U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 115948, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
19p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11420605..11435782, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11547569..11563304, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. 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
  2. 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
  3. 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
  4. 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
  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 (22) 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

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.

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_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
    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

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous