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
368561392023A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.4
371029972023Human atlastin-3 is a constitutive ER membrane fusion catalyst.4
368561392023A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.4
371029972023Human atlastin-3 is a constitutive ER membrane fusion catalyst.4
339886782021Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate autophagy.19
340900202021Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.2
339886782021Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate autophagy.19
340900202021Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.2
303391872019Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.17
306663372019A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.23
307733652019ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy.124
303391872019Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.17
306663372019A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.23
307733652019ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy.124
297682022018Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.15

Citation

Dessen P

ATL3 (atlastin GTPase 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56067/atl3-(atlastin-gtpase-3)