ATAD3A (ATPase family AAA domain containing 3A)

2010-09-01  

Identity

HGNC
ATAD3A
LOCATION
1p36.33
LOCUSID
55210
ALIAS
HAYOS,PHRINL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55210
MIM: 612316
HGNC: 25567
Ensembl: ENSG00000197785

Variants:

dbSNP: 55210
ClinVar: 55210
TCGA: ENSG00000197785
COSMIC: ATAD3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197785ENST00000339113H0Y2W2
ENSG00000197785ENST00000378755Q9NVI7
ENSG00000197785ENST00000378756Q9NVI7
ENSG00000197785ENST00000400830Q5SV16
ENSG00000197785ENST00000536055Q9NVI7

Expression (GTEx)

0
5
10
15
20
25
30
35
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
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
172109502007The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization.76
276403072016Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.47
253750352015Mitochondria-associated membrane formation in hormone-stimulated Leydig cell steroidogenesis: role of ATAD3.37
201541472010The AAA+ ATPase ATAD3A controls mitochondrial dynamics at the interface of the inner and outer membranes.34
203321222010ATPase family AAA domain-containing 3A is a novel anti-apoptotic factor in lung adenocarcinoma cells.21
258230222016Mitochondrial ATAD3A combines with GRP78 to regulate the WASF3 metastasis-promoting protein.21
285491282017ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
223183592012ATAD3, a vital membrane bound mitochondrial ATPase involved in tumor progression.16
186395452008ATAD 3A and ATAD 3B are distal 1p-located genes differentially expressed in human glioma cell lines and present in vitro anti-oncogenic and chemoresistant properties.15

Citation

Dessen P

ATAD3A (ATPase family AAA domain containing 3A)

Atlas Genet Cytogenet Oncol Haematol. 2010-09-01

Online version: http://atlasgeneticsoncology.org/gene/51672/atad3a