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ENC1 Gene

protein-coding   GIFtS: 57
GCID: GC05M073923

Ectodermal-Neural Cortex 1 (With BTB Domain)

(Previous name: ectodermal-neural cortex 1 (with BTB-like domain))
(Previous symbol: NRPB)
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(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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ectodermal-Neural Cortex 1 (With BTB Domain)1 2     P53-Induced Gene 10 Protein2 3
NRPB1 2 3     CCL282
PIG102 3 5     KLHL352
Ectodermal-Neural Cortex 1 (With BTB-Like Domain)1 2     TP53I102
Kelch-Like Family Member 371 2     Ectoderm-Neural Cortex Protein 12
Kelch-Like Protein 372 3     Kelch-Like 352
Nuclear Matrix Protein NRP/B2 3     Nuclear Restricted Protein, BTB Domain-Like (Brain)2
ENC-12 3     Tumor Protein P53 Inducible Protein 102
KLHL372 3     

External Ids:    HGNC: 33451   Entrez Gene: 85072   Ensembl: ENSG000001716177   OMIM: 6051735   UniProtKB: O146823   
ORGUL members:         

Export aliases for ENC1 gene to outside databases

Previous GC identifers: GC05M072727 GC05M074156 GC05M073961 GC05M074007 GC05M073958 GC05M069128


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ENC1 Gene:
This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role
in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may
play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms
have been observed for this gene. (provided by RefSeq, Feb 2012)

GeneCards Summary for ENC1 Gene:
ENC1 (ectodermal-neural cortex 1 (with BTB domain)) is a protein-coding gene. GO annotations related to this gene include actin binding. An important paralog of this gene is KLHL21.

UniProtKB/Swiss-Prot: ENC1_HUMAN, O14682
Function: Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of
neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis
and not via a ubiquitin-mediated proteasomal degradation mechanism

Gene Wiki entry for ENC1 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 at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the ENC1 gene promoter:
         GR   Max1   GR-beta   Nkx2-5   GATA-1   AREB6   POU2F1a   STAT3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ENC1 promoter sequence
   Search Chromatin IP Primers for ENC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENC1


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

Entrez Gene cytogenetic band: 5q13   Ensembl cytogenetic band:  5q13.3   HGNC cytogenetic band: 5q13

ENC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ENC1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M073923:  view genomic region     (about GC identifiers)

Start:
73,923,234 bp from pter      End:
73,937,249 bp from pter
Size:
14,016 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ENC1_HUMAN, O14682 (See protein sequence)
Recommended Name: Ectoderm-neural cortex protein 1  
Size: 589 amino acids; 66130 Da
Subunit: Binds to RB1. Hypophosphorylated RB1 associates with ENC1 during neuronal differentiation, while
hyperphosphorylated RB1 associates with ENC1 in undifferentiating cells. Part of a complex that contains CUL3,
RBX1 and ENC1. Interacts indirectly with KEAP1
Developmental stage: Dramatically up-regulated upon neuronal differentiation
Secondary accessions: B4DHJ1 E9PFU0 O75464 Q9UPG9
Alternative splicing: 2 isoforms:  O14682-1   O14682-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ENC1: NX_O14682

Explore proteomics data for ENC1 at MOPED

Post-translational modifications: 

  • Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for
    proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ENC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001243503.1  NP_001243504.1  NP_001243505.1  NP_003624.1  

    ENSEMBL proteins: 
     ENSP00000306356   ENSP00000423804   ENSP00000422943   ENSP00000426889   ENSP00000446289  

    ENC1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ENC1

     
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    antibodies-online proteins for ENC1 (6 products) 

     
    antibodies-online peptides for ENC1

    ENC1 Antibody Products:

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    antibodies-online kits for ENC1 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    Selected InterPro protein domains (see all 7):
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR017096 Kelch-like_gigaxonin-typ
     IPR013069 BTB_POZ
     IPR011705 BACK

    Graphical View of Domain Structure for InterPro Entry O14682

    ProtoNet protein and cluster: O14682

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: ENC1_HUMAN, O14682
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    Find genes that share domains with ENC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ENC1_HUMAN, O14682
    Function: Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of
    neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis
    and not via a ubiquitin-mediated proteasomal degradation mechanism
    Induction: By p53/TP53

         Genatlas biochemistry entry for ENC1:
    ectodermal-neural cortex 1,nuclear matrix protein,expressed in the brain and spinal cord,associating with
    RB1,involved in differentiation of neural crest cells,may be down-regulated in neuroblastoma

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI19424503
         
    Find genes that share ontologies with ENC1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for ENC1:
     Big cells  Decreased cilium length after   Increased cell death in breast  Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ENC1

    miRNA
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    miRTarBase miRNAs that target ENC1:
    hsa-mir-505-5p (MIRT037951), hsa-mir-215-5p (MIRT024264), hsa-mir-192-5p (MIRT026945)

    Block miRNA regulation of human, mouse, rat ENC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ENC1 (see all 76):
    hsa-miR-549 hsa-miR-607 hsa-miR-938 hsa-miR-3653 hsa-miR-4275 hsa-miR-149 hsa-miR-298 hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidENC1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ENC1 (NM_003633)
    Sino Biological Human cDNA Clone for ENC1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENC1
    Addgene plasmids for ENC1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENC1


    (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
    ENC1_HUMAN, O14682: Nucleus matrix. Cytoplasm. Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol3
    mitochondrion2
    golgi apparatus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS9566959
    GO:0005737cytoplasm IDA19424503
    GO:0005856cytoskeleton IEA--
    GO:0016363nuclear matrix IEA--
    GO:0031463Cul3-RING ubiquitin ligase complex IDA15983046

    Find genes that share ontologies with ENC1           About GenesLikeMe


    (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 ENC1 About    
    See pathways by source

    SuperPathContained pathways About
    1WNT Signaling
    WNT Signaling

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ENC1
        WNT Signaling



        Pathway & Disease-focused RT2 Profiler PCR Array including ENC1: 
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ENC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ENC1 (O146823 ENSP000003063564) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL3Q136183, ENSP000002644144I2D: score=1 STRING: ENSP00000264414
    RBX1P628773, ENSP000002162254I2D: score=1 STRING: ENSP00000216225
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    RB1P064003, ENSP000002671634I2D: score=3 STRING: ENSP00000267163
    TGFBR1P368973, ENSP000003641334I2D: score=3 STRING: ENSP00000364133
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development TAS9566959
    GO:0007399nervous system development TAS9566959
    GO:0010499proteasomal ubiquitin-independent protein catabolic process IDA19424503
    GO:0016567protein ubiquitination IDA15983046
    GO:0017148negative regulation of translation IDA19424503

    Find genes that share ontologies with ENC1           About GenesLikeMe



    (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 ENC1



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ENC1 gene (4 alternative transcripts): 
    NM_001256574.1  NM_001256575.1  NM_001256576.1  NM_003633.3  

    Unigene Cluster for ENC1:

    Ectodermal-neural cortex 1 (with BTB domain)
    Hs.104925  [show with all ESTs]
    Unigene Representative Sequence: BT007392
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302351(uc003kdc.4) ENST00000510316(uc011css.2) ENST00000509284
    ENST00000508331 ENST00000509127 ENST00000537006
    miRNA
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    Block miRNA regulation of human, mouse, rat ENC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ENC1 (see all 76):
    hsa-miR-549 hsa-miR-607 hsa-miR-938 hsa-miR-3653 hsa-miR-4275 hsa-miR-149 hsa-miR-298 hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidENC1 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for ENC1 
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      QuantiTect SYBR Green Assays in human, mouse, rat ENC1
      QuantiFast Probe-based Assays in human, mouse, rat ENC1

    Additional mRNA sequence: BT007392.1 

    9 DOTS entries:

    DT.75151032  DT.454436  DT.97849190  DT.100789222  DT.100789223  DT.100789220  DT.95333353  DT.120814505 
    DT.95333354 

    Selected AceView cDNA sequences (see all 462):

    BM552340 AA904092 BG059641 AW576802 AU120246 AA443479 BM312731 BX116607 
    BM981783 CR602279 CA421257 BQ432453 H51876 BM724535 BM468706 BQ961595 
    BM562935 CN483170 AW901779 AW576800 CB243781 BM476137 BM312422 H83913 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ENC1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5
    SP1:                    -     -     -                           
    SP2:                    -                                       
    SP3:                                                            
    SP4:                    -     -     -     -                     


    ECgene alternative splicing isoforms for ENC1

    (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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    ENC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCATATGTA
    ENC1 Expression
    About this image


    ENC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
             Floor plate-like cells
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiac Fibroblasts Myocardium
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Thymus (Hematopoietic System)
             Thymus
     
     NULL (Uncategorized)
             Mesoderm-like cells
    ENC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.104925

    UniProtKB/Swiss-Prot: ENC1_HUMAN, O14682
    Tissue specificity: Detected in fetal brain tissue, moderate expression in fetal heart, lung and kidney. Highly
    expressed in adult brain, particularly high in the hippocampus and amygdala, and spinal chord. Detectable in
    adult pancreas. May be down-regulated in neuroblastoma tumors

        Pathway & Disease-focused RT2 Profiler PCR Array including ENC1: 
              Ubiquitin Ligases in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat ENC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENC1

    (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 chordates.

    Orthologs for ENC1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Enc11 , 5 ectodermal-neural cortex 11, 5 90.32(n)1
    99.32(a)1
      13 (50.66 cM)5
    138031  NM_007930.41  NP_031956.31 
     972411055 
    chicken
    (Gallus gallus)
    Aves ENC11 ectodermal-neural cortex 1 (with BTB-like domain) 82.91(n)
    97.11(a)
      427203  XM_004937360.1  XP_004937417.1 
    lizard
    (Anolis carolinensis)
    Reptilia ENC16
    Uncharacterized protein
    96(a)
    1 ↔ 1
    2(15235708-15237477)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.22262 Xenopus laevis ectoderm neural cortex related-3 (Encr-3) more 79.89(n)    AY216793.1 
    zebrafish
    (Danio rerio)
    Actinopterygii enc12 ectodermal-neural cortex (with BTB-like domain) 76.14(n)   327531  BC045427.1 


    ENSEMBL Gene Tree for ENC1 (if available)
    TreeFam Gene Tree for ENC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ENC1 gene
    KLHL212  KLHL62  KBTBD82  KLHL412  KBTBD122  KBTBD22  KLHL242  KLHL382  
    KLHL292  KBTBD32  KLHL232  KLHL402  KBTBD72  KLHL302  KBTBD62  KLHL252  
    KLHL352  
    Selected SIMAP similar genes for ENC1 using alignment to 4 protein entries:     ENC1_HUMAN (see all proteins) (see all similar genes):
    KLHL25    KBTBD3    KLHL32    KLHL17    KLHL20    KLHL3
    KLHL5    KLHL24    KLHL4    KLHL23    KLHL1    KLHL12
    KLHL2    KLHL28    KLHL38    KLHL6    KLHL29    KLHL18

    Find genes that share paralogs with ENC1           About GenesLikeMe



    (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)
    About This Section

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    Selected SNPs for ENC1 (see all 352)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38420301,2
    C--69138432(+) TGTGT-/GT/G  
     TGTGTGT
    ATTTT
    5 -- int10--------
    rs1122113951,2
    C,F--73922976(+) CTTAAT/CATCGC 5 -- ds50012Minor allele frequency- C:0.11CSA WA 120
    rs762262321,2
    C,F--73923058(+) ATACTC/GTAATG 5 -- ds50011Minor allele frequency- G:0.05WA 118
    rs355470491,2
    C,F--73923134(+) ACGTTC/TGGAAT 5 -- ds50014Minor allele frequency- T:0.07NA 126
    rs68642031,2
    C,H--73923142(+) AATATC/TTGAAA 5 -- ds50014Minor allele frequency- T:0.00NS EA 420
    rs1444428011,2
    --73923167(+) ATAAAC/TGAGAA 5 -- ds50010--------
    rs1849885471,2
    --73923251(+) CTCTAA/GTAATT 5 -- ut31 nc-transcript-variant0--------
    rs1136691421,2
    C--73923260(+) TTTATC/TGACCT 5 -- ut31 nc-transcript-variant0--------
    rs1394233581,2
    C--73923341(+) AGTACA/CTATGA 5 -- ut31 nc-transcript-variant0--------
    rs762879551,2
    C,F--73923399(+) CATGGT/CCAATA 5 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.03EA 120

    HapMap Linkage Disequilibrium report for ENC1 (73923234 - 73937249 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ENC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830351CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ENC1
    DNA2.0 Custom Variant and Variant Library Synthesis for ENC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605173    OMIM disorders: --


    Find genes that share disorders with ENC1           About GenesLikeMe

    1 Novoseek inferred disease relationship for ENC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon cancer 36.9 3 11691783 (3)


    Export disorders for ENC1 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 ENC1 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with ENC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NRP/B, a novel nuclear matrix protein, associates with p110(RB) and is involved in neuronal differentiation. (PubMed id 9566959)1, 2, 3 Kim T.-A....Avraham S. (J. Cell Biol. 1998)
    2. A model for p53-induced apoptosis. (PubMed id 9305847)1, 2, 3 Polyak K.... Vogelstein B. (Nature 1997)
    3. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PubMed id 19424503)1, 2 Wang X.J. and Zhang D.D. (PLoS ONE 2009)
    4. Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway. (PubMed id 15983046)1, 2 Zhang D.D.... Hannink M. (J. Biol. Chem. 2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. Cloning of human ENC-1 and evaluation of its expression and regulation in nervous system tumors. (PubMed id 9683534)1, 2 Hernandez M.-C.... Israel M.A. (Exp. Cell Res. 1998)
    8. Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC- 1AS and identification of ENC-1 overexpression in hairy cell leukemia. (PubMed id 15459180)1, 9 Hammarsund M.... Corcoran M. (Hum. Mol. Genet. 2004)
    9. Up-regulation of the ectodermal-neural cortex 1 (ENC1) gene, a downstream target of the beta-catenin/T-cell factor complex, in colorectal carcinomas. (PubMed id 11691783)1, 9 Fujita M....Nakamura Y. (Cancer Res. 2001)
    10. The BTB domain of the nuclear matrix protein NRP/B is required for neurite outgrowth. (PubMed id 16306221)1, 9 Kim T.A....Avraham S. (J. Cell. Sci. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 8507 HGNC: 3345 AceView: ENC1 Ensembl:ENSG00000171617 euGenes: HUgn8507
    ECgene: ENC1 H-InvDB: ENC1

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for ENC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ENC1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENC1 gene:
    Search GeneIP for patents involving ENC1

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



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