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Aliases for ENC1 Gene

Aliases for ENC1 Gene

  • Ectodermal-Neural Cortex 1 2 3
  • Ectodermal-Neural Cortex 1 (With BTB Domain) 2 3 5
  • Ectodermal-Neural Cortex 1 (With BTB-Like 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
  • 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 Signaling by GPCR and ERK Signaling. GO annotations related to this gene include actin binding. An important paralog of this gene is KBTBD4.

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

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

Genomics for ENC1 Gene

Regulatory Elements for ENC1 Gene

Promoters for ENC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ENC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ENC1 Gene

Chromosome:
5
Start:
74,627,406 bp from pter
End:
74,641,424 bp from pter
Size:
14,019 bases
Orientation:
Minus strand

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 StructureGene Density

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
    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

Proteomics data for ENC1 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ENC1 Gene

Domains & Families for ENC1 Gene

Gene Families for ENC1 Gene

Graphical View of Domain Structure for InterPro Entry

O14682

UniProtKB/Swiss-Prot:

ENC1_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Contains 6 Kelch repeats.
Domain:
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with ENC1: view

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.
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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ENC1 Gene COMPARTMENTS Subcellular localization image for ENC1 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 3
mitochondrion 2
golgi apparatus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ENC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS 9566959
GO:0005654 nucleoplasm IEA --
GO:0005737 cytoplasm IDA 19424503
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 15983046
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with ENC1: view

Pathways & Interactions for ENC1 Gene

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

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
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

No Compound Related Data Available

Transcripts for ENC1 Gene

Unigene Clusters for ENC1 Gene

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

Inhibitory RNA Products

Flow Cytometry 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

mRNA expression in normal human tissues 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



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.
genes like me logo Genes that share expression patterns with ENC1: view

Protein tissue co-expression partners for ENC1 Gene

Primer Products

In Situ Assay Products

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 35
  • 99.26 (n)
  • 99.83 (a)
ENC1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ENC1 36
  • 100 (a)
OneToOne
ENC1 35
  • 91.74 (n)
  • 99.83 (a)
dog
(Canis familiaris)
Mammalia ENC1 35
  • 89.19 (n)
  • 99.83 (a)
ENC1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Enc1 36
  • 99 (a)
OneToOne
Enc1 16
Enc1 35
  • 90.32 (n)
  • 99.32 (a)
oppossum
(Monodelphis domestica)
Mammalia ENC1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENC1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enc1 35
  • 89.93 (n)
  • 99.49 (a)
chicken
(Gallus gallus)
Aves ENC1 36
  • 97 (a)
OneToOne
ENC1 35
  • 82.91 (n)
  • 97.11 (a)
lizard
(Anolis carolinensis)
Reptilia ENC1 36
  • 96 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2226 35
tropical clawed frog
(Silurana tropicalis)
Amphibia enc1 35
  • 79.23 (n)
  • 93.38 (a)
Str.6584 35
zebrafish
(Danio rerio)
Actinopterygii enc1 36
  • 88 (a)
OneToOne
enc1 35
LOC559101 35
  • 76.63 (n)
  • 88.79 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for ENC1:
  • 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

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 Sequence Context AA Info Type
rs16872126 - 74,635,719(+) TGGTG(A/C/G)TGAGT intron-variant, reference, missense
rs9176 -- 74,636,490(-) TGGAA(A/G)CAAAA intron-variant, utr-variant-5-prime
rs2021526 -- 74,637,753(+) AAAAA(A/C/T)ACGTG intron-variant
rs3776471 -- 74,631,458(+) CCCAC(C/T)TACCC intron-variant
rs3842030 -- 74,637,786(+) TGTGT(-/GTGTGTGT)ATTTT intron-variant

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

Variant ID Type Subtype PubMed ID
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)

Relevant External Links for ENC1 Gene

HapMap Linkage Disequilibrium report
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 1
- elite association - COSMIC cancer census association via MalaCards
Search ENC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ENC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENC1
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 T.-A. … Avraham S. (J. Cell Biol. 1998) 2 3 4 67
  2. The nuclear matrix protein, NRP/B, enhances Nrf2-mediated oxidative stress responses in breast cancer cells. (PMID: 17875699) Seng S. … Avraham S. (Cancer Res. 2007) 3 23
  3. The BTB domain of the nuclear matrix protein NRP/B is required for neurite outgrowth. (PMID: 16306221) Kim T.A. … Avraham S. (J. Cell. Sci. 2005) 3 23
  4. Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC- 1AS and identification of ENC-1 overexpression in hairy cell leukemia. (PMID: 15459180) Hammarsund M. … Corcoran M. (Hum. Mol. Genet. 2004) 3 23
  5. Up-regulation of the ectodermal-neural cortex 1 (ENC1) gene, a downstream target of the beta-catenin/T-cell factor complex, in colorectal carcinomas. (PMID: 11691783) Fujita M. … Nakamura Y. (Cancer Res. 2001) 3 23

Products for ENC1 Gene

Sources for ENC1 Gene

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