APTX (aprataxin)

2004-02-01  

Identity

HGNC
APTX
LOCATION
9p21.1
LOCUSID
54840
ALIAS
AOA,AOA1,AXA1,EAOH,EOAHA,FHA-HIT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54840
MIM: 606350
HGNC: 15984
Ensembl: ENSG00000137074

Variants:

dbSNP: 54840
ClinVar: 54840
TCGA: ENSG00000137074
COSMIC: APTX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137074ENST00000309615Q7Z2E3
ENSG00000137074ENST00000379813A0A0A0MRW7
ENSG00000137074ENST00000379817Q7Z2E3
ENSG00000137074ENST00000379819Q7Z2E3
ENSG00000137074ENST00000379825Q7Z2E3
ENSG00000137074ENST00000397172Q7Z2E3
ENSG00000137074ENST00000436040Q7Z2E3
ENSG00000137074ENST00000460940Q7Z2E3
ENSG00000137074ENST00000463596Q7Z2E3
ENSG00000137074ENST00000464632E7EUY4
ENSG00000137074ENST00000465003Q6JV79
ENSG00000137074ENST00000467331Q7Z2E3
ENSG00000137074ENST00000468275Q7Z2E3
ENSG00000137074ENST00000472896Q7Z2E3
ENSG00000137074ENST00000474658F8WBM3
ENSG00000137074ENST00000476858Q7Z2E3
ENSG00000137074ENST00000477119C9J8U3
ENSG00000137074ENST00000478279E7EVB7
ENSG00000137074ENST00000479656Q7Z2E3
ENSG00000137074ENST00000480031F8WBD6
ENSG00000137074ENST00000482687Q7Z2E3
ENSG00000137074ENST00000483148Q6JV79
ENSG00000137074ENST00000485479Q7Z2E3
ENSG00000137074ENST00000494649Q7Z2E3
ENSG00000137074ENST00000495360Q7Z2E3

Expression (GTEx)

0
5
10
15
20
25
30
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
153801052004The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.78
150443832004Aprataxin, a novel protein that protects against genotoxic stress.58
196439122009Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.51
243625672014Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.45
172769822007Actions of aprataxin in multiple DNA repair pathways.41
215025112011Aprataxin localizes to mitochondria and preserves mitochondrial function.40
191037432009Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.31
157191742005The novel human gene aprataxin is directly involved in DNA single-strand-break repair.30
219842102011Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease.27
198615172009Predisposition for TMPRSS2-ERG fusion in prostate cancer by variants in DNA repair genes.26

Citation

Dessen P

APTX (aprataxin)

Atlas Genet Cytogenet Oncol Haematol. 2004-02-01

Online version: http://atlasgeneticsoncology.org/gene/683/aptx