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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 partial fetal alcohol syndrome and posterior amorphous corneal dystrophy. Among its related pathways are Metabolism and Sphingolipid 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACER3 Gene

Genomics for ACER3 Gene

Regulatory Elements for ACER3 Gene

Promoters for ACER3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACER3 on UCSC Golden Path with GeneCards custom track

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 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
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ACER3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACER3 Gene

Proteomics data for ACER3 Gene at MOPED

Post-translational modifications for ACER3 Gene

  • Glycosylation at Asn 24
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACER3 Gene

Domains & Families for ACER3 Gene

Gene Families for ACER3 Gene

Protein Domains for ACER3 Gene

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 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

Phenotypes for ACER3 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for ACER3

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ACER3 Gene COMPARTMENTS Subcellular localization image for ACER3 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
lysosome 3
plasma membrane 3
vacuole 3
extracellular 1

Gene Ontology (GO) - Cellular Components for ACER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030176 integral component of endoplasmic reticulum membrane IDA 11356846
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

Gene Ontology (GO) - Biological Process for ACER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process IEA --
GO:0030148 sphingolipid biosynthetic process TAS --
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

(1) Drugs for ACER3 Gene - From: HMDB

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

(2) 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
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ACER3: view

Transcripts for ACER3 Gene

Unigene Clusters for ACER3 Gene

Alkaline ceramidase 3:
Representative Sequences:

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

mRNA expression in normal human tissues for ACER3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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.
genes like me logo Genes that share expression patterns with ACER3: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia ACER3 35
  • 92.88 (n)
  • 94.38 (a)
ACER3 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACER3 35
  • 94.26 (n)
  • 96.25 (a)
ACER3 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acer3 35
  • 88.51 (n)
  • 88.39 (a)
Acer3 36
  • 88 (a)
OneToOne
Acer3 16
chimpanzee
(Pan troglodytes)
Mammalia ACER3 35
  • 99.63 (n)
  • 99.63 (a)
ACER3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acer3 35
  • 87.77 (n)
  • 88.01 (a)
oppossum
(Monodelphis domestica)
Mammalia ACER3 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACER3 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACER3 35
  • 76.94 (n)
  • 74.44 (a)
ACER3 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACER3 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acer3 35
  • 71.3 (n)
  • 76.69 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32071 35
zebrafish
(Danio rerio)
Actinopterygii Dr.27687 35
LOC555411 35
  • 66.42 (n)
  • 67.67 (a)
acer3 36
  • 68 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23981g 35
  • 48.72 (n)
  • 37.61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YDC1 35
  • 49.65 (n)
  • 38.4 (a)
YDC1 36
  • 29 (a)
OneToMany
YPC1 36
  • 28 (a)
OneToMany
YDC1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ATCES1 35
  • 45.13 (n)
  • 30.86 (a)
rice
(Oryza sativa)
Liliopsida Os03g0698900 35
  • 44.81 (n)
  • 32.38 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02969 35
  • 51.93 (n)
  • 44.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for ACER3:
  • 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
rs2826 -- 77,022,803(+) CTCTA(C/T)AGCAA utr-variant-3-prime
rs486064 -- 76,989,504(+) AGAAA(A/G)GGCTT intron-variant
rs486791 -- 76,989,533(+) GGAGT(G/T)GAATC intron-variant
rs482566 -- 76,888,002(-) catct(C/T)tacag intron-variant
rs504598 -- 77,019,346(-) GAGTA(C/G)CTGGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv518920 CNV Loss 19592680
nsv519309 CNV Loss 19592680
nsv519700 CNV Gain+Loss 19592680
esv1509546 CNV Insertion 17803354
nsv396 CNV Loss 18451855
esv2661671 CNV Deletion 23128226
nsv498761 CNV Loss 21111241
esv23557 CNV Loss 19812545
nsv507599 CNV Insertion 20534489

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

HapMap Linkage Disequilibrium report
ACER3

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

Disorders for ACER3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACER3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
partial fetal alcohol syndrome
posterior amorphous corneal dystrophy
  • pacd
farber lipogranulomatosis
  • acid ceramidase deficiency
- 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 23 67
  2. 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
  3. Alkaline ceramidase 3 (ACER3) hydrolyzes unsaturated long-chain ceramides, and its down-regulation inhibits both cell proliferation and apoptosis. (PMID: 20068046) Hu W. … Mao C. (J. Biol. Chem. 2010) 3
  4. 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
  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 S.D. … Anand S. (Diabetes Care 2010) 3

Products for ACER3 Gene

Sources for ACER3 Gene

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