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    ofd1 OFD1 centriole and centriolar satellite protein [ Danio rerio (zebrafish) ]

    Gene ID: 327216, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ofd1provided by ZNC
    Official Full Name
    OFD1 centriole and centriolar satellite proteinprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-5427
    See related
    Ensembl:ENSDARG00000000529 AllianceGenome:ZFIN:ZDB-GENE-030131-5427
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zgc:92562; wu:fa07a10; wu:fd17e11
    Summary
    Acts upstream of or within convergent extension involved in gastrulation; determination of heart left/right asymmetry; and epithelial cilium movement involved in determination of left/right asymmetry. Located in centrosome; ciliary basal body; and nucleus. Is expressed in Kupffer's vesicle; lateral line primordium; neuromast; and otic vesicle. 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, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See ofd1 in Genome Data Viewer
    Location:
    chromosome: 9
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 9 NC_007120.7 (54716436..54743987)
    105 previous assembly GRCz10 (GCF_000002035.5) 9 NC_007120.6 (55126923..55154474)

    Chromosome 9 - NC_007120.7Genomic Context describing neighboring genes Neighboring gene RAB9A, member RAS oncogene family Neighboring gene trafficking protein particle complex subunit 2 Neighboring gene glycoprotein M6Bb Neighboring gene glycine receptor, alpha 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. RNA expression profiles and data mining of sugarcane response to low temperature. Nogueira FT, et al. Plant Physiol, 2003 Aug. PMID 12913139, Free PMC Article
    2. Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1. Lopes CA, et al. J Cell Sci, 2011 Feb 15. PMID 21266464, Free PMC Article
    3. Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant. Ferrante MI, et al. Genomics, 2003 Jun. PMID 12782125
    4. Ependymal polarity defects coupled with disorganized ciliary beating drive abnormal cerebrospinal fluid flow and spine curvature in zebrafish. Xie H, et al. PLoS Biol, 2023 Mar. PMID 36862758, Free PMC Article
    5. IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1. Ka HI, et al. Cell Biosci, 2023 Oct 28. PMID 37898820, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment.
      Title: Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
    2. Ofd1 is required for ciliary motility and function in zebrafish.
      Title: Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC92562

    Gene Ontology Provided by ZFIN

    Process Evidence Code Pubs
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within convergent extension IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within convergent extension involved in gastrulation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within convergent extension involved in gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of heart left/right asymmetry IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of heart left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in epithelial cilium movement involved in determination of left/right asymmetry IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centriole and centriolar satellite protein ofd1
    Names
    oral-facial-digital syndrome 1 protein homolog

    NCBI Reference Sequences (RefSeq)

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    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_001004496.2 → NP_001004496.2  centriole and centriolar satellite protein ofd1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL732610, FO704820
      UniProtKB/Swiss-Prot
      Q7SZK7
      UniProtKB/TrEMBL
      A0A8M1N1T2
      Conserved Domains (1) summary
      pfam16045
      Location:69 → 96
      LisH_2; LisH

    2. NM_001319208.1 → NP_001306137.1  centriole and centriolar satellite protein ofd1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform 1.
      Source sequence(s)
      AL732610, FO704820
      UniProtKB/Swiss-Prot
      Q7SZK7
      UniProtKB/TrEMBL
      A0A8M1P2T3, F1QL50
      Related
      ENSDARP00000000952.10, ENSDART00000000552.12
      Conserved Domains (1) summary
      pfam16045
      Location:69 → 96
      LisH_2; LisH

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007120.7 Reference GRCz11 Primary Assembly

      Range
      54716436..54743987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_009305014.4 → XP_009303289.1  centriole and centriolar satellite protein ofd1 isoform X1

      UniProtKB/Swiss-Prot
      Q7SZK7
      UniProtKB/TrEMBL
      A0A8M3AWD4
      Conserved Domains (1) summary
      pfam16045
      Location:69 → 96
      LisH_2; LisH
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7SZK7.1 GenPept UniProtKB/Swiss-Prot:Q7SZK7

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