ATL1 (atlastin GTPase 1)

2016-10-01  

Identity

HGNC
ATL1
LOCATION
14q22.1
LOCUSID
51062
ALIAS
AD-FSP,FSP1,GBP3,HSN1D,SPG3,SPG3A,atlastin1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51062
MIM: 606439
HGNC: 11231
Ensembl: ENSG00000198513

Variants:

dbSNP: 51062
ClinVar: 51062
TCGA: ENSG00000198513
COSMIC: ATL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198513ENST00000358385Q8WXF7
ENSG00000198513ENST00000358385A0A0S2Z5B0
ENSG00000198513ENST00000441560Q8WXF7
ENSG00000198513ENST00000441560A0A0S2Z5A2
ENSG00000198513ENST00000553509G3V321
ENSG00000198513ENST00000554886G3V4Y8
ENSG00000198513ENST00000555266H0YJ65
ENSG00000198513ENST00000555960G3V5T4
ENSG00000198513ENST00000556067H0YJA7
ENSG00000198513ENST00000557735G3V334

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
379272452024A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.0
382063052024Targeting of FSP1 regulates iron homeostasis in drug-tolerant persister head and neck cancer cells via lipid-metabolism-driven ferroptosis.1
383018882024Helical domain of hGBP3 cannot stimulate the second phosphate cleavage of GTP.0
379272452024A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.0
382063052024Targeting of FSP1 regulates iron homeostasis in drug-tolerant persister head and neck cancer cells via lipid-metabolism-driven ferroptosis.1
383018882024Helical domain of hGBP3 cannot stimulate the second phosphate cleavage of GTP.0
359258622023De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.3
365372312023Copy number variations in SPAST and ATL1 are rare among Brazilians.1
367177932023Circ-ATL1 silencing reverses the activation effects of SIRT5 on smooth muscle cellular proliferation, migration and contractility in intracranial aneurysm by adsorbing miR-455.3
376339732023FSP1 confers ferroptosis resistance in KEAP1 mutant non-small cell lung carcinoma in NRF2-dependent and -independent manner.6
378488232023DNA methylation-regulated LINC02587 inhibits ferroptosis and promotes the progression of glioma cells through the CoQ-FSP1 pathway.1
359258622023De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.3
365372312023Copy number variations in SPAST and ATL1 are rare among Brazilians.1
367177932023Circ-ATL1 silencing reverses the activation effects of SIRT5 on smooth muscle cellular proliferation, migration and contractility in intracranial aneurysm by adsorbing miR-455.3
376339732023FSP1 confers ferroptosis resistance in KEAP1 mutant non-small cell lung carcinoma in NRF2-dependent and -independent manner.6

Citation

Dessen P

ATL1 (atlastin GTPase 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55983