ATL3 (atlastin GTPase 3)

2016-10-01  

Identity

HGNC
ATL3
LOCATION
11q13.1
LOCUSID
25923
ALIAS
HSN1F
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25923
MIM: 609369
HGNC: 24526
Ensembl: ENSG00000184743

Variants:

dbSNP: 25923
ClinVar: 25923
TCGA: ENSG00000184743
COSMIC: ATL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184743ENST00000398868Q6DD88
ENSG00000184743ENST00000538786F5H6I7
ENSG00000184743ENST00000540699F5GWF8

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

References

Pubmed IDYearTitleCitations
182702072008Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.78
307733652019ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy.26
244591062014Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.20
288355462017ER remodeling by the large GTPase atlastin promotes vacuolar growth of Legionella pneumophila.14
257732772015Human atlastin GTPases mediate differentiated fusion of endoplasmic reticulum membranes.12
297682022018Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.7
303391872019Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.6
306663372019A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.5

Citation

Dessen P

ATL3 (atlastin GTPase 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56067/atl3