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NCEH1 Gene

protein-coding   GIFtS: 57
GCID: GC03M172348

Neutral Cholesterol Ester Hydrolase 1

(Previous name: arylacetamide deacetylase-like 1)
(Previous symbol: AADACL1)
  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
Neutral Cholesterol Ester Hydrolase 11 2     KIAA13633 5
Arylacetamide Deacetylase-Like 11 2 3     EC 3.1.1.-3
AADACL11 2 3     EC 3.1.18
NCEH2 3 5     EC 3.1.1.798

External Ids:    HGNC: 292601   Entrez Gene: 575522   Ensembl: ENSG000001449597   OMIM: 6132345   UniProtKB: Q6PIU23   

Export aliases for NCEH1 gene to outside databases

Previous GC identifers: GC03M173833 GC03M169719


(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 NCEH1 Gene:
NCEH1 (neutral cholesterol ester hydrolase 1) is a protein-coding gene. Diseases associated with NCEH1 include infertility, and atherosclerosis. GO annotations related to this gene include . An important paralog of this gene is AADAC.

UniProtKB/Swiss-Prot: NCEH1_HUMAN, Q6PIU2
Function: Hydrolyzes 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo
synthesis of platelet-activating factor. May be responsible for cholesterol ester hydrolysis in macrophages,
thereby contributing to the development of atherosclerosis. Also involved in organ detoxification by hydrolyzing
exogenous organophosphorus compounds. May contribute to cancer pathogenesis by promoting tumor cell migration

Gene Wiki entry for NCEH1 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_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NCEH1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNCEH1 promoter sequence
   Search Chromatin IP Primers for NCEH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NCEH1


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

Entrez Gene cytogenetic band: 3q26.31   Ensembl cytogenetic band:  3q26.31   HGNC cytogenetic band: 3q26.31

NCEH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NCEH1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M172348:  view genomic region     (about GC identifiers)

Start:
172,348,039 bp from pter      End:
172,429,008 bp from pter
Size:
80,970 bases      Orientation:
minus 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: NCEH1_HUMAN, Q6PIU2 (See protein sequence)
Recommended Name: Neutral cholesterol ester hydrolase 1  
Size: 408 amino acids; 45808 Da
Sequence caution: Sequence=AAH28734.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH47588.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AC007919;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AC069237; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=BAA92601.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened; Sequence=BAH13028.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAH14142.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAH14802.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B7Z2K4 B7Z3A1 B7Z5U2 B7Z906 B7ZAW6 F5H7K4 Q86WZ1 Q9P2I4
Alternative splicing: 3 isoforms:  Q6PIU2-1   Q6PIU2-2   Q6PIU2-3   

Explore the universe of human proteins at neXtProt for NCEH1: NX_Q6PIU2

Explore proteomics data for NCEH1 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn270, Asn287, Asn389
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NCEH1 (Q6PIU2) (see all 11)
     LGLSHHL  SFGKKSA  DVLRDDG  PKPEEPL 


    See NCEH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001139748.1  NP_001139749.1  NP_001139750.1  NP_065843.3  

    ENSEMBL proteins: 
     ENSP00000418571   ENSP00000392934   ENSP00000402196   ENSP00000442464   ENSP00000273512  
     ENSP00000443227  

    NCEH1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR002168 Lipase_GDXG_AS
     IPR017157 Arylacetamide_deacetylase
     IPR013094 AB_hydrolase_3

    Graphical View of Domain Structure for InterPro Entry Q6PIU2

    ProtoNet protein and cluster: Q6PIU2

    2 Blocks protein domains:
    IPB002168 Lipolytic enzyme
    IPB013094 Alpha/beta hydrolase fold-3


    UniProtKB/Swiss-Prot: NCEH1_HUMAN, Q6PIU2
    Similarity: Belongs to the 'GDXG' lipolytic enzyme family


    NCEH1 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: NCEH1_HUMAN, Q6PIU2
    Function: Hydrolyzes 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo
    synthesis of platelet-activating factor. May be responsible for cholesterol ester hydrolysis in macrophages,
    thereby contributing to the development of atherosclerosis. Also involved in organ detoxification by hydrolyzing
    exogenous organophosphorus compounds. May contribute to cancer pathogenesis by promoting tumor cell migration

         Enzyme Numbers (IUBMB): EC 3.1.12 EC 3.1.1.-1 EC 3.1.1.792

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity ----
    GO:0017171serine hydrolase activity ----
    GO:0042301phosphate ion binding ----
    GO:0052689carboxylic ester hydrolase activity IEA--
         
    NCEH1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nceh1):
     cardiovascular system  cellular  hematopoietic system  homeostasis/metabolism  immune system 

    NCEH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NCEH1: Nceh1tm1Ishi Nceh1tm1Jcsd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NCEH1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NCEH1

    miRNA
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    miRTarBase miRNAs that target NCEH1:
    hsa-mir-192-5p (MIRT026590), hsa-mir-7-5p (MIRT025849), hsa-mir-215-5p (MIRT024804), hsa-mir-744-5p (MIRT037667), hsa-mir-30a-5p (MIRT005151), hsa-mir-361-5p (MIRT020097)

    Block miRNA regulation of human, mouse, rat NCEH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NCEH1 (see all 37):
    hsa-miR-140-5p hsa-miR-106a hsa-miR-449a hsa-miR-93 hsa-miR-330-3p hsa-miR-526b* hsa-miR-1290 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidNCEH1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NCEH1
    Predesigned siRNA for gene silencing in human, mouse, rat NCEH1

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    GenScript: all cDNA clones in your preferred vector (see all 4): NCEH1 (NM_020792)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NCEH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NCEH1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCEH1


    (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
    NCEH1_HUMAN, Q6PIU2: Membrane; Single-pass type II membrane protein (Probable). Microsome (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum3
    extracellular2
    golgi apparatus2
    cytosol1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    NCEH1 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 NCEH1 About    
    See pathways by source

    SuperPathContained pathways About
    1Bile secretion
    Bile secretion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for NCEH1):
        Bile secretion


    NCEH1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NCEH1
    Interactions:

        Search GeneGlobe Interaction Network for NCEH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for NCEH1 (ENSP000002735124) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PFDN1ENSP000002618134STRING: ENSP00000261813
    PFDN5ENSP000003341884STRING: ENSP00000334188
    SIN3AENSP000003536224STRING: ENSP00000353622
    SIN3BENSP000003691314STRING: ENSP00000369131
    COX5BENSP000002584244STRING: ENSP00000258424
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation ----
    GO:0006805xenobiotic metabolic process ----
    GO:0008152metabolic process ----
    GO:0016042lipid catabolic process IEA--

    NCEH1 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 NCEH1

    Selected HMDB Compounds for NCEH1 (see all 31)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CE(10:0)Decanoic acid cholesteryl ester (see all 18)1183-04-6--
    CE(12:0)cholest-5-en-3beta-yl dodecanoate (see all 19)1908-11-8--
    CE(14:0)14:0 Cholesterol ester (see all 24)1989-52-2--
    CE(14:1(9Z))CE(14:1/0:0) (see all 22)----
    CE(16:0)Cholest-5-ene-3-beta-yl palmitate (see all 23)601-34-3--
    CE(16:1(9Z))(Z)-Cholesterol 9-hexadecenoate (see all 33)16711-66-3--
    CE(18:0)cholesterol 1-octadecanoate (see all 14)----
    CE(18:1(11Z))cholesterol 1-(11Z-octadecenoate) (see all 25)----
    CE(18:1(9Z))3beta-Hydroxy-5-cholestene 3-oleate (see all 35)303-43-5--
    CE(18:2(9Z,12Z))cholesterol 1-linoleoic acid (see all 25)604-33-1--



    (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 NCEH1 gene (4 alternative transcripts): 
    NM_001146276.1  NM_001146277.1  NM_001146278.1  NM_020792.4  

    Unigene Cluster for NCEH1:

    Neutral cholesterol ester hydrolase 1
    Hs.444099  [show with all ESTs]
    Unigene Representative Sequence: BC028734
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000475381 ENST00000470419 ENST00000424772 ENST00000421723 ENST00000538775(uc011bpx.2)
    ENST00000273512(uc003fig.3 uc011bpw.2) ENST00000543711(uc011bpy.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat NCEH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NCEH1 (see all 37):
    hsa-miR-140-5p hsa-miR-106a hsa-miR-449a hsa-miR-93 hsa-miR-330-3p hsa-miR-526b* hsa-miR-1290 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidNCEH1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NCEH1
      QuantiFast Probe-based Assays in human, mouse, rat NCEH1

    Additional mRNA sequence: 

    AB037784.1 AK294811.1 AK295641.1 AK299422.1 AK304253.1 AK316431.1 AL512752.1 BC028734.1 
    BC047588.1 

    9 DOTS entries:

    DT.446475  DT.100774528  DT.95302321  DT.97777363  DT.100774526  DT.100774527  DT.120896588  DT.120896590 
    DT.120896610 

    Selected AceView cDNA sequences (see all 97):

    AW192003 AI192253 BX281107 BQ009207 BX378214 AI052302 BE218940 BM968147 
    AI859996 AA625233 AI419800 BQ025160 AA971330 BQ025877 AA314861 AA312886 
    AW083203 R98131 BC028734 BG778641 D82564 AL512752 AI948947 BM712744 

    GeneLoc Exon Structure


    (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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    NCEH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGGAAATA
    NCEH1 Expression
    About this image


    NCEH1 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
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Retina
    NCEH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NCEH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444099

    UniProtKB/Swiss-Prot: NCEH1_HUMAN, Q6PIU2
    Tissue specificity: Expressed in monocyte-derived macrophages. Up-regulated in invasive melanoma and breast
    carcinoma cell lines

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCEH1

    (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 animals.

    Orthologs for NCEH1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nceh11 , 5 arylacetamide deacetylase-like 15
    neutral cholesterol ester hydrolase 11
    82.27(n)1
    87.01(a)1
      3 (10.82 cM)5
    3200241  NM_178772.31  NP_848887.11 
     271829655 
    chicken
    (Gallus gallus)
    Aves NCEH11 neutral cholesterol ester hydrolase 1 72.06(n)
    70.59(a)
      429158  XM_426713.4  XP_426713.3 
    lizard
    (Anolis carolinensis)
    Reptilia NCEH16
    neutral cholesterol ester hydrolase 1
    66(a)
    1 ↔ 1
    3(6182716-6195254)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.334372 Xenopus laevis transcribed sequence with weak similarity more 74.38(n)    BJ639146.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nceh1b1 neutral cholesterol ester hydrolase 1b 56.18(n)
    50.64(a)
      777713  NM_001077761.1  NP_001071229.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T09B9.11 T09B9.1 46.75(n)
    35.46(a)
      181188  NM_001029728.3  NP_001024899.1 


    ENSEMBL Gene Tree for NCEH1 (if available)
    TreeFam Gene Tree for NCEH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NCEH1 gene
    AADAC2  AADACL42  AADACL32  AADACL22  
    4 SIMAP similar genes for NCEH1 using alignment to 4 protein entries:     NCEH1_HUMAN (see all proteins):
    AADAC    AADACL2    AADACL3    AADACL4

    NCEH1 for paralogs           About GeneDecksing



    (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 NCEH1 (see all 1906)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs570180961,2
    C--169726732(+) AAAAA-/A/AAA 
            
    TCCCT
    4 -- int11NA 2
    rs1856866361,2
    --172348020(+) TGACAC/TAAACT 4 -- int10--------
    rs1893785161,2
    --172348056(+) TTAGAC/TTTATT 4 -- int10--------
    rs1806860461,2
    --172348062(+) TTATTC/TGTAAT 4 -- int10--------
    rs1851172701,2
    --172348253(+) ATACTA/GTATCC 4 -- int10--------
    rs1400310371,2
    --172348420(+) CAGAAA/GATGAG 4 -- int10--------
    rs1900693971,2
    --172348428(+) GAGACA/GGGAAA 4 -- int10--------
    rs130644031,2
    C,H--172348612(+) AAAGGT/CCATGC 4 -- ut314Minor allele frequency- C:0.00EA NS NA 302
    rs1452150931,2
    C--172348651(+) TAATAC/GTCTTA 4 -- ut310--------
    rs679822291,2
    C--172348744(+) ATTTC-/ACAG  
            
    ACAAT
    4 -- ut310--------

    HapMap Linkage Disequilibrium report for NCEH1 (172348039 - 172429008 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for NCEH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726214CNV Deletion23290073
    esv2726213CNV Deletion23290073
    nsv4118CNV Insertion18451855
    esv274529CNV Insertion20981092
    nsv518366CNV Loss19592680
    nsv877990CNV Loss21882294
    dgv627n27CNV Gain19166990
    nsv471060CNV Gain18288195
    nsv7356OTHER Inversion18451855

    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.)
    About This Section

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    OMIM gene information: 613234    OMIM disorders: --

    9 diseases for NCEH1:    
    About MalaCards
    infertility    atherosclerosis    tonsillitis    tuberculosis
    hypertension    obesity    cervicitis    melanoma
    cerebritis


    NCEH1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NCEH1
    Human Genome Epidemiology (HuGE) Navigator: NCEH1 (0 documents)

    Export disorders for NCEH1 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 NCEH1 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with NCEH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. Identification of neutral cholesterol ester hydrolase, a key enzyme removing cholesterol from macrophages. (PubMed id 18782767)1, 2 Okazaki H....Ishibashi S. (J. Biol. Chem. 2008)
    3. An enzyme that regulates ether lipid signaling pathways in cancer annotated by multidimensional profiling. (PubMed id 17052608)1, 2 Chiang K.P.... Cravatt B.F. (Chem. Biol. 2006)
    4. 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)
    5. Chemoproteomic discovery of AADACL1 as a regulator of human platelet activation. (PubMed id 23993462)1 Holly S.P....Parise L.V. (amp 2013)
    6. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    9. The critical role of neutral cholesterol ester hydrolase 1 in cholesterol removal from human macrophages. (PubMed id 20947831)1 Igarashi M....Ishibashi S. (Circ. Res. 2010)
    10. Investigation of low-dose ritonavir on human peripheral blood mononuclear cells using gene expression whole genome microarrays. (PubMed id 20353815)1 Yilmaz S....McGregor J.L. (Genomics 2010)

    (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: 57552 HGNC: 29260 AceView: KIAA1363 Ensembl:ENSG00000144959 euGenes: HUgn57552
    ECgene: NCEH1 Kegg: 57552 H-InvDB: NCEH1

    (According to HUGE)
    About This Section

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    HUGE: KIAA1363

    (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 NCEH1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for NCEH1 gene:
    Search GeneIP for patents involving NCEH1

    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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