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ENC1 Gene

protein-coding GIFtS: 57
GCID: GC05M073923

Ectodermal-Neural Cortex 1 (With BTB Domain)

(Previous name: ectodermal-neural cortex 1 (with BTB-like domain))
(Previous symbol: NRPB)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ectodermal-Neural Cortex 1 (With BTB Domain)¹ ²		P53-Induced Gene 10 Protein² ³
NRPB¹ ² ³		CCL28²
PIG10² ³ ⁵		KLHL35²
Ectodermal-Neural Cortex 1 (With BTB-Like Domain)¹ ²		TP53I10²
Kelch-Like Family Member 37¹ ²		Ectoderm-Neural Cortex Protein 1²
Kelch-Like Protein 37² ³		Kelch-Like 35²
Nuclear Matrix Protein NRP/B² ³		Nuclear Restricted Protein, BTB Domain-Like (Brain)²
ENC-1² ³		Tumor Protein P53 Inducible Protein 10²
KLHL37² ³

External Ids:	HGNC: 3345¹	Entrez Gene: 8507²	Ensembl: ENSG00000171617⁷	OMIM: 605173⁵	UniProtKB: O14682³

ORGUL members:

Export aliases for ENC1 gene to outside databases

Previous GC identifers: GC05M072727 GC05M074156 GC05M073961 GC05M074007 GC05M073958 GC05M069128

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (with BTB domain)) is a protein-coding gene. GO annotations related to this gene include actin binding. An important paralog of this gene is KLHL21.

UniProtKB/Swiss-Prot: ENC1_HUMAN, O14682

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

Gene Wiki entry for ENC1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000005.9 NC_018916.2 NT_034772.7

Regulatory elements:

Regulatory transcription factor binding sites in the ENC1 gene promoter:
GR Max1 GR-beta Nkx2-5 GATA-1 AREB6 POU2F1a STAT3 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ENC1 promoter sequence

Search Chromatin IP Primers for ENC1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q13 Ensembl cytogenetic band: 5q13.3 HGNC cytogenetic band: 5q13

ENC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ENC1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M073923: view genomic region (about GC identifiers)

Start:	73,923,234 bp from pter	End:	73,937,249 bp from pter
Size:	14,016 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ENC1_HUMAN, O14682 (See protein sequence)

Recommended Name: Ectoderm-neural cortex protein 1

Size: 589 amino acids; 66130 Da

Subunit: 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

Developmental stage: Dramatically up-regulated upon neuronal differentiation

Secondary accessions: B4DHJ1 E9PFU0 O75464 Q9UPG9

Alternative splicing: 2 isoforms: O14682-1 O14682-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ENC1: NX_O14682

Explore proteomics data for ENC1 at MOPED

Post-translational modifications:

Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for

proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See ENC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts):

NP_001243503.1 NP_001243504.1 NP_001243505.1 NP_003624.1

ENSEMBL proteins:

ENSP00000306356 ENSP00000423804 ENSP00000422943 ENSP00000426889 ENSP00000446289

ENC1 Human Recombinant Protein Products:

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	Novus Biologicals ENC1 Proteins Novus Biologicals ENC1 Lysate
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	antibodies-online proteins for ENC1 (6 products)
	antibodies-online peptides for ENC1

ENC1 Antibody Products:

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	antibodies-online antibodies for ENC1 (46 products)

ENC1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	Cloud-Clone Corp. ELISAs for ENC1 Cloud-Clone Corp. CLIAs for ENC1
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	antibodies-online kits for ENC1 (2 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

BTBD: BTB/POZ domain containing

KLHL: Kelch-like

Selected InterPro protein domains (see all 7):

IPR006652 Kelch_1

IPR011333 BTB/POZ_fold

IPR017096 Kelch-like_gigaxonin-typ

IPR013069 BTB_POZ

IPR011705 BACK

Graphical View of Domain Structure for InterPro Entry O14682

ProtoNet protein and cluster: O14682

2 Blocks protein domains:

IPB000210 BTB/POZ domain

IPB011705 BTB/Kelch-associated

UniProtKB/Swiss-Prot: ENC1_HUMAN, O14682

Similarity: Contains 1 BTB (POZ) domain

Similarity: Contains 6 Kelch repeats

Find genes that share domains with ENC1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: ENC1_HUMAN, O14682

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

Induction: By p53/TP53

Genatlas biochemistry entry for ENC1:

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

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005515	protein binding	IPI	19424503

Find genes that share ontologies with ENC1 About GenesLikeMe

Phenotypes:
4 GenomeRNAi human phenotypes for ENC1:

Big cells

Decreased cilium length after

Increased cell death in breast

Increased gamma-H2AX phosphory

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for ENC1

miRNA Products:		miRTarBase miRNAs that target ENC1: hsa-mir-505-5p (MIRT037951), hsa-mir-215-5p (MIRT024264), hsa-mir-192-5p (MIRT026945)

		Block miRNA regulation of human, mouse, rat ENC1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate ENC1 (see all 76):
		hsa-miR-549 hsa-miR-607 hsa-miR-938 hsa-miR-3653 hsa-miR-4275 hsa-miR-149 hsa-miR-298 hsa-miR-2113

		SwitchGear 3'UTR luciferase reporter plasmid: ENC1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for ENC1
		Predesigned siRNA for gene silencing in human, mouse, rat ENC1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ENC1

Clone Products:		OriGene clones in human, mouse for ENC1 (see all 7) OriGene ORF clones in mouse, rat for ENC1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ENC1 (NM_003633)
		Sino Biological Human cDNA Clone for ENC1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENC1
		Addgene plasmids for ENC1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ENC1
		Browse ESI BIO Cell Lines and PureStem Progenitors for ENC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENC1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

ENC1_HUMAN, O14682: Nucleus matrix. Cytoplasm. Cytoplasm, cytoskeleton

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
nucleus	5
cytosol	3
mitochondrion	2
golgi apparatus	1
peroxisome	1
plasma membrane	1

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Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	9566959
GO:0005737	cytoplasm	IDA	19424503
GO:0005856	cytoskeleton	IEA	--
GO:0016363	nuclear matrix	IEA	--
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	15983046

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ENC1 About

See pathways by source

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SuperPath

Contained pathways About

WNT Signaling

WNT Signaling

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ENC1

WNT Signaling

Pathway & Disease-focused RT² Profiler PCR Array including ENC1:

Ubiquitin Ligases in human mouse rat

Interactions:

GeneGlobe Interaction Network for ENC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

Selected Interacting proteins for ENC1 (O14682³ ENSP00000306356⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CUL3	Q13618³, ENSP00000264414⁴	I2D: score=1 STRING: ENSP00000264414
RBX1	P62877³, ENSP00000216225⁴	I2D: score=1 STRING: ENSP00000216225
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
RB1	P06400³, ENSP00000267163⁴	I2D: score=3 STRING: ENSP00000267163
TGFBR1	P36897³, ENSP00000364133⁴	I2D: score=3 STRING: ENSP00000364133

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Gene Ontology (GO): 5 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007275	multicellular organismal development	TAS	9566959
GO:0007399	nervous system development	TAS	9566959
GO:0010499	proteasomal ubiquitin-independent protein catabolic process	IDA	19424503
GO:0016567	protein ubiquitination	IDA	15983046
GO:0017148	negative regulation of translation	IDA	19424503

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for ENC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ENC1 gene (4 alternative transcripts):

NM_001256574.1 NM_001256575.1 NM_001256576.1 NM_003633.3

Unigene Cluster for ENC1:

Ectodermal-neural cortex 1 (with BTB domain)

Hs.104925 [show with all ESTs]

Unigene Representative Sequence: BT007392

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000302351(uc003kdc.4) ENST00000510316(uc011css.2) ENST00000509284

ENST00000508331 ENST00000509127 ENST00000537006

miRNA Products:		Block miRNA regulation of human, mouse, rat ENC1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate ENC1 (see all 76):
		hsa-miR-549 hsa-miR-607 hsa-miR-938 hsa-miR-3653 hsa-miR-4275 hsa-miR-149 hsa-miR-298 hsa-miR-2113

		SwitchGear 3'UTR luciferase reporter plasmid: ENC1 3' UTR sequence

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		Predesigned siRNA for gene silencing in human, mouse, rat ENC1

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		GenScript: all cDNA clones in your preferred vector: ENC1 (NM_003633)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENC1
		Addgene plasmids for ENC1

Primer Products:		OriGene qPCR primer pairs and template standards for ENC1 OriGene qSTAR qPCR primer pairs in human, mouse for ENC1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat ENC1
		QuantiTect SYBR Green Assays in human, mouse, rat ENC1
		QuantiFast Probe-based Assays in human, mouse, rat ENC1

Additional mRNA sequence: BT007392.1

9 DOTS entries:

DT.75151032 DT.454436 DT.97849190 DT.100789222 DT.100789223 DT.100789220 DT.95333353 DT.120814505

DT.95333354

Selected AceView cDNA sequences (see all 462):

BM552340 AA904092 BG059641 AW576802 AU120246 AA443479 BM312731 BX116607

BM981783 CR602279 CA421257 BQ432453 H51876 BM724535 BM468706 BQ961595

BM562935 CN483170 AW901779 AW576800 CB243781 BM476137 BM312422 H83913

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ENC1 About this scheme

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

ECgene alternative splicing isoforms for ENC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ENC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTCATATGTA

About this image

ENC1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 11) fully expand


Neural Tube (Nervous System) fully expand to see all 5 entries
Metencephalon
Floor plate-like cells

Heart (Cardiovascular System) fully expand to see all 3 entries
Cardiac Fibroblasts Myocardium

Brain (Nervous System) fully expand to see all 3 entries
Midbrain tegmentum

Thymus (Hematopoietic System)
Thymus

NULL (Uncategorized)
Mesoderm-like cells

ENC1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ENC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.104925

UniProtKB/Swiss-Prot: ENC1_HUMAN, O14682

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

Pathway & Disease-focused RT² Profiler PCR Array including ENC1:

Ubiquitin Ligases in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for ENC1 OriGene qSTAR qPCR primer pairs in human, mouse for ENC1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat ENC1
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for ENC1 gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Enc1^{1 , 5}	ectodermal-neural cortex 1^{1, 5}	90.32(n)¹ 99.32(a)¹		13 (50.66 cM)⁵ 13803¹ NM_007930.4¹ NP_031956.3¹ 97241105⁵
chicken (Gallus gallus)	Aves	ENC1¹	ectodermal-neural cortex 1 (with BTB-like domain)	82.91(n) 97.11(a)		427203 XM_004937360.1 XP_004937417.1
lizard (Anolis carolinensis)	Reptilia	ENC1⁶	Uncharacterized protein	96(a)	1 ↔ 1	2(15235708-15237477)
African clawed frog (Xenopus laevis)	Amphibia	Xl.2226²	Xenopus laevis ectoderm neural cortex related-3 (Encr-3) more	79.89(n)		AY216793.1
zebrafish (Danio rerio)	Actinopterygii	enc1²	ectodermal-neural cortex (with BTB-like domain)	76.14(n)		327531 BC045427.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ENC1 gene

KLHL21² KLHL6² KBTBD8² KLHL41² KBTBD12² KBTBD2² KLHL24² KLHL38²

KLHL29² KBTBD3² KLHL23² KLHL40² KBTBD7² KLHL30² KBTBD6² KLHL25²

KLHL35²

Selected SIMAP similar genes for ENC1 using alignment to 4 protein entries: ENC1_HUMAN (see all proteins) (see all similar genes):

KLHL25 KBTBD3 KLHL32 KLHL17 KLHL20 KLHL3

KLHL5 KLHL24 KLHL4 KLHL23 KLHL1 KLHL12

KLHL2 KLHL28 KLHL38 KLHL6 KLHL29 KLHL18

Find genes that share paralogs with ENC1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs3842030^1,2	C	--	69138432(+)	`TGTGT-/GT/G TGTGTGTATTTT`	5	--	int¹		0	--	--	--	--
rs112211395^1,2	C,F	--	73922976(+)	`CTTAAT/CATCGC`	5	--	ds500¹		2		CSA WA	120
rs76226232^1,2	C,F	--	73923058(+)	`ATACTC/GTAATG`	5	--	ds500¹		1		WA	118
rs35547049^1,2	C,F	--	73923134(+)	`ACGTTC/TGGAAT`	5	--	ds500¹		4		NA	126
rs6864203^1,2	C,H	--	73923142(+)	`AATATC/TTGAAA`	5	--	ds500¹		4		NS EA	420
rs144442801^1,2		--	73923167(+)	`ATAAAC/TGAGAA`	5	--	ds500¹		0	--	--	--	--
rs184988547^1,2		--	73923251(+)	`CTCTAA/GTAATT`	5	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs113669142^1,2	C	--	73923260(+)	`TTTATC/TGACCT`	5	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs139423358^1,2	C	--	73923341(+)	`AGTACA/CTATGA`	5	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs76287955^1,2	C,F	--	73923399(+)	`CATGGT/CCAATA`	5	--	ut3¹ nc-transcript-variant		1		EA	120

HapMap Linkage Disequilibrium report for ENC1 (73923234 - 73937249 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for ENC1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv830351	CNV	Loss	17160897

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 605173 OMIM disorders: --

Find genes that share disorders with ENC1 About GenesLikeMe

1 Novoseek inferred disease relationship for ENC1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
colon cancer	36.9	3	11691783 (3)

Export disorders for ENC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ENC1 gene, integrated from 10 sources (see all 32):
(articles sorted by number of sources associating them with ENC1)

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NRP/B, a novel nuclear matrix protein, associates with p110(RB) and is involved in neuronal differentiation. (PubMed id 9566959)^{1, 2, 3} Kim T.-A....Avraham S. (J. Cell Biol. 1998)
A model for p53-induced apoptosis. (PubMed id 9305847)^{1, 2, 3} Polyak K.... Vogelstein B. (Nature 1997)
Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PubMed id 19424503)^{1, 2} Wang X.J. and Zhang D.D. (PLoS ONE 2009)
Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway. (PubMed id 15983046)^{1, 2} Zhang D.D.... Hannink M. (J. Biol. Chem. 2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Cloning of human ENC-1 and evaluation of its expression and regulation in nervous system tumors. (PubMed id 9683534)^{1, 2} Hernandez M.-C.... Israel M.A. (Exp. Cell Res. 1998)
Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC- 1AS and identification of ENC-1 overexpression in hairy cell leukemia. (PubMed id 15459180)^{1, 9} Hammarsund M.... Corcoran M. (Hum. Mol. Genet. 2004)
Up-regulation of the ectodermal-neural cortex 1 (ENC1) gene, a downstream target of the beta-catenin/T-cell factor complex, in colorectal carcinomas. (PubMed id 11691783)^{1, 9} Fujita M....Nakamura Y. (Cancer Res. 2001)
The BTB domain of the nuclear matrix protein NRP/B is required for neurite outgrowth. (PubMed id 16306221)^{1, 9} Kim T.A....Avraham S. (J. Cell. Sci. 2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8507	HGNC: 3345	AceView: ENC1	Ensembl:ENSG00000171617	euGenes: HUgn8507
ECgene: ENC1	H-InvDB: ENC1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ENC1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ENC1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for ENC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ENC1 gene:
Search GeneIP for patents involving ENC1

GeneCards and IP:
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ENC1 Gene

Ectodermal-Neural Cortex 1 (With BTB Domain)

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ENC1 Gene

Ectodermal-Neural Cortex 1 (With BTB Domain)

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