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    ODAD3 outer dynein arm docking complex subunit 3 [ Homo sapiens (human) ]

    Gene ID: 115948, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ODAD3provided by HGNC
    Official Full Name
    outer dynein arm docking complex subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:28303
    See related
    Ensembl:ENSG00000198003 MIM:615956; AllianceGenome:HGNC:28303
    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
    ODA10; CILD30; CCDC151
    Summary
    This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
    Expression
    Broad expression in testis (RPKM 5.1), lung (RPKM 1.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ODAD3 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11420605..11435782, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11547569..11563304, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11531273..11546603, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11492093-11492630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10110 Neighboring gene erythropoietin receptor Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11514342-11514533 Neighboring gene ral guanine nucleotide dissociation stimulator like 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11516407-11517358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11546061-11546560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14018 Neighboring gene uncharacterized LOC124904800 Neighboring gene PRKCSH beta subunit of glucosidase II Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11563051-11563821 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11564685-11564866 Neighboring gene ELAV like RNA binding protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11590379-11590573

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Chlamydomonas ODA10 is a conserved axonemal protein that plays a unique role in outer dynein arm assembly. Dean AB, et al. Mol Biol Cell, 2013 Dec. PMID 24088566, Free PMC Article
    2. Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia. Alsaadi MM, et al. Hum Mutat, 2014 Dec. PMID 25224326, Free PMC Article
    3. Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus. Zhang W, et al. J Hum Genet, 2019 Mar. PMID 30504913
    4. Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome. Deng S, et al. Biosci Rep, 2020 Jun 26. PMID 32490514, Free PMC Article
    5. TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. Wallmeier J, et al. Am J Hum Genet, 2016 Aug 4. PMID 27486780, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.
      Title: Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.
    2. CCDC151 mutation is associated with primary ciliary dyskinesia and situs inversus.
      Title: Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.
    3. observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry
      Title: Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.
    4. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
      Title: CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Primary ciliary dyskinesia 30
    MedGen: C4015016 OMIM: 616037 GeneReviews: Primary Ciliary Dyskinesia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31801, MGC20983

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebrospinal fluid circulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in determination of heart left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in epithelial cilium movement involved in determination of left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in flagellated sperm motility IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within outer dynein arm assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary rootlet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in ciliary tip IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of outer dynein arm docking complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    outer dynein arm-docking complex subunit 3
    Names
    coiled-coil domain containing 151
    coiled-coil domain-containing protein 151

    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.

    Genomic

    1. NG_041777.1 RefSeqGene

      Range
      5662..20178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001302453.1 → NP_001289382.1  outer dynein arm-docking complex subunit 3 isoform 2

      See identical proteins and their annotated locations for NP_001289382.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK302113
      UniProtKB/TrEMBL
      B7ZMB9
      Conserved Domains (1) summary
      TIGR02168
      Location:90 → 419
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. NM_001302454.2 → NP_001289383.1  outer dynein arm-docking complex subunit 3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons in the coding region, compared to variant 1. It encodes isoform 3 which is shorter than isoform 1.
      Source sequence(s)
      AC008481, AK308072
      Consensus CDS
      CCDS77237.1
      UniProtKB/TrEMBL
      B3KPH7, K7EN59
      Related
      ENSP00000466800.1, ENST00000591179.5
      Conserved Domains (1) summary
      TIGR02168
      Location:131 → 413
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    3. NM_145045.5 → NP_659482.3  outer dynein arm-docking complex subunit 3 isoform 1

      See identical proteins and their annotated locations for NP_659482.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK056363, BC036041, DB040667
      Consensus CDS
      CCDS42501.1
      UniProtKB/Swiss-Prot
      A5D8V7, B4DXT0, Q96CG5
      UniProtKB/TrEMBL
      B3KPH7
      Related
      ENSP00000348757.3, ENST00000356392.9
      Conserved Domains (1) summary
      TIGR02168
      Location:144 → 473
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      11420605..11435782 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026241.2 → XP_016881730.1  outer dynein arm-docking complex subunit 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11547569..11563304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319731.1 → XP_054175706.1  outer dynein arm-docking complex subunit 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A5D8V7.1 GenPept UniProtKB/Swiss-Prot:A5D8V7

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