ACER3 (alkaline ceramidase 3)

2016-10-01  

Identity

HGNC
LOCATION
11q13.5
LOCUSID
ALIAS
APHC,PHCA,PLDECO
FUSION GENES

Other Information

Locus ID:

NCBI: 55331
MIM: 617036
HGNC: 16066
Ensembl: ENSG00000078124

Variants:

dbSNP: 55331
ClinVar: 55331
TCGA: ENSG00000078124
COSMIC: ACER3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000078124ENST00000278544J3KN85
ENSG00000078124ENST00000525194E9PKR3
ENSG00000078124ENST00000525861E9PR08
ENSG00000078124ENST00000526597B7Z2V2
ENSG00000078124ENST00000530334E9PLZ9
ENSG00000078124ENST00000531352E9PKR3
ENSG00000078124ENST00000531461E9PL35
ENSG00000078124ENST00000532485Q9NUN7
ENSG00000078124ENST00000533873B7Z2Q2
ENSG00000078124ENST00000534206E9PIN9

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
200680462010Alkaline ceramidase 3 (ACER3) hydrolyzes unsaturated long-chain ceramides, and its down-regulation inhibits both cell proliferation and apoptosis.35
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
267928562016Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.10
274705832016ACER3 supports development of acute myeloid leukemia.8
300972132018Alkaline ceramidase 3 promotes growth of hepatocellular carcinoma cells via regulating S1P/S1PR2/PI3K/AKT signaling.3

Citation

Dessen P

ACER3 (alkaline ceramidase 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55981/acer3-(alkaline-ceramidase-3)