FOPNL are known to regulate the integrity of the centriole distal end, confirming that this structural element is a target of importance for pathogenic mutations in ciliopathies
    a component
    small molecule
  • directly binds to the ciliary protein lebercilin, encoded by LCA5
  • interacting with RUVBL1
  • direct interaction of FAM161A with lebercilin (LCA5), CEP290, OFD1 and SDCCAG8, all involved in hereditary retinal degeneration
  • localizes to centriolar satellites, interacting with proteins associated with human ciliary disease, PCM1, CEP290 and BBS4
  • C2CD3 physically associates with OFD1
  • KIAA0753vdirectly interacts with OFD1 in the absence of FOPNL, but the interaction between KIAA0753 and OFD1 is much stronger when FOPNL is present in the complex
  • SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, AZI1), of the endosomal sorting complex (RABEP2, ERC1), and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14) at the centrosome
  • cell & other
    Other escaping X-inactivation
    corresponding disease(s) OFD1 , JBTS10 , SGBS2 , RP23
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    loss of BBS4 or OFD1 results in the accumulation of signaling mediators normally targeted for proteasomal degradation
    Variant & Polymorphism
    Candidate gene
    Therapy target
  • animal model which could represent a valuable tool to shed light on the molecular link between mTOR and cysts development and eventually to the identification of novel drug targets for renal cystic disease
  • in autophagy-deficient Atg5 or Atg3 null mouse embryonic fibroblasts, Ofd1 accumulates at centriolar satellites, leading to fewer and shorter primary cilia and a defective recruitment of Bbs4 (Bardet–Biedl syndrome 4) to cilia