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

Summary

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: mouse all
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Genomic context

Location:: 5q13.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (74627409..74640728, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (75108382..75121693, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (73923234..73936553, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The emerging role of ectodermal neural cortex 1 in cancer.
Title: The emerging role of ectodermal neural cortex 1 in cancer.
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.
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.
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.
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.
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.
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.
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.
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.
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)

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

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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

D5S1949E (e-PCR)
- UniSTS:473366

D5S1939 (e-PCR)
- UniSTS:154193

RH48110 (e-PCR)
- UniSTS:74185

D5S2420 (e-PCR)
- UniSTS:55536

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
located_in 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)

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
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
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
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

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

74627409..74640728 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_060929.1 Alternate T2T-CHM13v2.0

Range

75108382..75121693 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B4DHJ1, E9PFU0, O14682, O75464, Q9UPG9

UniProtKB/TrEMBL

Q53XS2
XM_054353726.1 → XP_054209701.1 ectoderm-neural cortex protein 1 isoform X1

UniProtKB/Swiss-Prot

B4DHJ1, E9PFU0, O14682, O75464, Q9UPG9

UniProtKB/TrEMBL

Q53XS2