Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000052

Gene Ontology annotation based on curation of immunofluorescence data

GO_REF:0000107

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

GO_REF:0000117

Electronic Gene Ontology annotations created by ARBA machine learning models

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:10577904

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

Human DNAI1 encodes an axonemal intermediate-chain protein; truncating variants were found with immotile respiratory cilia lacking outer arms.

PMID:11231901

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

Human DNAI1 mutations cause primary ciliary dyskinesia with variable laterality among affected families.

PMID:15750039

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

In the examined DNAI1-mutant respiratory cells, DNAH5 is retained proximally but lost distally, and DNAH9 is absent from axonemes.

PMID:16858015

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

DNAI1 disease variants are associated with outer-dynein-arm defects in human primary ciliary dyskinesia.

PMID:17515466

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia.

PCD patients with laterality abnormalities are enriched for outer-arm defects and mutations in outer-arm genes.

PMID:18492703

Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.

The study reports possible associations between dynein-gene variants and reduced sperm motility without detected axonemal ultrastructural abnormalities.

PMID:18950741

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

DNAI1-mutant human respiratory cells can retain proximal DNAI2 while losing distal DNAI2, showing partial preservation of outer-arm assembly.

PMID:22499950

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

Heterotaxy with ciliary dysfunction can include a known DNAI1 founder allele, but the cohort does not establish biallelic DNAI1 disease in those heterotaxy cases.

PMID:23664119

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.

Tagged human BICD2 associates with endogenous dynein intermediate-chain material; the exact intermediate-chain identity relevant to the DNAI1 assertion remains unresolved.

PMID:27120127

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

The study establishes GAS8-dependent nexin-dynein regulatory-complex organization in human respiratory cilia.

PMID:33139725

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

DNAI1 associates with CFAP52 in respiratory-cell complexes and in a tagged HEK293 co-immunoprecipitation assay.

PMID:33263282

Functional partitioning of a liquid-like organelle during assembly of axonemal dyneins.

Human DNAI1 occupies both mature axonemes and cytoplasmic DynAPs.

PMID:39503742

DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice.

DNAI1 is detected in human sperm flagella in controls and DNAH3-variant patients.

PMID:28057765

Insulin signaling regulates a functional interaction between adenomatous polyposis coli and cytoplasmic dynein.

Insulin/GSK3beta regulates cytoplasmic dynein-dependent transport in the examined cells; the named constructs and reagents do not establish this activity for axonemal DNAI1.

PMID:37352829

CFAP70 is a solid and valuable target for the genetic diagnosis of oligo-astheno-teratozoospermia in infertile men.

DNAI1 localizes to the manchette of wild-type elongating mouse spermatids, with partial redistribution after Cfap70 loss.

file:human/DNAI1/DNAI1-uniprot.txt

UniProt Q9UI46 human DNAI1 record