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

Gene ID: 8481, updated on 25-Jul-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; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
  5. XM_005274602.2XP_005274659.1  

    Conserved Domains (1) summary
    COG0419
    Location:277562
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
  6. XM_005274603.2XP_005274660.1  

    Conserved Domains (1) summary
    COG1196
    Location:258523
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, 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 ATPase [Cell cycle control, cell division, chromosome partitioning]
  8. XM_005274606.2XP_005274663.1  

    Conserved Domains (1) summary
    COG0419
    Location:222507
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [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; DNA repair exonuclease SbcCD ATPase subunit [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; DNA repair exonuclease SbcCD ATPase subunit [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
    type_I_hlyD; 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)