DNAI1 (dynein axonemal intermediate chain 1)

2014-11-01  

Identity

HGNC
DNAI1
LOCATION
9p13.3
LOCUSID
27019
ALIAS
CILD1,DIC1,ICS1,PCD
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
344455272021Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.3
344455272021Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.3
317720282020Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.12
317720282020Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.12
289392162018A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.16
289392162018A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.16
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
211438602010Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).13
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
211438602010Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).13
193002642009Primary ciliary dyskinesia: improving the diagnostic approach.26
193002642009Primary ciliary dyskinesia: improving the diagnostic approach.26
184347042008DNAI1 mutations explain only 2% of primary ciliary dykinesia.16
184927032008Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.36
184927032008Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.36

Citation

Dessen P

DNAI1 (dynein axonemal intermediate chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62557/js/template.js