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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACER3 Gene

protein-coding   GIFtS: 57
GCID: GC11P076571

Alkaline Ceramidase 3

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

Aliases
for ACER3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
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


Summaries
for ACER3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
GeneCards Summary for ACER3 Gene: 
ACER3 (alkaline ceramidase 3) is a protein-coding gene. Diseases associated with ACER3 include lipogranulomatosis, and farber lipogranulomatosis, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences 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 plasmid: ACER3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACER3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ACER3 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: ACER3_HUMAN, Q9NUN7 (See protein sequence)
Recommended Name: Alkaline ceramidase 3  
Size: 267 amino acids; 31552 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane;
Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NUN7

    • ACER3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACER3 Protein Expression
    REFSEQ proteins: NP_060837.3  
    ENSEMBL proteins: 
     ENSP00000435733   ENSP00000434480   ENSP00000432109   ENSP00000432379   ENSP00000433368  
     ENSP00000435048   ENSP00000431149   ENSP00000436252   ENSP00000431504   ENSP00000278544  
     ENSP00000440916   ENSP00000440663  
    Reactome Protein details: Q9NUN7
    Human Recombinant Protein Products for ACER3: 
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    OriGene Custom MassSpec 
    OriGene Custom Protein Services for ACER3
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACER3 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    ACER3 for ontologies           About GeneDecksing



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    Assay Products for ACER3: 
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    Protein Domains /
    Families
    for ACER3 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 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


    Function
    for ACER3 gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for ACER3 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACER3 
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    miRNA
    Products:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACER3
    8/43 QIAGEN miScript miRNA 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 plasmid: ACER3 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACER3

    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACER3


    Pathways & Interactions
    for ACER3 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACER3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    		Sphingolipid metabolism0.63
    		Sphingolipid de novo biosynthesis0.47
    		Sphingolipid metabolism0.63
    2Metabolism
    		Metabolism0.40
    		Metabolism of lipids and lipoproteins0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for ACER3
        Sphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins
    Sphingolipid de novo biosynthesis


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


    ACER3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACER3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/41 Interacting proteins for ACER3 (Q9NUN73 ENSP000002785444) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    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): 5/7 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for ACER3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about ACER3

    Transcripts
    for ACER3 gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    8/43 QIAGEN miScript miRNA 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 plasmid: ACER3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ACER3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACER3
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACER3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACER3
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACER3
      QIAGEN 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 

    24/173 AceView cDNA sequences (see all 173):

    AI375670 AA732220 AW971795 BQ023358 AI954517 BG056421 AA993809 AA258154 
    AW580728 BC049837 Z41426 AW269898 AI354655 Z42572 AA285133 BI824983 
    AI094877 BF109605 AA828500 BF367730 AL041534 CB151110 AU127447 AK090589 

    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

    Expression
    for ACER3 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACER3 expression in normal human tissues (normalized intensities)      ACER3 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             c-kit+ gr1+ mac1- myeloblasts   
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Tooth
             mouse/organ system/integumental system   
     
     Skeletal Muscle (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome

    See ACER3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACER3

    SOURCE GeneReport for Unigene cluster: Hs.23862

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

        SABiosciences Custom PCR Arrays for ACER3
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    In Situ
    Assay Products:     
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    Orthologs
    for ACER3 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACER3 gene from 8/17 species (see all 17)    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_417279.3  XP_417279.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ACER36
    		 Uncharacterized protein
    		 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
    Ydc1p1    		 49.65(n)1
    38.4(a)1    		   16(383455-384408)4
    8560181, 4  NP_015238.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATCES11 dihydroceramidase 44.54(n)
    29.83(a)    		   828328  NM_118359.3  NP_567660.1 
    rice
    (Oryza sativa)    		 Liliopsida Os03g06989001 hypothetical protein 45.04(n)
    32.64(a)    		   4333811  NM_001057518.1  NP_001050983.1 


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

    Paralogs
    for ACER3 gene

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

    Genomic Variants
    for ACER3 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3175 SNPs in ACER3 are shown (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

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    Disorders / Diseases
    for ACER3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 7 diseases for ACER3:    About MalaCards
    lipogranulomatosis    farber lipogranulomatosis    partial fetal alcohol syndrome    cortical blindness
    fetal alcohol syndrome    blindness    alcoholism

    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

    Publications
    for ACER3 gene

    (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)
    About This Section

    PubMed articles for ACER3 gene, integrated from 9 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. (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. (2010)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (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. (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. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Cytoskeletal scaffolding proteins interact with Lynch- Syndrome associated mismatch repair protein MLH1. (PubMed id 20706999)1 Brieger A....Trojan J. (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. (2010)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)

    External Searches for ACER3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ACER3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55331 HGNC: 16066 AceView: PHCA Ensembl:ENSG00000078124 euGenes: HUgn55331
    ECgene: ACER3 Kegg: 55331 H-InvDB: ACER3

    Other Databases showing ACER3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACER3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACER3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ACER3 gene

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



    Products
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    About This Section

     
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