AFG1L (AFG1 like ATPase)

2018-07-01  

Identity

HGNC
LOCATION
6q21
LOCUSID
ALIAS
AFG1,LACE1,c222389

Other Information

Locus ID:

NCBI: 246269
MIM: 617469
HGNC: 16411
Ensembl: ENSG00000135537

Variants:

dbSNP: 246269
ClinVar: 246269
TCGA: ENSG00000135537
COSMIC: AFG1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135537ENST00000368977Q8WV93
ENSG00000135537ENST00000421954H0Y5F4
ENSG00000135537ENST00000431865H7C448
ENSG00000135537ENST00000437715A6ZJA2

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
267593782016The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.11
273234082016LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis.9
267593782016The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.11
273234082016LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis.9
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
208727682010An investigation of candidate regions for association with bipolar disorder.3
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
208727682010An investigation of candidate regions for association with bipolar disorder.3
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
182375522008Single nucleotide polymorphism C/T(-13910), located upstream of the lactase gene, associated with adult-type hypolactasia: validation for clinical practice.11

Citation

Dessen P

AFG1L (AFG1 like ATPase)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57583/afg1l-(afg1-like-atpase)