Gene Gene information from NCBI Gene database.
Entrez ID 55331
Gene name Alkaline ceramidase 3
Gene symbol ACER3
Synonyms (NCBI Gene)
APHCPHCAPLDECO
Chromosome 11
Chromosome location 11q13.5
SNPs SNP information provided by dbSNP.
2
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.
558
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 11356846
GO:0000139 Component Golgi membrane IEA
GO:0005509 Function Calcium ion binding IDA 30575723
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617036 16066 ENSG00000078124
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ACER3-related disorder Pathogenic rs1440353274 RCV003410543
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alkaline ceramidase 3 deficiency Pathogenic; Likely pathogenic rs782673196, rs782709009, rs782329790, rs1949342923 RCV003388177
RCV000662224
RCV001193350
RCV001291525
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast Pathogenic rs1440353274 RCV005932792
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alkaline ceramidase 3 deficiency Alkaline Ceramidase Deficiency Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Asthma Asthma Pubtator 38297226 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35034572 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Developmental regression Developmental regression HPO_DG
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism HPO_DG
★☆☆☆☆
Found in Text Mining only
Dystonia Dystonia Pubtator 34281620 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 34817752 Associate
★☆☆☆☆
Found in Text Mining only
Hypoplasia of corpus callosum Hypoplasia Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation HPO_DG
★☆☆☆☆
Found in Text Mining only