Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55331
Gene name Gene Name - the full gene name approved by the HGNC.
Alkaline ceramidase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACER3
Synonyms (NCBI Gene) Gene synonyms aliases
APHC, PHCA, PLDECO
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PLDECO
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.5
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs782709009 C>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant
rs1554988032 A>G Pathogenic 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT046140 hsa-miR-30b-5p CLASH 23622248
MIRT514753 hsa-miR-5692a HITS-CLIP 21572407
MIRT514751 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT514749 hsa-miR-142-5p HITS-CLIP 21572407
MIRT514748 hsa-miR-5590-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IDA 30575723
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0008270 Function Zinc ion binding IDA 30575723
GO:0008284 Process Positive regulation of cell population proliferation IMP 20068046
GO:0016021 Component Integral component of membrane IDA 30575723
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617036 16066 ENSG00000078124
Protein
UniProt ID Q9NUN7
Protein name Alkaline ceramidase 3 (AlkCDase 3) (Alkaline CDase 3) (EC 3.5.1.-) (EC 3.5.1.23) (Alkaline dihydroceramidase SB89) (Alkaline phytoceramidase) (aPHC)
Protein 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
PDB 6G7O , 6YXH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05875 Ceramidase 9 263 Ceramidase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in placenta (PubMed:11356846). Expressed in erythrocytes (PubMed:20207939). {ECO:0000269|PubMed:11356846, ECO:0000269|PubMed:20207939}.
Sequence
Sequence length 267
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Sphingolipid metabolism
Metabolic pathways
  Sphingolipid de novo biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alkaline ceramidase deficiency Alkaline ceramidase 3 deficiency rs782709009
Developmental regression Developmental regression rs1224421127
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604
View all (6 more)
Macrocephaly Relative macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease term Disease name Evidence References Source
Alkaline Ceramidase Deficiency alkaline ceramidase 3 deficiency GenCC
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 38297226
Carcinoma Hepatocellular Associate 35034572
Dystonia Associate 34281620
Farber Lipogranulomatosis Associate 26792856
Glioma Associate 34817752
Leukodystrophy Metachromatic Associate 26792856, 34281620
Leukoencephalopathies Associate 34281620
Mouth Neoplasms Stimulate 34092610
Muscle Spasticity Associate 34281620