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ENC1 ectodermal-neural cortex 1 [ Homo sapiens (human) ]

Gene ID: 8507, updated on 3-Apr-2024

Summary

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Official Symbol
ENC1provided by HGNC
Official Full Name
ectodermal-neural cortex 1provided by HGNC
Primary source
HGNC:HGNC:3345
See related
Ensembl:ENSG00000171617 MIM:605173; AllianceGenome:HGNC:3345
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NRPB; CCL28; ENC-1; PIG10; KLHL35; KLHL37; TP53I10
Summary
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]
Expression
Biased expression in brain (RPKM 180.1), gall bladder (RPKM 11.8) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
5q13.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (74627409..74640728, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75108382..75121693, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (73923234..73936553, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22667 Neighboring gene NANOG hESC enhancer GRCh37_chr5:73811827-73812386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73838511-73839072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22669 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1766 Neighboring gene Sharpr-MPRA regulatory region 12094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:73906972-73907472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:73907473-73907973 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:73920707-73921208 Neighboring gene uncharacterized LOC124901005 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:73921209-73921708 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:73926734-73927547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73936823-73937538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73937539-73938252 Neighboring gene Sharpr-MPRA regulatory region 10699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22671 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:73973961-73974139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:73980770-73981270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22674 Neighboring gene hexosaminidase subunit beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74001994-74002494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74002495-74002995 Neighboring gene RNA, U6 small nuclear 658, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22675 Neighboring gene GTP dependent ribosome recycling factor mitochondrial 2 Neighboring gene RNA, U6 small nuclear 1330, pseudogene Neighboring gene family with sequence similarity 169 member A Neighboring gene NSA2 ribosome biogenesis factor

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Aberrant super-enhancer-driven oncogene ENC1 promotes the radio-resistance of breast carcinoma. Li L, et al. Cell Death Dis, 2021 Aug 6. PMID 34362881, Free PMC Article
  2. Ectodermal‑neural cortex 1 affects the biological function of lung cancer through the MAPK pathway. Wu C, et al. Int J Mol Med, 2021 May. PMID 33693958, Free PMC Article
  3. Ectodermal-neural cortex 1 as a novel biomarker predicts poor prognosis and induces metastasis in breast cancer by promoting Wnt/β-catenin pathway. Zhou Y, et al. J Cell Mol Med, 2020 Aug. PMID 32618411, Free PMC Article
  4. Low expression of ENC1 predicts a favorable prognosis in patients with ovarian cancer. Fan S, et al. J Cell Biochem, 2019 Jan. PMID 30125994
  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. Fujita M, et al. Cancer Res, 2001 Nov 1. PMID 11691783

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The emerging role of ectodermal neural cortex 1 in cancer.
    Title: The emerging role of ectodermal neural cortex 1 in cancer.
  2. The LOXL1 antisense RNA 1 (LOXL1-AS1)/microRNA-423-5p (miR-423-5p)/ectodermal-neural cortex 1 (ENC1) axis promotes cervical cancer through the mitogen-activated protein kinase (MEK)/extracellular signal-regulated kinase (ERK) pathway.
    Title: The LOXL1 antisense RNA 1 (LOXL1-AS1)/microRNA-423-5p (miR-423-5p)/ectodermal-neural cortex 1 (ENC1) axis promotes cervical cancer through the mitogen-activated protein kinase (MEK)/extracellular signal-regulated kinase (ERK) pathway.
  3. Aberrant super-enhancer-driven oncogene ENC1 promotes the radio-resistance of breast carcinoma.
    Title: Aberrant super-enhancer-driven oncogene ENC1 promotes the radio-resistance of breast carcinoma.
  4. Ectodermalneural cortex 1 affects the biological function of lung cancer through the MAPK pathway.
    Title: Ectodermal‑neural cortex 1 affects the biological function of lung cancer through the MAPK pathway.
  5. Ectodermal-neural cortex 1 as a novel biomarker predicts poor prognosis and induces metastasis in breast cancer by promoting Wnt/beta-catenin pathway.
    Title: Ectodermal-neural cortex 1 as a novel biomarker predicts poor prognosis and induces metastasis in breast cancer by promoting Wnt/β-catenin pathway.
  6. The low expression of ENC1 was associated with favorable prognosis in ovarian cancer patients. And the knockdown of ENC1 can significantly inhibit ovarian cancer cell proliferation, migration, and invasion.
    Title: Low expression of ENC1 predicts a favorable prognosis in patients with ovarian cancer.
  7. ENC1 interacts with the phosphorylated p62 to impair autophagic degradation of mutant huntingtin protein aggregates.
    Title: ENC1 Modulates the Aggregation and Neurotoxicity of Mutant Huntingtin Through p62 Under ER Stress.
  8. we identified ENC1 and UNC5C as genes with convergent genetic, epigenetic, and transcriptomic evidence supporting a potential role in the dissociation of cognition and neuropathology in an aging population.
    Title: Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data.
  9. ENC1 functions as a negative regulator of Nrf2 through suppressing Nrf2 protein translation.
    Title: Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level.
  10. NRP/B mutations impair Nrf2-dependent NQO1 induction in primary brain tumors.
    Title: NRP/B mutations impair Nrf2-dependent NQO1 induction in human primary brain tumors.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of ectodermal-neural cortex 1 (with BTB-like domain) (ENC1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ39259, FLJ57577

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of translation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
involved_in proteasomal ubiquitin-independent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteasomal ubiquitin-independent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of Cul3-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of chromatin IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear matrix IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
ectoderm-neural cortex protein 1
Names
ectodermal-neural cortex 1 (with BTB domain)
ectodermal-neural cortex 1 (with BTB-like domain)
kelch-like 35
kelch-like family member 37
kelch-like protein 37
nuclear matrix protein NRP/B
nuclear restricted protein, BTB domain-like (brain)
p53-induced gene 10 protein
tumor protein p53 inducible protein 10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001256574.2 → NP_001243503.1  ectoderm-neural cortex protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001243503.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC026405, BC000418, DA498140
    Consensus CDS
    CCDS4021.1
    UniProtKB/Swiss-Prot
    B4DHJ1, E9PFU0, O14682, O75464, Q9UPG9
    UniProtKB/TrEMBL
    Q53XS2, Q96L69
    Related
    ENSP00000479101.1, ENST00000618628.4
    Conserved Domains (2) summary
    sd00038
    Location:330 → 374
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:48 → 566
    BTB; Broad-Complex, Tramtrack and Bric a brac

  2. NM_001256575.2 → NP_001243504.1  ectoderm-neural cortex protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001243504.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC026405, BC000418, DA032687
    Consensus CDS
    CCDS4021.1
    UniProtKB/Swiss-Prot
    B4DHJ1, E9PFU0, O14682, O75464, Q9UPG9
    UniProtKB/TrEMBL
    Q53XS2, Q96L69
    Conserved Domains (2) summary
    sd00038
    Location:330 → 374
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:48 → 566
    BTB; Broad-Complex, Tramtrack and Bric a brac

  3. NM_001256576.2 → NP_001243505.1  ectoderm-neural cortex protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC026405, AK295128, BT007392
    Consensus CDS
    CCDS58958.1
    UniProtKB/TrEMBL
    Q96L69
    Related
    ENSP00000423804.1, ENST00000510316.5
    Conserved Domains (5) summary
    smart00612
    Location:316 → 368
    Kelch; Kelch domain
    sd00038
    Location:257 → 301
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:1 → 67
    BTB; BTB/POZ domain
    pfam01344
    Location:256 → 301
    Kelch_1; Kelch motif
    pfam07707
    Location:76 → 178
    BACK; BTB And C-terminal Kelch

  4. NM_003633.4 → NP_003624.1  ectoderm-neural cortex protein 1 isoform 1

    See identical proteins and their annotated locations for NP_003624.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the most abundant transcript. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC026405, BC000418
    Consensus CDS
    CCDS4021.1
    UniProtKB/Swiss-Prot
    B4DHJ1, E9PFU0, O14682, O75464, Q9UPG9
    UniProtKB/TrEMBL
    Q53XS2, Q96L69
    Related
    ENSP00000306356.4, ENST00000302351.9
    Conserved Domains (2) summary
    sd00038
    Location:330 → 374
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:48 → 566
    BTB; Broad-Complex, Tramtrack and Bric a brac

RNA

  1. NR_046318.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) is represented as non-coding because it lacks the coding exon found in variant 1.
    Source sequence(s)
    AC026405, DA785554

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    74627409..74640728 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543697.4 → XP_011541999.1  ectoderm-neural cortex protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011541999.1

    UniProtKB/Swiss-Prot
    B4DHJ1, E9PFU0, O14682, O75464, Q9UPG9
    UniProtKB/TrEMBL
    Q53XS2, Q96L69
    Conserved Domains (2) summary
    sd00038
    Location:330 → 374
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:48 → 566
    BTB; Broad-Complex, Tramtrack and Bric a brac

  2. XM_011543696.4 → XP_011541998.1  ectoderm-neural cortex protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011541998.1

    UniProtKB/Swiss-Prot
    B4DHJ1, E9PFU0, O14682, O75464, Q9UPG9
    UniProtKB/TrEMBL
    Q53XS2, Q96L69
    Related
    ENSP00000499185.1, ENST00000651128.1
    Conserved Domains (2) summary
    sd00038
    Location:330 → 374
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:48 → 566
    BTB; Broad-Complex, Tramtrack and Bric a brac

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    75108382..75121693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353727.1 → XP_054209702.1  ectoderm-neural cortex protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B4DHJ1, E9PFU0, O14682, O75464, Q9UPG9
    UniProtKB/TrEMBL
    Q53XS2

  2. XM_054353726.1 → XP_054209701.1  ectoderm-neural cortex protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B4DHJ1, E9PFU0, O14682, O75464, Q9UPG9
    UniProtKB/TrEMBL
    Q53XS2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14682.2 GenPept UniProtKB/Swiss-Prot:O14682

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