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ACER3 (alkaline ceramidase 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55331
Gene nameGene Name - the full gene name approved by the HGNC.
Alkaline ceramidase 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ACER3
SynonymsGene synonyms aliases
APHC, PHCA, PLDECO
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.5
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 267
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Sphingolipid metabolism
Metabolic pathways
  Sphingolipid de novo biosynthesis
Associated diseases
Causal
Disease name Disease term 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, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Macrocephaly Relative macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease name Disease term dbSNP ID References
Cerebral atrophy Cerebral atrophy
Dwarfism Dwarfism
Hypoplasia of corpus callosum Hypoplasia of corpus callosum
Nervous system diseases Peripheral Nervous System Diseases

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