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    OFD1 oral-facial-digital syndrome 1 [ Homo sapiens (human) ]

    Gene ID: 8481, updated on 30-Jun-2015
    Official Symbol
    OFD1provided by HGNC
    Official Full Name
    oral-facial-digital syndrome 1provided by HGNC
    Primary source
    HGNC:HGNC:2567
    See related
    Ensembl:ENSG00000046651; HPRD:02162; MIM:300170; Vega:OTTHUMG00000021159
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RP23; 71-7A; SGBS2; CXorf5; JBTS10
    Summary
    This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008]
    Orthologs
    See OFD1 in Epigenomics, MapViewer
    Location:
    Xp22
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (13715423..13771402)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (13733549..13787480)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene transcription elongation factor A (SII) N-terminal and central domain containing Neighboring gene RAB9A, member RAS oncogene family Neighboring gene trafficking protein particle complex 2 Neighboring gene glycoprotein M6B Neighboring gene uncharacterized LOC105373138 Neighboring gene gem (nuclear organelle) associated protein 8

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-31)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-31)

    ClinGen Genome Curation PagePubMed
    • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
      Anchoring of the basal body to the plasma membrane, organism-specific biosystemThe primary cilium is a microtubule-based organelle that is present on differentiated cells of nearly all eukaryotes. Cilium biogenesis is initiated by the docking of basal bodies, a centriole-derive...
    • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
      Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Centrosome maturation, organism-specific biosystem (from REACTOME)
      Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
    • G2/M Transition, organism-specific biosystem (from REACTOME)
      G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
    • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
      Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
    • Loss of proteins required for interphase microtubule organizationfrom the centrosome, organism-specific biosystem (from REACTOME)
      Loss of proteins required for interphase microtubule organizationfrom the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
    • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
      Mitotic G2-G2/M phases, organism-specific biosystem
      Mitotic G2-G2/M phases
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
      Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
    • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
      Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC117039, MGC117040

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    gamma-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G2/M transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    axoneme assembly IEA
    Inferred from Electronic Annotation
    more info
     
    NOT centriole replication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cilium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial cilium movement involved in determination of left/right asymmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    NOT mitotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT mitotic spindle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    organelle organization TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    centriolar satellite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    oral-facial-digital syndrome 1 protein
    Names
    protein 71-7A

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008872.1 RefSeqGene

      Range
      5001..39649
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003611.2NP_003602.1  oral-facial-digital syndrome 1 protein

      See identical proteins and their annotated locations for NP_003602.1

      Status: REVIEWED

      Source sequence(s)
      AC003037, CB134304, Y15164
      Consensus CDS
      CCDS14157.1
      UniProtKB/TrEMBL
      E9KL37
      UniProtKB/Swiss-Prot
      O75665
      Related
      ENSP00000344314, OTTHUMP00000022940, ENST00000340096, OTTHUMT00000055808
      Conserved Domains (1) summary
      COG0419
      Location:270555
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      13715423..13771402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545596.1XP_011543898.1  

      Conserved Domains (1) summary
      COG0419
      Location:277562
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    2. XM_011545593.1XP_011543895.1  

      Conserved Domains (1) summary
      COG0419
      Location:277562
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    3. XM_011545591.1XP_011543893.1  

      Conserved Domains (1) summary
      COG0419
      Location:277562
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    4. XM_005274599.2XP_005274656.1  

      Conserved Domains (1) summary
      COG0419
      Location:277562
      SbcC; ATPase involved in DNA repair [DNA replication, recombination, and repair]
    5. XM_005274602.2XP_005274659.1  

      Conserved Domains (1) summary
      COG0419
      Location:277562
      SbcC; ATPase involved in DNA repair [DNA replication, recombination, and repair]
    6. XM_005274603.2XP_005274660.1  

      Conserved Domains (1) summary
      COG1196
      Location:258523
      Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    7. XM_005274604.2XP_005274661.1  

      See identical proteins and their annotated locations for XP_005274661.1

      UniProtKB/Swiss-Prot
      O75665
      Related
      ENSP00000369923, ENST00000380550
      Conserved Domains (1) summary
      COG1196
      Location:251516
      Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    8. XM_005274606.2XP_005274663.1  

      Conserved Domains (1) summary
      COG0419
      Location:222507
      SbcC; ATPase involved in DNA repair [DNA replication, recombination, and repair]
    9. XM_011545592.1XP_011543894.1  

      Conserved Domains (1) summary
      COG0419
      Location:206491
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    10. XM_011545597.1XP_011543899.1  

      See identical proteins and their annotated locations for XP_011543899.1

      Related
      ENSP00000369941, OTTHUMP00000022941, ENST00000380567, OTTHUMT00000055809
      Conserved Domains (1) summary
      COG0419
      Location:130415
      SbcC; ATPase involved in DNA repair [DNA replication, recombination, and repair]
    11. XM_011545595.1XP_011543897.1  

      See identical proteins and their annotated locations for XP_011543897.1

      Conserved Domains (1) summary
      COG0419
      Location:163448
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    12. XM_011545594.1XP_011543896.1  

      See identical proteins and their annotated locations for XP_011543896.1

      Conserved Domains (1) summary
      COG0419
      Location:163448
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    13. XM_005274607.3XP_005274664.1  

      UniProtKB/TrEMBL
      A6NF31
      Conserved Domains (1) summary
      COG0419
      Location:130415
      SbcC; ATPase involved in DNA repair [DNA replication, recombination, and repair]
    14. XM_011545598.1XP_011543900.1  

      See identical proteins and their annotated locations for XP_011543900.1

      Conserved Domains (1) summary
      TIGR01843
      Location:25132
      Hemolysin_secretion_protein_D_plasmid; type I secretion membrane fusion protein, HlyD family

    RNA

    1. XR_247288.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      13783650..13818298
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)