DNAI1 (dynein axonemal intermediate chain 1)

2014-11-01  

Identity

HGNC
LOCATION
9p13.3
LOCUSID
ALIAS
CILD1,DIC1,ICS1,PCD
FUSION GENES

Other Information

Locus ID:

NCBI: 27019
MIM: 604366
HGNC: 2954
Ensembl: ENSG00000122735

Variants:

dbSNP: 27019
ClinVar: 27019
TCGA: ENSG00000122735
COSMIC: DNAI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122735ENST00000242317Q9UI46
ENSG00000122735ENST00000242317A0A140VJI0
ENSG00000122735ENST00000437363Q5T8G8
ENSG00000122735ENST00000442556H0Y6V0
ENSG00000122735ENST00000470169H0YDT9
ENSG00000122735ENST00000614641A0A087WWV9

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
168580152006Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.56
184927032008Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.23
184927032008Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.23
193002642009Primary ciliary dyskinesia: improving the diagnostic approach.23
184347042008DNAI1 mutations explain only 2% of primary ciliary dykinesia.14
211438602010Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).8
289392162018A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.8

Citation

Dessen P

DNAI1 (dynein axonemal intermediate chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62557/dnai1