DNAAF1 (dynein axonemal assembly factor 1)

2018-11-01  

Identity

HGNC
DNAAF1
LOCATION
16q24.1
LOCUSID
123872
ALIAS
CILD13,DAU1,LRRC50,ODA7,swt
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 123872
MIM: 613190
HGNC: 30539
Ensembl: ENSG00000154099

Variants:

dbSNP: 123872
ClinVar: 123872
TCGA: ENSG00000154099
COSMIC: DNAAF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154099ENST00000378553Q8NEP3
ENSG00000154099ENST00000378553A0A140VJN4
ENSG00000154099ENST00000563093Q8NEP3
ENSG00000154099ENST00000564928H3BV09
ENSG00000154099ENST00000567918H3BP51
ENSG00000154099ENST00000569735H3BNQ4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
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
199444002009Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.90
199444052009Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.63
183854252008LRRC50, a conserved ciliary protein implicated in polycystic kidney disease.35
279960462016Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.13
275432932016Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans.8
292283332018DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.8
309391862019Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic Lateral Sclerosis.0

Citation

Dessen P

DNAAF1 (dynein axonemal assembly factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57721/dnaaf1