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    Ofd1 OFD1, centriole and centriolar satellite protein [ Mus musculus (house mouse) ]

    Gene ID: 237222, updated on 27-Nov-2024

    Summary

    Official Symbol
    Ofd1provided by MGI
    Official Full Name
    OFD1, centriole and centriolar satellite proteinprovided by MGI
    Primary source
    MGI:MGI:1350328
    See related
    Ensembl:ENSMUSG00000040586 AllianceGenome:MGI:1350328
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ORF2; Cxorf5; DXGgc7e
    Summary
    Enables alpha-tubulin binding activity and gamma-tubulin binding activity. Involved in several processes, including embryonic body morphogenesis; epithelial cilium movement involved in determination of left/right asymmetry; and negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation. Acts upstream of or within axoneme assembly. Located in centriolar satellite; centriole; and ciliary basal body. Is expressed in several structures, including brain; forelimb; limb bud; reproductive system; and sensory organ. Used to study orofaciodigital syndrome I. Human ortholog(s) of this gene implicated in Joubert syndrome 10; Simpson-Golabi-Behmel syndrome type 2; orofaciodigital syndrome I; retinitis pigmentosa; and retinitis pigmentosa 23. Orthologous to human OFD1 (OFD1 centriole and centriolar satellite protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 2.6), CNS E14 (RPKM 2.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ofd1 in Genome Data Viewer
    Location:
    X F5; X 77.28 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (165171503..165223704, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (166386573..166440704, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene Neighboring gene gem nuclear organelle associated protein 8 Neighboring gene STARR-seq mESC enhancer starr_48252 Neighboring gene glycoprotein m6b Neighboring gene STARR-positive B cell enhancer ABC_E11806 Neighboring gene trafficking protein particle complex 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:162917789-162917898 Neighboring gene RAB9, member RAS oncogene family

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    centriole and centriolar satellite protein OFD1
    Names
    oral-facial-digital syndrome 1 gene homolog
    oral-facial-digital syndrome 1 protein homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001423447.1NP_001410376.1  centriole and centriolar satellite protein OFD1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL671905, AL672174
    2. NM_177429.4NP_803178.3  centriole and centriolar satellite protein OFD1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL671905, AL672174
      Consensus CDS
      CCDS53248.1
      UniProtKB/Swiss-Prot
      Q80Z25
      Related
      ENSMUSP00000041744.10, ENSMUST00000049501.10

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      165171503..165223704 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528839.5XP_006528902.1  centriole and centriolar satellite protein OFD1 isoform X1

      UniProtKB/TrEMBL
      A2AEG2
      Conserved Domains (3) summary
      COG1196
      Location:277558
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam10459
      Location:182359
      Peptidase_S46; Peptidase S46
      pfam16045
      Location:76102
      LisH_2
    2. XM_036161947.1XP_036017840.1  centriole and centriolar satellite protein OFD1 isoform X3

      Conserved Domains (1) summary
      COG1196
      Location:2283
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    3. XM_036161946.1XP_036017839.1  centriole and centriolar satellite protein OFD1 isoform X2

      Conserved Domains (1) summary
      COG1196
      Location:2283
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RNA

    1. XR_004940336.1 RNA Sequence