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

Gene ID: 93233, updated on 5-Mar-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
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Genomic context

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Location:
19q13.33
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48296452..48321971, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51290607..51316116, complement)
105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 14876 Neighboring gene ZNF114 antisense RNA 1 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 transmembrane protein 143 Neighboring gene epithelial membrane protein 3 (MAM blood group) 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
  • 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. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Loges NT, et al. Am J Hum Genet, 2018 Dec 6. PMID 30471718, Free PMC Article

See all (22) 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
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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_2023_10

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

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