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ACER3 Gene(Protein Coding)

Alkaline Ceramidase 3

GCID:
GC11P076860
GIFtS:
54
Genes Participants
UDN Logo

Aliases for ACER3 Gene

Aliases for ACER3 Gene

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

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 Farber Lipogranulomatosis and Partial Fetal Alcohol Syndrome. Among its related pathways are Sphingolipid metabolism and Metabolism. GO annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides and phytoceramidase activity.

UniProtKB/Swiss-Prot for ACER3 Gene

  • Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity.

Gene Wiki entry for ACER3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACER3 Gene

Genomics for ACER3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ACER3 Gene

Enhancers for ACER3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G076823 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.9 -36.1 -36077 3.1 HDGF PKNOX1 ATF1 CREB3L1 ARNT TCF12 ZNF766 GATA2 ZNF548 FOS ACER3 B3GNT6 GDPD4 ENSG00000261578
GH11G076919 1.1 Ensembl ENCODE 27 +59.4 59440 1.7 ELF3 RB1 SIN3A RAD21 RFX5 GATA2 ZNF143 DEK ZNF654 NFYA ACER3 ENSG00000254988
GH11G076806 1.4 Ensembl ENCODE dbSUPER 17.9 -53.3 -53315 1.1 YBX3 HDGF ATF1 CBX3 RB1 SIN3A YBX1 NFXL1 ZNF48 RAD21 ACER3 LOC101928837 TSKU ENSG00000255363 B3GNT6 ENSG00000261578
GH11G076962 1.2 FANTOM5 ENCODE 15 +102.2 102229 2.1 FOXA2 ATF1 MLX ARID4B GLI4 ZNF143 SP5 PPARG TBX21 KAT8 ACER3 ENSG00000254988 B3GNT6
GH11G076860 1.1 ENCODE 15.2 +0.5 453 2.5 HDGF PKNOX1 CREB3L1 SIN3A ZNF2 YY1 ZNF143 ZNF207 ZNF263 SP3 ACER3 ENSG00000271757 ENSG00000255135 RSF1 ENSG00000272301 LOC100506127 THAP12 ENSG00000254988
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACER3 on UCSC Golden Path with GeneCards custom track

Promoters for ACER3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000042375 133 1201 HDGF PKNOX1 CREB3L1 SIN3A ZNF2 YY1 ZNF143 ZNF207 ZNF263 SP3

Transcription factor binding sites by QIAGEN in the ACER3 gene promoter:

Genomic Location for ACER3 Gene

Chromosome:
11
Start:
76,860,867 bp from pter
End:
77,026,797 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for ACER3 Gene

Proteins for ACER3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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
    Quaternary structure:
    No Data Available

    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

Other Protein References for ACER3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACER3 Gene

Domains & Families for ACER3 Gene

Gene Families for ACER3 Gene

HGNC:

Protein Domains for ACER3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACER3 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ACER3 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by Ca(2+) and inhibited by Zn(2+).
UniProtKB/Swiss-Prot Function:
Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity.

Enzyme Numbers (IUBMB) for ACER3 Gene

Gene Ontology (GO) - Molecular Function for ACER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA --
GO:0070774 phytoceramidase activity TAS --
genes like me logo Genes that share ontologies with ACER3: view

Phenotypes for ACER3 Gene

GenomeRNAi human phenotypes for ACER3:
genes like me logo Genes that share phenotypes with ACER3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ACER3

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , 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 3
lysosome 3

Gene Ontology (GO) - Cellular Components for ACER3 Gene

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

Pathways & Interactions for ACER3 Gene

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

Pathways by source for ACER3 Gene

1 KEGG pathway for ACER3 Gene

Interacting Proteins for ACER3 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000434480%0d%0a9606.ENSP00000307126%0d%0a9606.ENSP00000360296%0d%0a9606.ENSP00000316476%0d%0a9606.ENSP00000329697%0d%0a9606.ENSP00000385083%0d%0a
Selected Interacting proteins: Q9NUN7-ACER3_HUMAN ENSP00000434480 for ACER3 Gene via IID STRING

Gene Ontology (GO) - Biological Process for ACER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process IEA --
GO:0008284 positive regulation of cell proliferation IMP 20068046
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0046512 sphingosine biosynthetic process IDA 20068046
GO:0071602 phytosphingosine biosynthetic process IDA 11356846
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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ACER3 Gene

(9) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(173) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACER3 Gene

Alkaline ceramidase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
ACER3

Expression for ACER3 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for ACER3 Gene
mRNA expression by BioGPS for ACER3 GenemRNA expression by GTEx for ACER3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of ACER3 Gene:

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. Highest expression in placenta.

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

Primer Products

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 34 35
  • 99.63 (n)
dog
(Canis familiaris)
 Mammalia ACER3 34 35
  • 94.26 (n)
cow
(Bos Taurus)
 Mammalia ACER3 34 35
  • 92.88 (n)
mouse
(Mus musculus)
 Mammalia Acer3 34 16 35
  • 88.51 (n)
rat
(Rattus norvegicus)
 Mammalia Acer3 34
  • 87.77 (n)
oppossum
(Monodelphis domestica)
 Mammalia ACER3 35
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ACER3 35
  • 69 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ACER3 34 35
  • 76.94 (n)
lizard
(Anolis carolinensis)
 Reptilia ACER3 35
  • 75 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia acer3 34
  • 71.3 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.32071 34
zebrafish
(Danio rerio)
 Actinopterygii acer3 35
  • 68 (a)
 OneToOne
LOC555411 34
  • 66.42 (n)
Dr.27687 34
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YDC1 34 35 37
  • 49.65 (n)
YPC1 35
  • 28 (a)
 OneToMany
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E23981g 34
  • 48.72 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons ATCES1 34
  • 45.13 (n)
rice
(Oryza sativa)
 Liliopsida Os03g0698900 34
  • 44.81 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU02969 34
  • 51.93 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 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)

Paralogs for ACER3 Gene

No data available for Paralogs for ACER3 Gene

Variants for ACER3 Gene

Sequence variations from dbSNP and Humsavar for ACER3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000001432 -- 76,891,819(+) GTGCT(A/T)ATGAT intron-variant
rs1000010130 -- 76,912,673(+) TGGAG(A/G)CAGCG intron-variant
rs1000011843 -- 76,863,736(+) ACTTC(A/G)TATAT intron-variant
rs1000099929 -- 76,921,717(+) GGATT(C/T)TTATT intron-variant
rs1000150771 -- 76,872,203(+) TCCCA(A/G)GTAGC intron-variant

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)

Relevant External Links for ACER3 Gene

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

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

Disorders for ACER3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ACER3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
farber lipogranulomatosis
  • acid ceramidase deficiency
partial fetal alcohol syndrome
corneal dystrophy, posterior amorphous
  • posterior amorphous corneal dystrophy
lipogranulomatosis
  • erdheim-chester disease
hypopharynx cancer
  • hypopharyngeal cancer
- elite association - COSMIC cancer census association via MalaCards
Search ACER3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACER3

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

No data available for UniProtKB/Swiss-Prot and 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 L.M. (J. Biol. Chem. 2001) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3 46 64
  5. Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate. (PMID: 18619555) Mao C. … Obeid L.M. (Biochim. Biophys. Acta 2008) 2 3 64

Products for ACER3 Gene

Sources for ACER3 Gene

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