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    ODAD1 outer dynein arm docking complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 93233, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ODAD1provided by HGNC
    Official Full Name
    outer dynein arm docking complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:26560
    See related
    Ensembl:ENSG00000105479 MIM:615038; AllianceGenome:HGNC:26560
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CILD20; CCDC114
    Summary
    This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]
    Expression
    Biased expression in testis (RPKM 9.6), lung (RPKM 2.2) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ODAD1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48296452..48321971, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51290607..51316116, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48799709..48825228, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene caspase recruitment domain family member 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14875 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48763364-48763544 Neighboring gene CARD8 antisense RNA 1 Neighboring gene ZNF114 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48774579-48775085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48775086-48775591 Neighboring gene zinc finger protein 114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48794631-48795279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48798559-48799060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48799061-48799560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48800397-48800914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48806581-48807105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48807106-48807629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48811608-48812298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48812299-48812988 Neighboring gene Sharpr-MPRA regulatory region 8297 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10875 Neighboring gene uncharacterized LOC124904735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14879 Neighboring gene Sharpr-MPRA regulatory region 73 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14881 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48827824-48828055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48836515-48837250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48842328-48843265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48845414-48845914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48845915-48846415 Neighboring gene epithelial membrane protein 3 (MAM blood group) Neighboring gene transmembrane protein 143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14888

    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. Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation. Kos R, et al. Am J Med Genet C Semin Med Genet, 2022 Mar. PMID 35343062, Free PMC Article
    2. Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. Ostrowski LE, et al. Int J Mol Sci, 2022 Feb 3. PMID 35163670, Free PMC Article
    3. CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease. Li P, et al. J Hum Genet, 2019 Jan. PMID 30291279
    4. Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia. Wu DH, et al. Clin Genet, 2013 Jun. PMID 23506398
    5. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Onoufriadis A, et al. Am J Hum Genet, 2013 Jan 10. PMID 23261303, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
      Title: Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
    2. Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.
      Title: Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.
    3. CCDC114 mutation is associated with primary ciliary dyskinesia, sensorineural deafness, and renal disease.
      Title: CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease.
    4. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
      Title: Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
    5. These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders.
      Title: Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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 20
    MedGen: C3540844 OMIM: 615067 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

    • FLJ32926

    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 cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within 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 outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in outer dynein arm assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of outer dynein arm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 1
    Names
    coiled-coil domain containing 114
    coiled-coil domain-containing protein 114

    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_033251.1 RefSeqGene

      Range
      3105..28614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001364171.2 → NP_001351100.1  outer dynein arm-docking complex subunit 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008392, AK128144, AL122083, BC117431, HY002728, HY026155
      Consensus CDS
      CCDS92659.1
      UniProtKB/TrEMBL
      A0A6I8PTZ2
      Related
      ENSP00000501363.1, ENST00000674294.1
      Conserved Domains (1) summary
      cl25732
      Location:4 → 411
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_144577.4 → NP_653178.3  outer dynein arm-docking complex subunit 1 isoform 2

      See identical proteins and their annotated locations for NP_653178.3

      Status: VALIDATED

      Source sequence(s)
      AC008392, AK057488, BC007730, BX101994, DB060305
      Consensus CDS
      CCDS12714.2
      UniProtKB/Swiss-Prot
      Q6ZRL4, Q96M06, Q96M63, Q9UFG8
      Related
      ENSP00000318429.7, ENST00000315396.7
      Conserved Domains (1) summary
      cl19816
      Location:23 → 130
      Hydantoinase_B; Hydantoinase B/oxoprolinase

    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
      48296452..48321971 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51290607..51316116 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001135193.1: Suppressed sequence

      Description
      NM_001135193.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_001135194.1: Suppressed sequence

      Description
      NM_001135194.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M63.3 GenPept UniProtKB/Swiss-Prot:Q96M63

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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