Aliases for ACER3 Gene
Aliases for ACER3 Gene
External Ids for ACER3 Gene
- HGNC: 16066
- Entrez Gene: 55331
- Ensembl: ENSG00000078124
- OMIM: 617036
- UniProtKB: Q9NUN7
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 Farber Lipogranulomatosis. Among its related pathways are Metabolism and Sphingolipid 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.
UniProtKB/Swiss-Prot for ACER3 Gene
-
Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity.
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
GeneHancer (GH) Regulatory Elements 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH11I076860 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 565.2 | +0.5 | 452 | 2.5 | HDGF PKNOX1 SIN3A ZNF2 YY1 ZNF213 ZNF207 ZNF143 SP3 SP5 | ACER3 EMSY ENSG00000271757 RSF1 ENSG00000272301 GVQW3 ENSG00000255135 THAP12 ENSG00000254988 | |
GH11I076864 | Promoter | 0.5 | EPDnew | 550.8 | +4.0 | 4034 | 0.1 | ACER3 ENSG00000254988 | ||
GH11I076859 | Enhancer | 0.2 | Ensembl | 557 | -1.8 | -1766 | 0.2 | ACER3 ENSG00000254988 ENSG00000261578 | ||
GH11I076823 | Enhancer | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 17.9 | -36.1 | -36077 | 3.1 | HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ZNF548 FOS ATF7 | EMSY ACER3 B3GNT6 GDPD4 ENSG00000261578 | |
GH11I076919 | Enhancer | 1 | Ensembl ENCODE | 27 | +59.4 | 59440 | 1.7 | ELF3 RB1 SIN3A RAD21 RFX5 NCOA2 ARID2 ZNF143 ATF7 DEK | ACER3 ENSG00000254988 |
Regulatory Element Products
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)
Genomic View for ACER3 Gene
- Cytogenetic band:
-
- 11q13.5 by Ensembl
- 11q13.5 by Entrez Gene
- 11q13.5 by HGNC


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
- B2RC99
Protein attributes for ACER3 Gene
- Size:
- 267 amino acids
- Molecular mass:
- 31552 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for ACER3 Gene
- Glycosylation at posLast=2424
Other Protein References for ACER3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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Protein Products
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Assay Products
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Quality Products:
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACER3 Gene
Graphical View of Domain Structure for InterPro Entry
Q9NUN7- Family:
-
- Belongs to the alkaline ceramidase family.
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 From GWAS Catalog 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 | -- |
Phenotypes for ACER3 Gene
- GenomeRNAi human phenotypes for ACER3:
Animal Model Products
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-
-
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-
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-
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-
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miRNA for ACER3 Gene
- miRTarBase miRNAs that target ACER3
-
- hsa-mir-30b-5p (MIRT046140)
- hsa-mir-190a-3p (MIRT514744)
- hsa-mir-5011-5p (MIRT514745)
- hsa-mir-340-5p (MIRT514746)
- hsa-mir-410-3p (MIRT514747)
- hsa-mir-5590-3p (MIRT514748)
- hsa-mir-142-5p (MIRT514749)
- hsa-mir-3163 (MIRT514750)
- hsa-mir-1277-5p (MIRT514751)
- hsa-mir-6507-5p (MIRT514752)
- hsa-mir-5692a (MIRT514753)
- hsa-mir-186-5p (MIRT514754)
- hsa-mir-3133 (MIRT514755)
- hsa-mir-2681-5p (MIRT660940)
- hsa-mir-4768-5p (MIRT660941)
- hsa-mir-6833-3p (MIRT660942)
- hsa-mir-580-3p (MIRT660943)
- hsa-mir-4724-3p (MIRT660944)
- hsa-mir-6782-3p (MIRT660945)
- hsa-mir-130b-5p (MIRT660946)
- hsa-mir-1250-3p (MIRT783204)
- hsa-mir-1301-3p (MIRT783656)
- hsa-mir-145-3p (MIRT783839)
- hsa-mir-153-5p (MIRT783893)
- hsa-mir-335-3p (MIRT784872)
- hsa-mir-3680-3p (MIRT785212)
- hsa-mir-450b-5p (MIRT786054)
- hsa-mir-4660 (MIRT786335)
- hsa-mir-5047 (MIRT787030)
- hsa-mir-507 (MIRT787036)
- hsa-mir-557 (MIRT787645)
- hsa-mir-5696 (MIRT787799)
- hsa-mir-579-3p (MIRT787910)
- hsa-mir-6516-5p (MIRT788374)
- hsa-mir-664b-3p (MIRT788431)
- hsa-mir-7156-3p (MIRT789443)
miRNA Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for ACER3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ACER3
-
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-
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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.
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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACER3 Gene
Pathways & Interactions for ACER3 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sphingolipid metabolism | ||
2 | Metabolism |
.37
|
Pathways by source for ACER3 Gene
4 Reactome pathways for ACER3 Gene
1 KEGG pathway for ACER3 Gene
Interacting Proteins 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 |
No data available for SIGNOR curated interactions for ACER3 Gene
Transcripts for ACER3 Gene
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 :
CRISPR Products
-
OriGene CRISPR knockouts for ACER3
- genomics-online: gRNA clones - Search results for 88 available ACER3 gene related products
- Overview of 88 available ACER3 gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACER3
- GenScript: Design CRISPR guide RNA sequences for ACER3
miRNA Products
- Search ViGene Biosciences for ACER3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ACER3
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- genomics-online: shRNA clones - Search results for 88 available ACER3 gene related products
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ViGene Biosciences ready-to-package AAV shRNAs for ACER3 gene
Clone Products
- Sino Biological Human cDNA Clone for ACER3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ACER3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACER3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for ACER3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||
SP4: | - | - | - | - |
Expression for ACER3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Testis (Reproductive System)
NURSA nuclear receptor signaling pathways regulating expression of ACER3 Gene:
ACER3SOURCE GeneReport for Unigene cluster for ACER3 Gene:
Hs.23862mRNA Expression by UniProt/SwissProt for ACER3 Gene:
Q9NUN7-ACER3_HUMANEvidence on tissue expression from TISSUES for ACER3 Gene
- Nervous system(4.6)
- Kidney(4.2)
- Eye(4)
Primer Products
-
OriGene qPCR primer pairs for ACER3
-
OriGene qPCR primer pairs and template standards for ACER3
- genomics-online: primer clones - Search results for 88 available ACER3 gene related products
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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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ACER3 34 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | ACER3 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | ACER3 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Acer3 16 34 33 |
|
||
rat (Rattus norvegicus) |
Mammalia | Acer3 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | ACER3 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | ACER3 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ACER3 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | ACER3 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | acer3 33 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32071 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | acer3 34 |
|
OneToOne | |
LOC555411 33 |
|
||||
Dr.27687 33 |
|
||||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YDC1 33 34 36 |
|
||
YPC1 34 |
|
OneToMany | |||
K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E23981g 33 |
|
||
thale cress (Arabidopsis thaliana) |
eudicotyledons | ATCES1 33 |
|
||
rice (Oryza sativa) |
Liliopsida | Os03g0698900 33 |
|
||
bread mold (Neurospora crassa) |
Ascomycetes | NCU02969 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for ACER3 Gene
No data available for Paralogs for ACER3 Gene
Variants for ACER3 Gene
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000001432 | -- | 76,891,819(+) | A/T | genic_upstream_transcript_variant, intron_variant | |
rs1000010130 | -- | 76,912,673(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
rs1000011843 | -- | 76,863,736(+) | A/G | genic_upstream_transcript_variant, intron_variant | |
rs1000099929 | -- | 76,921,717(+) | T/C | intron_variant | |
rs1000150771 | -- | 76,872,203(+) | A/G | genic_upstream_transcript_variant, intron_variant |
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 |
Additional Variant Information for ACER3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACER3 Gene
Disorders for ACER3 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
leukodystrophy, progressive, early childhood-onset |
|
|
farber lipogranulomatosis |
|
|
partial fetal alcohol syndrome |
|
|
corneal dystrophy, posterior amorphous |
|
|
Additional Disease Information for ACER3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for ACER3 Gene
Publications for ACER3 Gene
- 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 22 58
- 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 44 58
- 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 44 58
- Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 44 58
- Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate. (PMID: 18619555) Mao C … Obeid LM (Biochimica et biophysica acta 2008) 2 3 58
Products for ACER3 Gene
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- VectorBuilder custom plasmid, inducible vectors for ACER3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACER3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available ACER3 related products ranked by validation data
- antibodies-online: Search results for 2 available ACER3 Elisa Kits ranked by validation data
- Compare Top ACER3 Elisa Kits
- Quality Products:
- antibodies-online: Search results for available ACER3 related products ranked by validation data
- Search GeneTex for Antibodies for ACER3
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- ViGene Biosciences adenoviral particle packaged cDNA for ACER3 gene
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Sources for ACER3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
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