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

ENC1 Gene

protein-coding   GIFtS: 56
GCID: GC05M073923

Ectodermal-Neural Cortex 1 (With BTB Domain)

(Previous name: ectodermal-neural cortex 1 (with BTB-like domain))
(Previous symbol: NRPB)
  See related diseases
at
MalaCards
 

Aliases
for ENC1 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
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   

Export aliases for ENC1 gene to outside databases

Previous GC identifers: GC05M072727 GC05M074156 GC05M073961 GC05M074007 GC05M073958 GC05M069128


Summaries
for ENC1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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. Diseases associated with ENC1 include hairy cell leukemia, and t-cell leukemia. GO annotations related to this gene include protein binding and 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_006713.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ENC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ENC1 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: 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
Subcellular location: Nucleus matrix. Cytoplasm. Cytoplasm, cytoskeleton
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:

  • UniProtKB: Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for
    proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14682

    • ENC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ENC1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001243503.1  NP_001243504.1  NP_001243505.1  NP_003624.1  

    ENSEMBL proteins: 
     ENSP00000306356   ENSP00000423804   ENSP00000422943   ENSP00000426889   ENSP00000446289  

    Human Recombinant Protein Products for ENC1: 
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    Novus Biologicals ENC1 Lysate
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    Cloud-Clone Corp. Proteins for ENC1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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

    ENC1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ENC1 gene

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

    5/7 InterPro protein domains (see all 7):
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR017096 Kelch-like_gigaxonin
     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


    ENC1 for domains           About GeneDecksing


    Function
    for ENC1 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI19424503
         
    ENC1 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ENC1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ENC1 
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    miRNA
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    8/76 QIAGEN miScript miRNA 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 plasmid: ENC1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of ENC1 

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    In Situ Assay
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    Pathways & Interactions
    for ENC1 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 ENC1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1WNT Signaling
    		WNT Signaling

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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ENC1

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

    5/11 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 (GO ID links to tree view):    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

    ENC1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ENC1 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 ENC1

    Search CenterWatch for drugs/clinical trials and news about ENC1

    Transcripts
    for ENC1 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 ENC1 gene (4 alternative transcripts): 
    NM_001256574.1  NM_001256575.1  NM_001256576.1  NM_003633.3  

    Unigene Clusters for ENC1:

    Ectodermal-neural cortex 1 (with BTB domain)
    Hs.104925  [show with all ESTs], Hs.744844  [show with all ESTs]
    Unigene Representative Sequences: BT007392, NM_001256574
    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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    8/76 QIAGEN miScript miRNA 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 plasmid: ENC1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ENC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ENC1
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENC1

    Additional mRNA sequence: 

    AF005381.1 AF010314.1 AF059611.1 AK096578.1 AK295128.1 AK299624.1 AK312608.1 AY049781.1 
    BC000418.2 NR_046318.1 

    24/26 DOTS entries (see all 26):

    DT.454436  DT.100789223  DT.97849190  DT.100789222  DT.75151032  DT.95333353  DT.120814291  DT.120814563 
    DT.100789220  DT.100650183  DT.120814326  DT.100679195  DT.97794504  DT.120814515  DT.75103411  DT.120814234 
    DT.75160747  DT.92450369  DT.120814253  DT.120814505  DT.120814585  DT.86841267  DT.92450366  DT.120814554 

    24/462 AceView cDNA sequences (see all 462):

    W72085 BQ961595 CB155716 BE205795 AI811585 BU507586 BM476137 AA443479 
    AI537227 CB153497 BQ222370 AA904092 AW901779 AI498867 AI160228 Z44535 
    AW576802 AI250817 BF475821 BM724535 N41682 AU120246 F01670 CN483170 

    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

    Expression
    for ENC1 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

    ENC1 expression in normal human tissues (normalized intensities)      ENC1 embryonic expression: see
    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 
     5/30 selected tissues (see all 30) fully expand
     
     Brain (Nervous System)    fully expand to see all 29 entries
             Thalamus
             Human Hippocampal Astrocytes   
             Globus Pallidus   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Cardiac Fibroblasts Myocardium
             heart/ventricle   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 4 entries
             visceral organ   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Growth Plate
             sensory organ/ear/inner ear   

    See ENC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ENC1

    SOURCE GeneReport for Unigene clusters: Hs.104925 Hs.744844

    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

        SABiosciences Expression via Pathway-Focused PCR Array including ENC1: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for ENC1 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 chordates.

    Orthologs for ENC1 gene from 5/13 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_424790.3  XP_424790.3 
    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
    for ENC1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ENC1 gene
    KLHL212  KLHL62  KBTBD82  KLHL412  KBTBD122  KLHL242  KBTBD22  KLHL382  
    KLHL292  KBTBD32  KLHL232  KLHL402  KLHL72  KBTBD72  KLHL252  KLHL302  
    KBTBD62  KLHL352  
    18/20 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

    ENC1 for paralogs           About GeneDecksing



    Genomic Variants
    for ENC1 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

    10/352 SNPs in ENC1 are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for ENC1 gene

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

    7 diseases for ENC1:    About MalaCards
    hairy cell leukemia    t-cell leukemia    colon cancer    neuroblastoma
    leukemia    neuronitis    breast cancer


    ENC1 for disorders           About GeneDecksing

    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

    Publications
    for ENC1 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 ENC1 gene, integrated from 9 sources (see all 30):
    (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. (1998)
    2. A model for p53-induced apoptosis. (PubMed id 9305847)1, 2, 3 Polyak K....Vogelstein B. (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. (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. (2005)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (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. (2001)
    10. Genomic organization, chromosomal localization and regulation of expression of the neuronal nuclear matrix protein NRP/B in human brain tumors. (PubMed id 10974570)1, 9 Kim T.A....Avraham S. (2000)

    External Searches for ENC1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
    		PubMed
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    Genome Databases showing ENC1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8507 HGNC: 3345 AceView: ENC1 Ensembl:ENSG00000171617 euGenes: HUgn8507
    ECgene: ENC1 H-InvDB: ENC1

    Other Databases showing ENC1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ENC1 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 ENC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ENC1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for ENC1 gene

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

     
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