DNAL1 (dynein axonemal light chain 1)

2012-01-01  

Identity

HGNC
DNAL1
LOCATION
14q24.3
LOCUSID
83544
ALIAS
C14orf168,CILD16,LC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83544
MIM: 610062
HGNC: 23247
Ensembl: ENSG00000119661

Variants:

dbSNP: 83544
ClinVar: 83544
TCGA: ENSG00000119661
COSMIC: DNAL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119661ENST00000311089Q4LDG9
ENSG00000119661ENST00000553645Q4LDG9
ENSG00000119661ENST00000554113G3V5I4
ENSG00000119661ENST00000554159H0YJD6
ENSG00000119661ENST00000554339G3V2M0
ENSG00000119661ENST00000554871Q4LDG9
ENSG00000119661ENST00000555631G3V424
ENSG00000119661ENST00000555919G3V389
ENSG00000119661ENST00000559993H0YM28

Expression (GTEx)

0
5
10
15
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
368415092023Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations.1
368415092023Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations.1
220184922012Knockdown of MAP4 and DNAL1 produces a post-fusion and pre-nuclear translocation impairment in HIV-1 replication.17
220184922012Knockdown of MAP4 and DNAL1 produces a post-fusion and pre-nuclear translocation impairment in HIV-1 replication.17
214967872011Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.68
214967872011Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
158458662005Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.23
158458662005Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.23

Citation

Dessen P

DNAL1 (dynein axonemal light chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52573/dnal1