ACER3 (alkaline ceramidase 3)

2016-10-01  

Identity

HGNC
ACER3
LOCATION
11q13.5
LOCUSID
55331
ALIAS
APHC,PHCA,PLDECO
FUSION GENES
Show Gene Fusions

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
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

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
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
348177522022LINC01087 indicates a poor prognosis of glioma patients with preoperative MRI.4
350345722022Circular RNA circ_0001955 promotes hepatocellular carcinoma tumorigenesis by up-regulating alkaline ceramidase 3 expression through microRNA-655-3p.2
360488282022Alkaline ceramidase catalyzes the hydrolysis of ceramides via a catalytic mechanism shared by Zn2+-dependent amidases.1
348177522022LINC01087 indicates a poor prognosis of glioma patients with preoperative MRI.4
350345722022Circular RNA circ_0001955 promotes hepatocellular carcinoma tumorigenesis by up-regulating alkaline ceramidase 3 expression through microRNA-655-3p.2
360488282022Alkaline ceramidase catalyzes the hydrolysis of ceramides via a catalytic mechanism shared by Zn2+-dependent amidases.1
342816202021ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.0
342816202021ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.0
300972132018Alkaline ceramidase 3 promotes growth of hepatocellular carcinoma cells via regulating S1P/S1PR2/PI3K/AKT signaling.19
300972132018Alkaline ceramidase 3 promotes growth of hepatocellular carcinoma cells via regulating S1P/S1PR2/PI3K/AKT signaling.19
267928562016Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.24
274705832016ACER3 supports development of acute myeloid leukemia.18
267928562016Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.24
274705832016ACER3 supports development of acute myeloid leukemia.18
200680462010Alkaline ceramidase 3 (ACER3) hydrolyzes unsaturated long-chain ceramides, and its down-regulation inhibits both cell proliferation and apoptosis.47

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)