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ENC1 Gene(Protein Coding)

Ectodermal-Neural Cortex 1

GCID:
GC05M074627
GIFtS:
46
Genes Participants
UDN Logo

Aliases for ENC1 Gene

Aliases for ENC1 Gene

  • Ectodermal-Neural Cortex 1 2 3 5
  • Ectodermal-Neural Cortex 1 (With BTB-Like Domain) 2 3
  • Ectodermal-Neural Cortex 1 (With BTB Domain) 2 3
  • Nuclear Matrix Protein NRP/B 3 4
  • Kelch-Like Family Member 37 2 3
  • P53-Induced Gene 10 Protein 3 4
  • Kelch-Like Protein 37 3 4
  • KLHL37 3 4
  • ENC-1 3 4
  • PIG10 3 4
  • NRPB 3 4
  • Nuclear Restricted Protein, BTB Domain-Like (Brain) 3
  • Tumor Protein P53 Inducible Protein 10 3
  • Ectoderm-Neural Cortex Protein 1 3
  • Kelch-Like 35 3
  • TP53I10 3
  • KLHL35 3
  • CCL28 3

External Ids for ENC1 Gene

Previous HGNC Symbols for ENC1 Gene

  • NRPB

Previous GeneCards Identifiers for ENC1 Gene

  • GC05M072727
  • GC05M074156
  • GC05M073961
  • GC05M074007
  • GC05M073958
  • GC05M069128
  • GC05M073923

Summaries for ENC1 Gene

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) is a Protein Coding gene. Diseases associated with ENC1 include Neuroblastoma. Among its related pathways are WNT Signaling. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is KLHL25.

UniProtKB/Swiss-Prot for ENC1 Gene

  • 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

Additional gene information for ENC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENC1 Gene

Genomics for ENC1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ENC1 Gene

Promoters and enhancers for ENC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH05I074635 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 586.7 +1.4 1419 9.1 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENC1 HEXB RPS26P26 LINC01331
GH05I074624 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 39.7 +12.3 12328 10.1 HDGF FOXA2 SMAD1 ARNT NEUROD1 SIN3A FEZF1 IRF4 ZNF766 ZNF213 ENC1 ENSG00000272040 RPS26P26 FAM169A HEXB LINC01331
GH05I074621 Enhancer 0.7 ENCODE 39.6 +18.8 18845 1.4 PKNOX1 SMAD1 BACH1 EBF1 BMI1 BATF IRF4 RELA ATF7 IKZF2 ENC1 HEXB LINC01331
GH05I074648 Enhancer 1.1 Ensembl ENCODE dbSUPER 24.4 -7.7 -7653 0.6 CTCF RB1 ARID4B ZNF2 RAD21 TEAD3 ZNF335 ZNF664 ZBTB48 ARID2 ENC1 HEXB GC05M074726 RNU6-658P
GH05I074575 Enhancer 1 Ensembl ENCODE 26.3 +64.9 64906 2.6 FOXA2 INSM2 SIN3A BATF IRF4 RAD21 FOS BCLAF1 IKZF2 RUNX3 ENC1 LINC01331 HEXB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ENC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENC1 gene promoter:

Genomic Locations for ENC1 Gene

Genomic Locations for ENC1 Gene
chr5:74,627,406-74,641,424
(GRCh38/hg38)
Size:
14,019 bases
Orientation:
Minus strand
chr5:73,923,234-73,937,249
(GRCh37/hg19)

Genomic View for ENC1 Gene

Genes around ENC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENC1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ENC1 Gene

Proteins for ENC1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ENC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14682-ENC1_HUMAN
    Recommended name:
    Ectoderm-neural cortex protein 1
    Protein Accession:
    O14682
    Secondary Accessions:
    • B4DHJ1
    • E9PFU0
    • O75464
    • Q9UPG9

    Protein attributes for ENC1 Gene

    Size:
    589 amino acids
    Molecular mass:
    66130 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for ENC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENC1 Gene

Protein Expression for ENC1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ENC1 Gene

  • 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.

Other Protein References for ENC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ENC1 Gene

Domains & Families for ENC1 Gene

Gene Families for ENC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for ENC1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ENC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ENC1: view

No data available for UniProtKB/Swiss-Prot for ENC1 Gene

Function for ENC1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ENC1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By p53/TP53.

Phenotypes From GWAS Catalog for ENC1 Gene

Gene Ontology (GO) - Molecular Function for ENC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 19424503
genes like me logo Genes that share ontologies with ENC1: view
genes like me logo Genes that share phenotypes with ENC1: view

Animal Models for ENC1 Gene

MGI Knock Outs for ENC1:
  • Enc1 tm1a(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ENC1 Gene

Localization for ENC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENC1 Gene

Nucleus matrix. Cytoplasm. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENC1 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 3
mitochondrion 2
plasma membrane 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0005634 nucleus TAS 9566959
GO:0005654 nucleoplasm IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA,IDA 19424503
genes like me logo Genes that share ontologies with ENC1: view

Pathways & Interactions for ENC1 Gene

SuperPathways for ENC1 Gene

PathCards logo More details on SuperPathways for ENC1
SuperPathway Contained pathways
1 WNT Signaling
WNT Signaling
-
genes like me logo Genes that share pathways with ENC1: view

Pathways by source for ENC1 Gene

1 Qiagen pathway for ENC1 Gene

Gene Ontology (GO) - Biological Process for ENC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development TAS 9566959
GO:0007399 nervous system development TAS 9566959
GO:0010499 proteasomal ubiquitin-independent protein catabolic process IDA 19424503
GO:0010976 positive regulation of neuron projection development IEA --
GO:0016567 protein ubiquitination IDA 15983046
genes like me logo Genes that share ontologies with ENC1: view

No data available for SIGNOR curated interactions for ENC1 Gene

Drugs & Compounds for ENC1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ENC1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ENC1 Gene

(6) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(462) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ENC1 Gene

Ectodermal-neural cortex 1 (with BTB domain):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENC1 Gene

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

Relevant External Links for ENC1 Gene

GeneLoc Exon Structure for
ENC1
ECgene alternative splicing isoforms for
ENC1

Expression for ENC1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENC1 Gene

mRNA expression in normal human tissues for ENC1 Gene
mRNA expression by BioGPS for ENC1 GenemRNA expression by GTEx for ENC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENC1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.0), Brain - Anterior cingulate cortex (BA24) (x8.6), Brain - Cortex (x7.5), Brain - Hippocampus (x5.5), and Brain - Amygdala (x5.4).

Protein differential expression in normal tissues from HIPED for ENC1 Gene

This gene is overexpressed in Lung (62.5) and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ENC1 Gene



Protein tissue co-expression partners for ENC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ENC1 Gene:

ENC1

SOURCE GeneReport for Unigene cluster for ENC1 Gene:

Hs.104925

mRNA Expression by UniProt/SwissProt for ENC1 Gene:

O14682-ENC1_HUMAN
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.

Evidence on tissue expression from TISSUES for ENC1 Gene

  • Nervous system(5)
  • Muscle(4.3)
  • Intestine(3.2)
genes like me logo Genes that share expression patterns with ENC1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ENC1 Gene

Orthologs for ENC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ENC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ENC1 33 34
  • 99.26 (n)
oppossum
(Monodelphis domestica)
 Mammalia ENC1 34
  • 98 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ENC1 34
  • 98 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ENC1 33 34
  • 91.74 (n)
mouse
(Mus musculus)
 Mammalia Enc1 33 16 34
  • 90.32 (n)
rat
(Rattus norvegicus)
 Mammalia Enc1 33
  • 89.93 (n)
dog
(Canis familiaris)
 Mammalia ENC1 33 34
  • 89.19 (n)
chicken
(Gallus gallus)
 Aves ENC1 33 34
  • 82.91 (n)
lizard
(Anolis carolinensis)
 Reptilia ENC1 34
  • 96 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia enc1 33
  • 79.23 (n)
Str.6584 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.2226 33
zebrafish
(Danio rerio)
 Actinopterygii enc1 33 34
  • 88 (a)
LOC559101 33
  • 76.63 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 33 (a)
 OneToMany
Species where no ortholog for ENC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ENC1 Gene

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

Paralogs for ENC1 Gene

Paralogs for ENC1 Gene

(20) SIMAP similar genes for ENC1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ENC1: view

Variants for ENC1 Gene

Sequence variations from dbSNP and Humsavar for ENC1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000043316 -- 74,630,556(-) C/T intron_variant
rs1000055772 -- 74,634,442(-) A/G intron_variant
rs1000085521 -- 74,641,939(-) A/C upstream_transcript_variant
rs1000152309 -- 74,628,949(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1000163647 -- 74,628,505(-) A/G 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ENC1 Gene

Variant ID Type Subtype PubMed ID
esv3570192 CNV loss 25503493
nsv830351 CNV loss 17160897

Variation tolerance for ENC1 Gene

Residual Variation Intolerance Score: 7.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENC1 Gene

Disorders for ENC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search ENC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ENC1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ENC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENC1 Gene

Publications for ENC1 Gene

  1. NRP/B, a novel nuclear matrix protein, associates with p110(RB) and is involved in neuronal differentiation. (PMID: 9566959) Kim TA … Avraham S (The Journal of cell biology 1998) 2 3 4 58
  2. A model for p53-induced apoptosis. (PMID: 9305847) Polyak K … Vogelstein B (Nature 1997) 2 3 4 58
  3. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PMID: 19424503) Wang XJ … Zhang DD (PloS one 2009) 3 4 58
  4. The nuclear matrix protein, NRP/B, enhances Nrf2-mediated oxidative stress responses in breast cancer cells. (PMID: 17875699) Seng S … Avraham S (Cancer research 2007) 3 22 58
  5. Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway. (PMID: 15983046) Zhang DD … Hannink M (The Journal of biological chemistry 2005) 3 4 58

Products for ENC1 Gene

  • Addgene plasmids for ENC1

Sources for ENC1 Gene

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