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

Summary

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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

NG_041777.1 RefSeqGene

Range

5662..20178

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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