ACER3
entrez
55331
canonical
uniprot
Q9NUN7
canonical
ensembl
ENSG00000078124
resolver
ensp
ENSP00000431149
resolver
ensp
ENSP00000434480
resolver
ensp
ENSP00000435733
resolver
ensp
ENSP00000436252
resolver
ensp
ENSP00000505175
resolver
ensp
ENSP00000505842
resolver
ensp
ENSP00000550975
resolver
ensp
ENSP00000665868
resolver
ensp
ENSP00000713539
resolver
enst
ENST00000526597
resolver
enst
ENST00000533873
resolver
enst
ENST00000679866
resolver
enst
ENST00000680583
resolver
genesymbol
ACER3
resolver
genesymbol_syn
APHC
resolver
genesymbol_syn
PHCA
resolver
hgnc
HGNC:16066
resolver
uniprot
A0A7P0T8K3
resolver
uniprot
B2RC99
resolver
uniprot
B7Z1R2
resolver
uniprot
B7Z2Q2
resolver
uniprot
B7Z2V2
resolver
uniprot
F6UGH1
resolver
uniprot
F6XIJ5
resolver
uniprot_entry
A0A7P0T8K3_HUMAN
resolver
uniprot_entry
ACER3_HUMAN
resolver
uniprot_entry
B7Z1R2_HUMAN
resolver
uniprot_entry
B7Z2Q2_HUMAN
resolver
uniprot_entry
B7Z2V2_HUMAN
resolver
uniprot_entry
F6UGH1_HUMAN
resolver
uniprot_entry
F6XIJ5_HUMAN
resolver
uniprot_sec
B2RC99
resolver
activity_regulation
ACTIVITY REGULATION: Activated by 5 mM Ca(2+) and inhibited by 5 mM Zn(2+). {ECO:0000269|PubMed:11356846}.
uniprot
proteins
amino_acid_sequence
MAPAADREGYWGPTTSTLDWCEENYSVTWYIAEFWNTVSNLIMIIPPMFGAVQSVRDGLEKRYIASYLALTVVGMGSWCFHMTLKYEMQLLDELPMIYSCCIFVYCMFECFKIKNSVNYHLLFTLVLFSLIVTTVYLKVKEPIFHQVMYGMLVFTLVLRSIYIVTWVYPWLRGLGYTSLGIFLLGFLFWNIDNIFCESLRNFRKKVPPIIGITTQFHAWWHILTGLGSYLHILFSLYTRTLYLRYRPKVKFLFGIWPVILFEPLRKH
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, progressive, early childhood-onset (PLDECO) [MIM:617762]: A form of leukodystrophy, a disorder of myelin production or maintenance affecting the central nervous system. PELCO features include neurological regression between 6 and 13 months of age, truncal hypotonia, appendicular spasticity, dystonia, optic disk pallor, peripheral neuropathy and neurogenic bladder. Brain imaging shows progressive diffuse abnormal white matter signals, cerebral atrophy, and thin corpus callosum. Sural nerve biopsy shows decreased myelination. PLDECO inheritance is autosomal recessive. {ECO:0000269|PubMed:26792856, ECO:0000269|PubMed:30575723}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.1.-
uniprot
proteins
ec_number
3.5.1.23
uniprot
proteins
function
FUNCTION: Endoplasmic reticulum and Golgi ceramidase that catalyzes the hydrolysis of unsaturated long-chain C18:1-, C20:1- and C20:4-ceramides, dihydroceramides and phytoceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:11356846, PubMed:20068046, PubMed:20207939, PubMed:26792856, PubMed:30575723). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:20068046). Controls the generation of sphingosine in erythrocytes, and thereby sphingosine-1-phosphate in plasma (PubMed:20207939). Through the regulation of ceramides and sphingosine-1-phosphate homeostasis in the brain may play a role in neurons survival and function (By similarity). By regulating the levels of pro-inflammatory ceramides in immune cells and tissues, may modulate the inflammatory response (By similarity). {ECO:0000250|UniProtKB:Q9D099, ECO:0000269|PubMed:11356846, ECO:0000269|PubMed:20068046, ECO:0000269|PubMed:20207939, ECO:0000269|PubMed:26792856, ECO:0000269|PubMed:30575723, ECO:0000303|PubMed:20068046}.
uniprot
proteins
mass_dalton
31552
uniprot
proteins
mutagenesis
MUTAGEN 19; /note="D->G: Mildly decreased enzyme activity."; /evidence="ECO:0000269|PubMed:30575723"; MUTAGEN 22; /note="E->G: Strongly decreased enzyme activity."; /evidence="ECO:0000269|PubMed:30575723"; MUTAGEN 24; /note="N->G: Strongly decreased enzyme activity."; /evidence="ECO:0000269|PubMed:30575723"; MUTAGEN 99; /note="S->A: No effect on enzyme activity."; /evidence="ECO:0000269|PubMed:30575723"; MUTAGEN 149; /note="Y->A: Decreased enzyme activity."; /evidence="ECO:0000269|PubMed:30575723"; MUTAGEN 228; /note="S->A: No effect on enzyme activity."; /evidence="ECO:0000269|PubMed:30575723
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; sphingolipid metabolism. {ECO:0000269|PubMed:20068046, ECO:0000269|PubMed:20207939, ECO:0000269|PubMed:30575723}.
uniprot
proteins
protein_family
Alkaline ceramidase family
uniprot
proteins
pubmed
11356846
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
20068046
uniprot
proteins
pubmed
20207939
uniprot
proteins
pubmed
26792856
uniprot
proteins
pubmed
30575723
uniprot
proteins
sequence_length
267
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11356846}; Multi-pass membrane protein {ECO:0000269|PubMed:11356846, ECO:0000269|PubMed:30575723}. Golgi apparatus membrane {ECO:0000269|PubMed:11356846}; Multi-pass membrane protein {ECO:0000269|PubMed:11356846, ECO:0000269|PubMed:30575723}.
uniprot
proteins
transmembrane_region
TRANSMEM 34..55; /note="Helical"; /evidence="ECO:0000269|PubMed:30575723"; TRANSMEM 62..82; /note="Helical"; /evidence="ECO:0000269|PubMed:30575723"; TRANSMEM 88..108; /note="Helical"; /evidence="ECO:0000269|PubMed:30575723"; TRANSMEM 119..139; /note="Helical"; /evidence="ECO:0000269|PubMed:30575723"; TRANSMEM 142..162; /note="Helical"; /evidence="ECO:0000269|PubMed:30575723"; TRANSMEM 174..194; /note="Helical"; /evidence="ECO:0000269|PubMed:30575723"; TRANSMEM 216..236; /note="Helical"; /evidence="ECO:0000269|PubMed:30575723
uniprot
proteins