DNAI1

Chr 9AR

dynein axonemal intermediate chain 1

Also known as: CILD1, DIC1, ICS1, PCD, oda6

NCBI Gene: 27019 ENSG00000122735 UniProt: Q9UI46 OMIM: 604366

The DNAI1 protein is a component of the dynein motor complex that generates force for ciliary movement in respiratory cilia and is required for structural and functional integrity of cilia. Mutations cause primary ciliary dyskinesia with or without situs inversus (Kartagener syndrome), affecting respiratory function and potentially organ positioning. This condition follows autosomal recessive inheritance and typically presents in early childhood with chronic respiratory symptoms.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 1, with or without situs inversusMIM #244400

UniProtKartagener syndrome

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · primary ciliary dyskinesia 1 · AR · ClinGen 2022

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.72

LOEUF

Mechanism· predicted

📖

GeneReview available — DNAI1

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.72LOEUF

pLI 0.000

Z-score 2.91

OE 0.49 (0.34–0.72)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.29Z-score

OE missense 1.04 (0.96–1.14)

382 obs / 366.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.49 (0.34–0.72)

0≤0.351.4

Missense OE?1.04 (0.96–1.14)

0≤0.61.4

Synonymous OE?1.17

0≤1.21.6

LoF obs/exp: 19 / 38.4Missense obs/exp: 382 / 366.2Syn Z: -1.64

Background carrier burden — how many people carry a rare variant somewhere in DNAI1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 50

901 rare PASS variants

Rare truncating (LoF)

1 in 360

147 rare PASS variants

Rare synonymous (reference)

1 in 180

341 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DNAI1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 80	1 in 320
South Asian	~43k	1 in 54	1 in 1,200
Remaining (unassigned)	~30k	1 in 50	1 in 380
European (Finnish)	~27k	1 in 280	1 in 1,500
Admixed American	~22k	1 in 63	1 in 470
African / African American	~21k	1 in 64	1 in 660
East Asian	~20k	1 in 78	1 in 3,300
Ashkenazi Jewish	~13k	1 in 210	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 64	1 in 480

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 20 coding exons well covered in gnomAD exomes and genomes.? see exons ↓