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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ENC1 Gene

protein-coding GIFtS: 56
GCID: GC05M073923

Ectodermal-Neural Cortex 1 (With BTB Domain)

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

7 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

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

Export aliases for ENC1 gene to outside databases

Previous GC identifers: GC05M072727 GC05M074156 GC05M073961 GC05M074007 GC05M073958 GC05M069128

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with ENC1 include hairy cell leukemia, and t-cell leukemia. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.2 NT_006713.15

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for ENC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

Subcellular location: Nucleus matrix. Cytoplasm. Cytoplasm, cytoskeleton

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:

UniProtKB: 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

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_O14682

ENC1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (4 alternative transcripts):

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

ENSEMBL proteins:

ENSP00000306356 ENSP00000423804 ENSP00000422943 ENSP00000426889 ENSP00000446289

Human Recombinant Protein Products for ENC1:

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	Cloud-Clone Corp. Proteins for ENC1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): 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

ENC1 for ontologies About GeneDecksing

ENC1 Antibody Products:

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	Cloud-Clone Corp. ELISAs for ENC1 Cloud-Clone Corp. CLIAs for ENC1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

BTBD: BTB/POZ domain containing

KLHL: Kelch-like

5/7 InterPro protein domains (see all 7):

IPR006652 Kelch_1

IPR011333 BTB/POZ_fold

IPR017096 Kelch-like_gigaxonin

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

ENC1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): About this table

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

ENC1 for ontologies About GeneDecksing

Phenotypes:
4 GenomeRNAi human phenotypes for ENC1:

Big cells

Decreased cilium length after

Increased cell death in breast

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for ENC1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ENC1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ENC1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ENC1

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ENC1
		8/76 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: ENC1 (NM_003633)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ENC1
		Search LifeMap BioReagents cell lines for ENC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENC1

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for ENC1 About

See pathways by source

SuperPath

Contained pathways About

WNT Signaling

WNT Signaling

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ENC1

WNT Signaling

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ENC1

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

5/11 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

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): 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

ENC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ENC1

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ENC1 gene (4 alternative transcripts):

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

Unigene Clusters for ENC1:

Ectodermal-neural cortex 1 (with BTB domain)

Hs.104925 [show with all ESTs], Hs.744844 [show with all ESTs]

Unigene Representative Sequences: BT007392, NM_001256574

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

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

ENST00000508331 ENST00000509127 ENST00000537006

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ENC1
		8/76 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate 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
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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ENC1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENC1

Additional mRNA sequence:

AF005381.1 AF010314.1 AF059611.1 AK096578.1 AK295128.1 AK299624.1 AK312608.1 AY049781.1

BC000418.2 NR_046318.1

24/26 DOTS entries (see all 26):

DT.454436 DT.100789223 DT.97849190 DT.100789222 DT.75151032 DT.95333353 DT.120814291 DT.120814563

DT.100789220 DT.100650183 DT.120814326 DT.100679195 DT.97794504 DT.120814515 DT.75103411 DT.120814234

DT.75160747 DT.92450369 DT.120814253 DT.120814505 DT.120814585 DT.86841267 DT.92450366 DT.120814554

24/462 AceView cDNA sequences (see all 462):

W72085 BQ961595 CB155716 BE205795 AI811585 BU507586 BM476137 AA443479

AI537227 CB153497 BQ222370 AA904092 AW901779 AI498867 AI160228 Z44535

AW576802 AI250817 BF475821 BM724535 N41682 AU120246 F01670 CN483170

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ENC1 expression in normal human tissues (normalized intensities) ENC1 embryonic expression: see
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

5/30 selected tissues (see all 30) fully expand


Brain (Nervous System) fully expand to see all 29 entries
Thalamus
Human Hippocampal Astrocytes
Globus Pallidus

Heart (Cardiovascular System) fully expand to see all 4 entries
Cardiac Fibroblasts Myocardium
heart/ventricle

Lower Urinary Tract (Urinary System) fully expand to see all 4 entries
visceral organ

Neural Tube (Nervous System) fully expand to see all 4 entries
Telencephalon

Bone (Muscoskeletal System) fully expand to see all 2 entries
Zeugopod Growth Plate
sensory organ/ear/inner ear

See ENC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ENC1

SOURCE GeneReport for Unigene clusters: Hs.104925 Hs.744844

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

SABiosciences Expression via Pathway-Focused PCR Array including ENC1:

Ubiquitin Ligases in human mouse rat

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In Situ
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(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for ENC1 gene from 5/13 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_424790.3 XP_424790.3
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)
About This Section

Paralogs for ENC1 gene

KLHL21² KLHL6² KBTBD8² KLHL41² KBTBD12² KLHL24² KBTBD2² KLHL38²

KLHL29² KBTBD3² KLHL23² KLHL40² KLHL7² KBTBD7² KLHL25² KLHL30²

KBTBD6² KLHL35²

18/20 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

ENC1 for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

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

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

7 diseases for ENC1: About MalaCards

hairy cell leukemia t-cell leukemia colon cancer neuroblastoma

leukemia neuronitis breast cancer

ENC1 for disorders About GeneDecksing

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 9 sources (see all 30):
(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. (1998)
A model for p53-induced apoptosis. (PubMed id 9305847)^{1, 2, 3} Polyak K....Vogelstein B. (1997)
Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PubMed id 19424503)^{1, 2} Wang X.J. and Zhang D.D. (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. (2005)
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. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (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. (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. (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. (2001)
Genomic organization, chromosomal localization and regulation of expression of the neuronal nuclear matrix protein NRP/B in human brain tumors. (PubMed id 10974570)^{1, 9} Kim T.A....Avraham S. (2000)

(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)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

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

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