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ACER3 Gene

protein-coding   GIFtS: 57
GCID: GC11P076571

Alkaline Ceramidase 3

(Previous names: phytoceramidase, alkaline)
(Previous symbol: PHCA)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Alkaline Ceramidase 31 2     Alkaline Dihydroceramidase SB892 3
PHCA1 2 3     AlkCDase 32 3
Alkaline Phytoceramidase1 2 3     APHC2 3
Phytoceramidase, Alkaline1 2     EC 3.5.1.-3
Alkaline CDase 32 3     aPHC3

External Ids:    HGNC: 160661   Entrez Gene: 553312   Ensembl: ENSG000000781247   UniProtKB: Q9NUN73   

Export aliases for ACER3 gene to outside databases

Previous GC identifers: GC11P076250 GC11P072869


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ACER3 Gene:
ACER3 (alkaline ceramidase 3) is a protein-coding gene. Diseases associated with ACER3 include partial fetal alcohol syndrome, and lipogranulomatosis. GO annotations related to this gene include phytoceramidase activity.

UniProtKB/Swiss-Prot: ACER3_HUMAN, Q9NUN7
Function: Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity

Gene Wiki entry for ACER3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACER3 gene promoter:
         STAT1   Pax-6   YY1   Evi-1   C/EBPalpha   RORalpha1   Pax-3   c-Myb   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACER3 promoter sequence
   Search Chromatin IP Primers for ACER3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACER3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.5   Ensembl cytogenetic band:  11q13.5   HGNC cytogenetic band: 11q13.5

ACER3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACER3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P076571:  view genomic region     (about GC identifiers)

Start:
76,571,911 bp from pter      End:
76,737,841 bp from pter
Size:
165,931 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACER3_HUMAN, Q9NUN7 (See protein sequence)
Recommended Name: Alkaline ceramidase 3  
Size: 267 amino acids; 31552 Da
Secondary accessions: B2RC99
Alternative splicing: 2 isoforms:  Q9NUN7-1   Q9NUN7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACER3: NX_Q9NUN7

Explore proteomics data for ACER3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn24

  • See ACER3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060837.3  
    ENSEMBL proteins: 
     ENSP00000435733   ENSP00000434480   ENSP00000432109   ENSP00000432379   ENSP00000433368  
     ENSP00000435048   ENSP00000431149   ENSP00000436252   ENSP00000431504   ENSP00000278544  
     ENSP00000440916   ENSP00000440663  
    Reactome Protein details: Q9NUN7

    ACER3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ACER3

    ACER3 Antibody Products:

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    ACER3 Assay Products:

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    Cloud-Clone Corp. ELISAs for ACER3
    Cloud-Clone Corp. CLIAs for ACER3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ACER: Alkaline ceramidase

    1 InterPro protein domain:
     IPR008901 Ceramidase

    Graphical View of Domain Structure for InterPro Entry Q9NUN7

    ProtoNet protein and cluster: Q9NUN7

    2 Blocks protein domains:
    IPB002222 Ribosomal protein S19/S15
    IPB008901 Alkaline phytoceramidase


    UniProtKB/Swiss-Prot: ACER3_HUMAN, Q9NUN7
    Similarity: Belongs to the alkaline ceramidase family


    ACER3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACER3_HUMAN, Q9NUN7
    Function: Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity
    Enzyme regulation: Activated by Ca(2+) and inhibited by Zn(2+)

         Enzyme Number (IUBMB): EC 3.5.1.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016811hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides ----
    GO:0070774phytoceramidase activity IDA11356846
         
    ACER3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACER3:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACER3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACER3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACER3

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACER3:
    hsa-mir-30b-5p (MIRT046140)

    Block miRNA regulation of human, mouse, rat ACER3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACER3 (see all 43):
    hsa-let-7d hsa-miR-4328 hsa-miR-3653 hsa-miR-578 hsa-let-7g hsa-miR-649 hsa-let-7a hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidACER3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACER3
    Predesigned siRNA for gene silencing in human, mouse, rat ACER3

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ACER3

    Clone
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    OriGene ORF clones in mouse, rat for ACER3
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    GenScript: all cDNA clones in your preferred vector: ACER3 (NM_018367)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACER3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACER3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ACER3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACER3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACER3_HUMAN, Q9NUN7: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane;
    Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane3
    lysosome2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane ----
    GO:0030173integral component of Golgi membrane IDA11356846
    GO:0030176integral component of endoplasmic reticulum membrane IDA11356846

    ACER3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACER3 About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Sphingolipid de novo biosynthesis0.46
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ACER3
        Sphingolipid de novo biosynthesis


    1 Kegg Pathway  (Kegg details for ACER3):
        Sphingolipid metabolism


    ACER3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACER3
    Interactions:

        Search GeneGlobe Interaction Network for ACER3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for ACER3 (Q9NUN73 ENSP000002785444) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGPAT1Q999433I2D: score=1 
    ENSG00000206324Q999433I2D: score=1 
    ENSG00000226467Q999433I2D: score=1 
    ENSG00000227642Q999433I2D: score=1 
    ENSG00000228892Q999433I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006672ceramide metabolic process IEA--
    GO:0008284positive regulation of cell proliferation IMP--
    GO:0030148sphingolipid biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--

    ACER3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACER3

    2 HMDB Compounds for ACER3    About this table
    CompoundSynonyms CAS #PubMed Ids
    DihydroceramideN-Acylsphinganine (see all 2)----
    Sphinganine2-amino-D-erythro-1,3-Octadecanediol (see all 13)764-22-7--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACER3 gene: 
    NM_018367.5  

    Unigene Cluster for ACER3:

    Alkaline ceramidase 3
    Hs.23862  [show with all ESTs]
    Unigene Representative Sequence: NM_018367
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534206 ENST00000532485(uc009yum.1 uc001oxu.2 uc009yun.1 uc009yuo.1 uc010rsh.1 uc010rsi.1 uc010rsj.1)
    ENST00000530182 ENST00000525194(uc009yul.1) ENST00000525861 ENST00000531461
    ENST00000530334(uc010rsg.1) ENST00000526597 ENST00000533873 ENST00000531352
    ENST00000278544 ENST00000527508 ENST00000525325 ENST00000530921 ENST00000538157
    ENST00000544113
    miRNA
    Products:
         
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    43 qRT-PCR Assays for microRNAs that regulate ACER3 (see first 8):
    hsa-let-7d hsa-miR-4328 hsa-miR-3653 hsa-miR-578 hsa-let-7g hsa-miR-649 hsa-let-7a hsa-miR-298
    hsa-miR-149 hsa-miR-3658 hsa-miR-497* hsa-miR-4257 hsa-miR-181b hsa-miR-98 hsa-miR-1290 hsa-miR-491-3p
    hsa-miR-181a hsa-miR-3201 hsa-let-7i hsa-let-7e hsa-miR-587 hsa-miR-26a hsa-miR-590-3p hsa-miR-217
    hsa-miR-181c hsa-let-7c hsa-miR-1297 hsa-miR-483-3p hsa-miR-548g hsa-miR-7-1* hsa-miR-24 hsa-miR-26b
    hsa-miR-22 hsa-miR-577 hsa-miR-7-2* hsa-miR-181d hsa-miR-3647-3p hsa-miR-146a* hsa-miR-4316 hsa-miR-182
    hsa-let-7b hsa-let-7f hsa-miR-4262
    SwitchGear 3'UTR luciferase reporter plasmidACER3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ACER3
    Predesigned siRNA for gene silencing in human, mouse, rat ACER3
    Clone
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    OriGene clones in human, mouse for ACER3 (see all 6)
    OriGene ORF clones in mouse, rat for ACER3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACER3 (NM_018367)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACER3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACER3
    Primer
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    OriGene qPCR primer pairs and template standards for ACER3
    OriGene qSTAR qPCR primer pairs in human, mouse for ACER3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACER3
      QuantiTect SYBR Green Assays in human, mouse, rat ACER3
      QuantiFast Probe-based Assays in human, mouse, rat ACER3

    Additional mRNA sequence: 

    AF214454.1 AF327353.1 AK002100.1 AK090589.1 AK293800.1 AK294978.1 AK295142.1 AK295327.1 
    AK308856.1 AK315000.1 AK316120.1 BC049837.1 BC063034.1 BC073853.1 

    11 DOTS entries:

    DT.215247  DT.95272209  DT.99965280  DT.75187136  DT.100775431  DT.120712876  DT.92430861  DT.91850107 
    DT.120712854  DT.91978817  DT.100775433 

    Selected AceView cDNA sequences (see all 173):

    AL041534 Z42572 AI375670 AA993809 AW269898 AW580728 CB151110 AU127447 
    AK090589 AI381255 AW128871 BX509135 AA172039 AA258916 F08429 BQ889235 
    BU679820 AI494146 AA810123 AI089829 BF109605 AA285133 AA828500 BC049837 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ACER3    About this scheme

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


    ECgene alternative splicing isoforms for ACER3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACER3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGCAGAGC
    ACER3 Expression
    About this image


    ACER3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Skeletal Muscle (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Testis (Reproductive System)
    ACER3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACER3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.23862

    UniProtKB/Swiss-Prot: ACER3_HUMAN, Q9NUN7
    Tissue specificity: Ubiquitously expressed. Highest expression in placenta

        Custom PCR Arrays for ACER3
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    QuantiFast Probe-based Assays in human, mouse, rat ACER3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACER3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACER3 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acer31 , 5 alkaline ceramidase 31, 5 88.51(n)1
    88.39(a)1
      7 (53.65 cM)5
    661901  NM_025408.21  NP_079684.21 
     982136585 
    chicken
    (Gallus gallus)
    Aves ACER31 alkaline ceramidase 3 76.94(n)
    74.44(a)
      419087  XM_417279.4  XP_417279.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACER36
    alkaline ceramidase 3
    75(a)
    1 ↔ 1
    GL343493.1(138772-176417)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.320712 Xenopus laevis transcribed sequence with moderate similarity more 74.52(n)    CD303475.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.276872 Transcribed sequence with weak similarity to protein more 77.72(n)    AI979378.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YDC1(YPL087W)4
    YDC11
    Alkaline dihydroceramidase, involved in sphingolipid more4
    YDC11
    49.65(n)1
    38.4(a)1
      16(383455-384408)4
    8560181, 4  NP_015238.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATCES11 ATCES1 45.13(n)
    30.86(a)
      828328  NM_118359.3  NP_567660.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g06989001 Os03g0698900 44.81(n)
    32.38(a)
      4333811  NM_001057518.1  NP_001050983.1 


    ENSEMBL Gene Tree for ACER3 (if available)
    TreeFam Gene Tree for ACER3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACER3 (see all 3175)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs127952421,2
    C,F--76569933(+) gagggG/Agtact 1 -- us2k14Minor allele frequency- A:0.07NA WA 242
    rs1179466721,2
    F--76569952(+) ATTCCC/TGGAAG 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1441680281,2
    C--76570007(+) TGGGCA/GACAGA 1 -- us2k10--------
    rs1930818661,2
    --76570030(+) CTCAAA/CAAAGA 1 -- us2k10--------
    rs79315611,2
    C,F,A,H--76570060(+) TATTCC/GTATTA 1 -- us2k1 tfbs328Minor allele frequency- G:0.30NS EA NA WA CSA 2778
    rs1477811051,2
    C--76570145(+) ATCACA/GAGGTC 1 -- us2k10--------
    rs1854123321,2
    --76570182(+) AAGGTA/GAAACC 1 -- us2k10--------
    rs79318941,2
    C,F,A--76570322(+) TGCCAC/GTGCAT 1 -- us2k17Minor allele frequency- G:0.17NA WA CSA 12
    rs1898903841,2
    --76570339(+) CTGGCA/CGACAG 1 -- us2k10--------
    rs106771601,2
    C--76570372(+) aaaaa-/A/    
       AAAAA
    aaaaa
    1 -- us2k1 trp31NA 2

    HapMap Linkage Disequilibrium report for ACER3 (76571911 - 76737841 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ACER3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661671CNV Deletion23128226
    esv1509546CNV Insertion17803354
    nsv507599CNV Insertion20534489
    nsv498761CNV Loss21111241
    nsv518920CNV Loss19592680
    esv23557CNV Loss19812545
    nsv396CNV Loss18451855
    nsv519309CNV Loss19592680
    nsv519700CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    7 diseases for ACER3:    
    About MalaCards
    partial fetal alcohol syndrome    lipogranulomatosis    farber lipogranulomatosis    fetal alcohol syndrome
    cortical blindness    lynch syndrome    blindness

    2 diseases from the University of Copenhagen DISEASES database for ACER3:
    Partial fetal alcohol syndrome     Farber lipogranulomatosis

    ACER3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ACER3
    Human Genome Epidemiology (HuGE) Navigator: ACER3 (5 documents)

    Export disorders for ACER3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACER3 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with ACER3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel human alkaline ceramidase. A mammalian enzyme that hydrolyzes phytoceramide. (PubMed id 11356846)1, 2, 3, 9 Mao C.... Obeid L.M. (J. Biol. Chem. 2001)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    5. Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate. (PubMed id 18619555)1, 3 Mao C. and Obeid L.M. (Biochim. Biophys. Acta 2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. (PubMed id 20706999)1 Brieger A....Trojan J. (Proteomics 2010)
    9. Alkaline ceramidase 3 (ACER3) hydrolyzes unsaturated long-chain ceramides, and its down-regulation inhibits both cell proliferation and apoptosis. (PubMed id 20068046)1 Hu W....Mao C. (J. Biol. Chem. 2010)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 55331 HGNC: 16066 AceView: PHCA Ensembl:ENSG00000078124 euGenes: HUgn55331
    ECgene: ACER3 Kegg: 55331 H-InvDB: ACER3

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ACER3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ACER3 gene:
    Search GeneIP for patents involving ACER3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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