Aliases for ACER3 Gene

Aliases for ACER3 Gene

  • Alkaline Ceramidase 3 2 3 4 5
  • Alkaline Phytoceramidase 2 3 4
  • APHC 3 4 4
  • Alkaline Dihydroceramidase SB89 3 4
  • Phytoceramidase, Alkaline 2 3
  • Alkaline CDase 3 3 4
  • AlkCDase 3 3 4
  • PHCA 3 4
  • EC 3.5.1.23 4
  • EC 3.5.1.- 4
  • PLDECO 3

External Ids for ACER3 Gene

Previous HGNC Symbols for ACER3 Gene

  • PHCA

Previous GeneCards Identifiers for ACER3 Gene

  • GC11P076250
  • GC11P076571
  • GC11P072869

Summaries for ACER3 Gene

GeneCards Summary for ACER3 Gene

ACER3 (Alkaline Ceramidase 3) is a Protein Coding gene. Diseases associated with ACER3 include Leukodystrophy, Progressive, Early Childhood-Onset and Neurogenic Bladder. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides and phytoceramidase activity. An important paralog of this gene is ACER2.

UniProtKB/Swiss-Prot Summary for ACER3 Gene

  • 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:20068046, PubMed:26792856, PubMed:20207939, PubMed:11356846, 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 proinflammatory ceramides in immune cells and tissues, may modulate the inflammatory response (By similarity).

Gene Wiki entry for ACER3 Gene

Additional gene information for ACER3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACER3 Gene

Genomics for ACER3 Gene

GeneHancer (GH) Regulatory Elements for ACER3 Gene

Promoters and enhancers for ACER3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J076860 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 515.1 +0.6 558 2.8 ZNF217 CTCF SIN3A POLR2G SP1 GTF2E2 PHF8 TEAD4 ZFX ZNF354C ACER3 EMSY RSF1 GVQW3 ENSG00000255135 THAP12 ENSG00000254988 piR-43106-038
GH11J076889 Enhancer 0.9 Ensembl ENCODE 26.9 +28.5 28534 2 TRIM28 CTBP1 OSR2 NCOR1 CEBPB ZNF316 FOSL1 EHMT2 TAL1 HDAC2 ACER3 ENSG00000254988 B3GNT6 piR-43106-038
GH11J076823 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 17.9 -36.1 -36077 3.1 TCF12 BCLAF1 ZBTB5 ZIC2 POLR2A AFF1 TRIM28 HES1 TOE1 MYC lnc-LRRC32-7 ACER3 B3GNT6 GDPD4 piR-31210-009
GH11J076919 Enhancer 0.8 ENCODE 27 +59.4 59440 1.7 ZNF217 CTCF REST CUX1 MYC RAD21 TRIM22 ZNF830 SMC3 DEK ACER3 ENSG00000254988 piR-56759-092 FJ601684-064
GH11J077034 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10.8 +174.9 174901 3.2 ZNF217 NCOR1 TCF7 FOXA1 SKI TEAD1 ATF2 TBX3 ZKSCAN8 CTBP1 B3GNT6 OMP MYO7A ACER3 CAPN5 lnc-B3GNT6-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACER3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACER3

Top Transcription factor binding sites by QIAGEN in the ACER3 gene promoter:
  • c-Myb
  • C/EBPalpha
  • Evi-1
  • Pax-3
  • Pax-6
  • RORalpha1
  • STAT1
  • YY1
  • ZIC2

Genomic Locations for ACER3 Gene

Genomic Locations for ACER3 Gene
chr11:76,860,867-77,026,797
(GRCh38/hg38)
Size:
165,931 bases
Orientation:
Plus strand
chr11:76,571,911-76,737,841
(GRCh37/hg19)
Size:
165,931 bases
Orientation:
Plus strand

Genomic View for ACER3 Gene

Genes around ACER3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACER3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACER3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACER3 Gene

Proteins for ACER3 Gene

  • Protein details for ACER3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUN7-ACER3_HUMAN
    Recommended name:
    Alkaline ceramidase 3
    Protein Accession:
    Q9NUN7
    Secondary Accessions:
    • B2RC99

    Protein attributes for ACER3 Gene

    Size:
    267 amino acids
    Molecular mass:
    31552 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ACER3 Gene

    Alternative splice isoforms for ACER3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACER3 Gene

Post-translational modifications for ACER3 Gene

  • Glycosylation at Asn24
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACER3 Gene

Domains & Families for ACER3 Gene

Gene Families for ACER3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ACER3 Gene

Blocks:
  • Alkaline phytoceramidase
  • Ribosomal protein S19/S15
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACER3 Gene

GenScript: Design optimal peptide antigens:
  • Alkaline phytoceramidase (ACER3_HUMAN)
  • cDNA FLJ50957, highly similar to Alkaline phytoceramidase (EC 3.5.1.-) (B7Z2Q2_HUMAN)
  • cDNA, FLJ79019, highly similar to Alkaline phytoceramidase (EC 3.5.1.-) (B7Z2V2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NUN7

UniProtKB/Swiss-Prot:

ACER3_HUMAN :
  • Belongs to the alkaline ceramidase family.
Family:
  • Belongs to the alkaline ceramidase family.
genes like me logo Genes that share domains with ACER3: view

Function for ACER3 Gene

Molecular function for ACER3 Gene

UniProtKB/Swiss-Prot 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:20068046, PubMed:26792856, PubMed:20207939, PubMed:11356846, 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 proinflammatory ceramides in immune cells and tissues, may modulate the inflammatory response (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acyl-(4R)-4-hydroxysphinganine + H2O = 4-hydroxysphinganine + a fatty acid; Xref=Rhea:RHEA:33555, ChEBI:CHEBI:15377, ChEBI:CHEBI:28868, ChEBI:CHEBI:31998, ChEBI:CHEBI:64124; Evidence={ECO:0000269 PubMed:11356846, ECO:0000269 PubMed:20068046}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33556; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sphing-4-enine = (5Z,8Z,11Z,14Z)-eicosatetraenoate + sphing-4-enine; Xref=Rhea:RHEA:45348, ChEBI:CHEBI:15377, ChEBI:CHEBI:32395, ChEBI:CHEBI:57756, ChEBI:CHEBI:85198; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45349; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sphinganine = (5Z,8Z,11Z,14Z)-eicosatetraenoate + sphinganine; Xref=Rhea:RHEA:45376, ChEBI:CHEBI:15377, ChEBI:CHEBI:32395, ChEBI:CHEBI:57817, ChEBI:CHEBI:85206; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45377; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-4-hydroxysphinganine = (5Z,8Z,11Z,14Z)-eicosatetraenoate + 4-hydroxysphinganine; Xref=Rhea:RHEA:45380, ChEBI:CHEBI:15377, ChEBI:CHEBI:32395, ChEBI:CHEBI:64124, ChEBI:CHEBI:85207; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45381; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(11Z-eicosenoyl)-sphing-4-enine = (11Z)-eicosenoate + sphing-4-enine; Xref=Rhea:RHEA:45356, ChEBI:CHEBI:15377, ChEBI:CHEBI:32426, ChEBI:CHEBI:57756, ChEBI:CHEBI:85284; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45357; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(11Z-eicosenoyl)-sphinganine = (11Z)-eicosenoate + sphinganine; Xref=Rhea:RHEA:45360, ChEBI:CHEBI:15377, ChEBI:CHEBI:32426, ChEBI:CHEBI:57817, ChEBI:CHEBI:85285; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45361; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(11Z-eicosenoyl)-4-hydroxysphinganine = (11Z)-eicosenoate + 4-hydroxysphinganine; Xref=Rhea:RHEA:45364, ChEBI:CHEBI:15377, ChEBI:CHEBI:32426, ChEBI:CHEBI:64124, ChEBI:CHEBI:85286; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45365; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(9Z-octadecenoyl)-sphing-4-enine = (9Z)-octadecenoate + sphing-4-enine; Xref=Rhea:RHEA:41299, ChEBI:CHEBI:15377, ChEBI:CHEBI:30823, ChEBI:CHEBI:57756, ChEBI:CHEBI:77996; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41300; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(9Z-octadecenoyl)-sphinganine = (9Z)-octadecenoate + sphinganine; Xref=Rhea:RHEA:45372, ChEBI:CHEBI:15377, ChEBI:CHEBI:30823, ChEBI:CHEBI:57817, ChEBI:CHEBI:74100; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45373; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(9Z-octadecenoyl)-4-hydroxysphinganine = (9Z)-octadecenoate + 4-hydroxysphinganine; Xref=Rhea:RHEA:45368, ChEBI:CHEBI:15377, ChEBI:CHEBI:30823, ChEBI:CHEBI:64124, ChEBI:CHEBI:85204; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45369; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine; Xref=Rhea:RHEA:20856, ChEBI:CHEBI:15377, ChEBI:CHEBI:28868, ChEBI:CHEBI:52639, ChEBI:CHEBI:57756; EC=3.5.1.23; Evidence={ECO:0000269 PubMed:20068046, ECO:0000269 PubMed:20207939, ECO:0000269 PubMed:26792856}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:20857; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acylsphinganine + H2O = a fatty acid + sphinganine; Xref=Rhea:RHEA:33551, ChEBI:CHEBI:15377, ChEBI:CHEBI:28868, ChEBI:CHEBI:31488, ChEBI:CHEBI:57817; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33552; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by 5 mM Ca(2+) and inhibited by 5 mM Zn(2+).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 9.5. {ECO:0000269 PubMed:11356846};

Enzyme Numbers (IUBMB) for ACER3 Gene

Phenotypes From GWAS Catalog for ACER3 Gene

Gene Ontology (GO) - Molecular Function for ACER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 30575723
GO:0008270 zinc ion binding IDA 30575723
GO:0016787 hydrolase activity IEA --
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA --
GO:0017040 N-acylsphingosine amidohydrolase activity IMP 20207939
genes like me logo Genes that share ontologies with ACER3: view
genes like me logo Genes that share phenotypes with ACER3: view

Human Phenotype Ontology for ACER3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACER3 Gene

Localization for ACER3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACER3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACER3 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
lysosome 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ACER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 30575723
genes like me logo Genes that share ontologies with ACER3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACER3 Gene

Pathways & Interactions for ACER3 Gene

genes like me logo Genes that share pathways with ACER3: view

Pathways by source for ACER3 Gene

UniProtKB/Swiss-Prot Q9NUN7-ACER3_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for ACER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006672 ceramide metabolic process IEA --
GO:0006954 inflammatory response IEA --
GO:0008284 positive regulation of cell proliferation IMP 20068046
genes like me logo Genes that share ontologies with ACER3: view

No data available for SIGNOR curated interactions for ACER3 Gene

Drugs & Compounds for ACER3 Gene

(2) Drugs for ACER3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
sphinganine Pharma 0

(1) Additional Compounds for ACER3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydroceramide
  • N-Acylsphinganine
  • N-[(2S,3R)-1,3-Dihydroxyoctadecan-2-yl]formamide
genes like me logo Genes that share compounds with ACER3: view

Transcripts for ACER3 Gene

mRNA/cDNA for ACER3 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACER3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - - -

Relevant External Links for ACER3 Gene

GeneLoc Exon Structure for
ACER3

Expression for ACER3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACER3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACER3

SOURCE GeneReport for Unigene cluster for ACER3 Gene:

Hs.23862

mRNA Expression by UniProt/SwissProt for ACER3 Gene:

Q9NUN7-ACER3_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in placenta (PubMed:11356846). Expressed in erythrocytes (PubMed:20207939).

Evidence on tissue expression from TISSUES for ACER3 Gene

  • Nervous system(4.6)
  • Kidney(4.2)
  • Eye(4)
genes like me logo Genes that share expression patterns with ACER3: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACER3 Gene

Orthologs for ACER3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACER3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACER3 31 30
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACER3 31 30
  • 94.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACER3 31 30
  • 92.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acer3 17 31 30
  • 88.51 (n)
rat
(Rattus norvegicus)
Mammalia Acer3 30
  • 87.77 (n)
oppossum
(Monodelphis domestica)
Mammalia ACER3 31
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACER3 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACER3 31 30
  • 76.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACER3 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acer3 30
  • 71.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32071 30
zebrafish
(Danio rerio)
Actinopterygii acer3 31
  • 68 (a)
OneToOne
LOC555411 30
  • 66.42 (n)
Dr.27687 30
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDC1 33 31 30
  • 49.65 (n)
YPC1 31
  • 28 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23981g 30
  • 48.72 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATCES1 30
  • 45.13 (n)
rice
(Oryza sativa)
Liliopsida Os03g0698900 30
  • 44.81 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02969 30
  • 51.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToOne
Species where no ortholog for ACER3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ACER3 Gene

ENSEMBL:
Gene Tree for ACER3 (if available)
TreeFam:
Gene Tree for ACER3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACER3: view image

Paralogs for ACER3 Gene

Paralogs for ACER3 Gene

genes like me logo Genes that share paralogs with ACER3: view

Variants for ACER3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACER3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1554988032 Pathogenic: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET. Leukodystrophy, progressive, early childhood-onset (PLDECO) [MIM:617762] 76,861,074(+) A/Gp.Glu33Gly MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs782709009 Pathogenic: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET 77,016,682(+) C/T NONSENSE

Additional dbSNP identifiers (rs#s) for ACER3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACER3 Gene

Variant ID Type Subtype PubMed ID
dgv1229n100 CNV loss 25217958
esv1509546 CNV insertion 17803354
esv23557 CNV loss 19812545
esv2661671 CNV deletion 23128226
esv3626878 CNV loss 21293372
nsv1119894 CNV deletion 24896259
nsv396 CNV deletion 18451855
nsv498761 CNV loss 21111241
nsv507599 OTHER sequence alteration 20534489
nsv518920 CNV loss 19592680
nsv519309 CNV loss 19592680
nsv519700 CNV gain+loss 19592680
nsv555449 CNV loss 21841781

Variation tolerance for ACER3 Gene

Residual Variation Intolerance Score: 48.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACER3 Gene

Human Gene Mutation Database (HGMD)
ACER3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACER3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACER3 Gene

Disorders for ACER3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ACER3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, progressive, early childhood-onset
  • pldeco
neurogenic bladder
  • neurogenic dysfunction of the urinary bladder
leukodystrophy
  • leukodystrophies
partial fetal alcohol syndrome
farber lipogranulomatosis
  • frbrl
- elite association - COSMIC cancer census association via MalaCards
Search ACER3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACER3_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for ACER3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACER3: view

No data available for Genatlas for ACER3 Gene

Publications for ACER3 Gene

  1. Cloning and characterization of a novel human alkaline ceramidase. A mammalian enzyme that hydrolyzes phytoceramide. (PMID: 11356846) Mao C … Obeid LM (The Journal of biological chemistry 2001) 2 3 4 23 54
  2. Structure of a human intramembrane ceramidase explains enzymatic dysfunction found in leukodystrophy. (PMID: 30575723) Vasiliauskaité-Brooks I … Granier S (Nature communications 2018) 3 4 54
  3. Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy. (PMID: 26792856) Edvardson S … Elpeleg O (Journal of medical genetics 2016) 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54

Products for ACER3 Gene

  • Boster Bio Antibodies for ACER3
  • Boster Bio ELISA Kits for ACER3

Sources for ACER3 Gene