ATXN7L3 (ataxin 7 like 3)

2014-08-01  

Identity

HGNC
ATXN7L3
LOCATION
17q21.31
LOCUSID
56970
ALIAS
SGF11
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56970
HGNC: 25416
Ensembl: ENSG00000087152

Variants:

dbSNP: 56970
ClinVar: 56970
TCGA: ENSG00000087152
COSMIC: ATXN7L3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000087152ENST00000389384Q14CW9
ENSG00000087152ENST00000454077Q14CW9
ENSG00000087152ENST00000587097K7EKG9
ENSG00000087152ENST00000589805K7EMZ3
ENSG00000087152ENST00000590169K7ENZ2
ENSG00000087152ENST00000590537K7EJK2
ENSG00000087152ENST00000591295K7ENU1

Expression (GTEx)

0
50
100
150
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
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847

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
182069722008A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing.157
217468792011The tightly controlled deubiquitination activity of the human SAGA complex differentially modifies distinct gene regulatory elements.50
271329402016ATXN7L3 and ENY2 Coordinate Activity of Multiple H2B Deubiquitinases Important for Cellular Proliferation and Tumor Growth.29
206348022010The structural plasticity of SCA7 domains defines their differential nucleosome-binding properties.16

Citation

Dessen P

ATXN7L3 (ataxin 7 like 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54146/atxn7l3