Aliases for ENC1 Gene
Aliases for ENC1 Gene
External Ids for ENC1 Gene
- HGNC: 3345
- Entrez Gene: 8507
- Ensembl: ENSG00000171617
- OMIM: 605173
- UniProtKB: O14682
Previous HGNC Symbols for ENC1 Gene
- NRPB
Previous GeneCards Identifiers for ENC1 Gene
- GC05M072727
- GC05M074156
- GC05M073961
- GC05M074007
- GC05M073958
- GC05M069128
- GC05M073923
Summaries 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENC1 Gene
Genomics for ENC1 Gene
GeneHancer (GH) Regulatory Elements 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 |
Regulatory Element Products
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
- Cytogenetic band:
-
- 5q13.3 by Ensembl
- 5q13.3 by Entrez Gene
- 5q13.3 by HGNC


RefSeq DNA sequence for ENC1 Gene
Proteins for ENC1 Gene
-
Protein details for ENC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14682-ENC1_HUMAN
- Recommended name:
- Ectoderm-neural cortex protein 1
- Protein Accession:
- O14682
- 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.
Protein Expression for ENC1 Gene
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:
Antibody Products
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-
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-
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Protein Products
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-
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Assay Products
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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
No data available for UniProtKB/Swiss-Prot for ENC1 Gene
Function for ENC1 Gene
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
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 19424503 |
Phenotypes for ENC1 Gene
- MGI mutant phenotypes for ENC1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ENC1:
-
- Increased viability
- Increased gamma-H2AX phosphorylation
- Mildly decreased CFP-tsO45G cell surface transport
- Lamellipodia cells
- Increased shRNA abundance (Z-score > 2)
- Decreased viability ratio
- Increased transferrin (TF) endocytosis
- Decreased homologous recombination repair frequency
- Decreased shRNA abundance (Z-score < -2)
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Increased cilium length after serum starvation
- Decreased viability with TRAIL
- Decreased HIV-1 infection
Animal Models for ENC1 Gene
- MGI Knock Outs for ENC1:
-
- Enc1 tm1a(EUCOMM)Wtsi
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-
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CRISPR Products
-
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-
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miRNA for ENC1 Gene
- miRTarBase miRNAs that target ENC1
miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ENC1
- genomics-online: cdna clones - Search results for available ENC1 gene related products
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-
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Cell Line Products
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-
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-
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-
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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.
- Plasma membrane (1)
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 |
Pathways & Interactions for ENC1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | WNT Signaling |
Pathways by source for ENC1 Gene
1 Qiagen pathway for ENC1 Gene
Interacting Proteins 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 |
No data available for SIGNOR curated interactions for ENC1 Gene
Transcripts for ENC1 Gene
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:
CRISPR Products
-
OriGene CRISPR knockouts for ENC1
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ENC1
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miRNA Products
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Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ENC1
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-
ViGene Biosciences ready-to-package AAV shRNAs for ENC1 gene
Clone Products
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- VectorBuilder custom plasmid, inducible vectors for ENC1
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ENC1
- genomics-online: cdna clones - Search results for available ENC1 gene related products
- orf clones - Search results for available ENC1 gene related products
- Applied Biological Materials Clones for ENC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||
SP2: | - | ||||||||||||||||||
SP3: | |||||||||||||||||||
SP4: | - | - | - | - |
Expression for ENC1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Brain (Nervous System)
-
Heart (Cardiovascular System)
- Endocardial Tube Cells Endocardium
- Cushion Mesenchymal Cells Endocardium
- Cardiac Fibroblasts Myocardium
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
-
Testis (Reproductive System)
- Testicular Interstitial Cells Testis Interstitium
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
- Intermediate Mesoderm (Gastrulation Derivatives)
- Kidney (Urinary System)
- Bone (Muscoskeletal System)
- Thymus (Hematopoietic System)
- Endoderm (Gastrulation Derivatives)
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for ENC1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ENC1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ENC1 Gene:
ENC1SOURCE GeneReport for Unigene cluster for ENC1 Gene:
Hs.104925mRNA Expression by UniProt/SwissProt for ENC1 Gene:
O14682-ENC1_HUMANEvidence on tissue expression from TISSUES for ENC1 Gene
- Nervous system(5)
- Muscle(4.3)
- Intestine(3.2)
Primer Products
-
OriGene qPCR primer pairs for ENC1
-
OriGene qPCR primer pairs and template standards for ENC1
- genomics-online: primer clones - Search results for available ENC1 gene related 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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ENC1 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | ENC1 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | ENC1 34 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | ENC1 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Enc1 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Enc1 33 |
|
||
dog (Canis familiaris) |
Mammalia | ENC1 33 34 |
|
||
chicken (Gallus gallus) |
Aves | ENC1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | ENC1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | enc1 33 |
|
||
Str.6584 33 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2226 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | enc1 33 34 |
|
||
LOC559101 33 |
|
||||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for ENC1 Gene
Paralogs for ENC1 Gene
(20) SIMAP similar genes for ENC1 Gene using alignment to 4 proteins:
Variants 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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3570192 | CNV | loss | 25503493 |
nsv830351 | CNV | loss | 17160897 |
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
Disorder | Aliases | PubMed IDs |
---|---|---|
neuroblastoma |
|
|
Additional Disease Information for ENC1
No data available for UniProtKB/Swiss-Prot and Genatlas for ENC1 Gene
Publications for ENC1 Gene
- 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
- A model for p53-induced apoptosis. (PMID: 9305847) Polyak K … Vogelstein B (Nature 1997) 2 3 4 58
- Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PMID: 19424503) Wang XJ … Zhang DD (PloS one 2009) 3 4 58
- 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
- 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
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ENC1
- antibodies-online: Search results for 62 available ENC1 Antibodies ranked by validation data
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Sources for ENC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
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