ODAD4 outer dynein arm docking complex subunit 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ODAD4provided by HGNC
Official Full Name: outer dynein arm docking complex subunit 4provided by HGNC
Primary source: HGNC:HGNC:25280
See related: Ensembl:ENSG00000204815 MIM:617095; AllianceGenome:HGNC:25280
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: TTC25
Summary: This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
Expression: Biased expression in testis (RPKM 20.2) and lung (RPKM 1.7) See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17q21.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (41930617..41966503)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42787128..42823000)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40086870..40118521)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
Title: Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
TTC25 variants are associated with quantitative autistic trait in patients with autism spectrum disorder. Variants in TTC25 may also be relevant for broader ASD phenotype in the general population.
Title: Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.
report of TTC25 as a new member of the outer dynein arms docking machinery in humans and mice
Title: TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.

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 35 MedGen: C4310721 OMIM: 617092 GeneReviews: Not available	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)

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

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	IDA Inferred from Direct Assay more info	PubMed
involved_in cilium movement	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cilium movement involved in determination of left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in mucociliary clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outer dynein arm assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in outer dynein arm assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to motile cilium	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in 9+0 motile cilium	IEA Inferred from Electronic Annotation more info
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of outer dynein arm docking complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: outer dynein arm-docking complex subunit 4

Names: TPR repeat protein 25; tetratricopeptide repeat domain 25; tetratricopeptide repeat protein 25

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

NG_053115.1 RefSeqGene

Range

5024..40910

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001350319.2 → NP_001337248.1 outer dynein arm-docking complex subunit 4 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an internal exon which results in a shift in the reading frame, compared to variant 1. This variant encodes isoform (2) which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC125257, AL136760, CB242540

Conserved Domains (3) summary

sd00006
Location:16 → 41

TPR; TPR repeat [structural motif]

pfam13424
Location:318 → 391

TPR_12; Tetratricopeptide repeat

cl26005
Location:20 → 101

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
NM_031421.5 → NP_113609.1 outer dynein arm-docking complex subunit 4 isoform 1

See identical proteins and their annotated locations for NP_113609.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC125257, AL136760, CB242540

Consensus CDS

CCDS74063.1

UniProtKB/Swiss-Prot

Q6NX40, Q6PJ04, Q96NG3, Q9H0K5

Related

ENSP00000478589.1, ENST00000377540.6

Conserved Domains (3) summary

sd00006
Location:16 → 41

TPR; TPR repeat [structural motif]

pfam13414
Location:16 → 78

TPR_11; TPR repeat

pfam13424
Location:361 → 429

TPR_12; Tetratricopeptide repeat

RNA

NR_110662.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC125257, AL136760, BC025390, CB242540
NR_146621.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the 5' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC125257, BC025390, CB242540, CF593846
NR_146622.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences in the 5' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC125257, AL136760, CB242540, CF593846