EN1 Gene

Aliases
for EN1 gene

Previous GC identifers: GC02M116805 GC02M117520 GC02M119506 GC02M119315 GC02M111924

Summaries
for EN1 gene

Genomic Views
for EN1 gene

RefSeq DNA sequence:

NC_000002.11  NC_018913.1  NT_022135.16  

SwitchGear Promoter luciferase reporter plasmid: EN1 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EN1

EN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M119694:  view genomic region     (about GC identifiers)

Proteins
for EN1 gene

Explore the universe of human proteins at neXtProt for EN1: NX_Q05925

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: EN1 OriGene Custom Protein Services for EN1
	GenScript Custom Purified and Recombinant Proteins Services for EN1
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for EN1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

	EMD Millipore Mono- and Polyclonal Antibodies for the study of EN1
	Browse R&D Systems for Antibodies
	OriGene Antibodies: EN1 OriGene Custom Antibody Services for EN1
	GenScript Superior Antibodies for EN1
	Novus Biologicals EN1 Antibodies
	Abcam antibodies for EN1
	Uscn Antibodies for EN1
	ThermoFisher Antibodies for EN1

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for EN1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for EN1

Protein Domains /
Families
for EN1 gene

ProtoNet protein and cluster: Q05925

Function
for EN1 gene

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EN1
		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate EN1 (see all 28):
		hsa-miR-181c hsa-miR-300 hsa-miR-128 hsa-miR-29c hsa-miR-29a hsa-miR-944 hsa-miR-374a hsa-miR-624
		SwitchGear 3'UTR luciferase reporter plasmid: EN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EN1 (see all 4) OriGene shRNA RFP: EN1 OriGene siRNA: EN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EN1

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for EN1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EN1 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EN1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: EN1 (NM_001426)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EN1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for EN1
		Search LifeMap BioReagents cell lines for EN1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

15/17 MGI mutant phenotypes (inferred from 16 alleles) (MGI details for En1)

Pathways & Interactions
for EN1 gene

	Super-pathway	contained gene-specific pathways
1	SIDS Susceptibility Pathways	SIDS Susceptibility Pathways 1.00

1 BioSystems Pathway for EN1

SIDS Susceptibility Pathways

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

Drugs & Compounds
for EN1 gene

Transcripts
for EN1 gene

Expression
for EN1 gene

EN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

10/22 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 22)
	Tissue Anatomical Compartment Cell			Category (developmental path)
	BrainSubstantia Nigra pars CompactaAdult Dopaminergic Neurons			Dopaminergic neurons
	BrainSubstantia Nigra pars CompactaDopaminergic Progenitor Cells			Dopaminergic neurons
	BrainSubstantia Nigra pars CompactaEmbryonic Dopaminergic Neurons			Dopaminergic neurons
	BrainVentral Tegmental AreaAdult Dopaminergic Neurons			Dopaminergic neurons
	BrainVentral Tegmental AreaDopaminergic Progenitor Cells			Dopaminergic neurons
	BrainVentral Tegmental AreaEmbryonic Dopaminergic Neurons			Dopaminergic neurons
	Neural TubeDiencephalic Floor PlateEarly Caudal Floor Plate Cells			Neural Ectoderm
	Neural TubeDiencephalic Floor PlateLate Caudal Floor Plate Cells			Neural Ectoderm
	Neural TubeDiencephalic Ventricular ZoneMeso-diencephalic Dopaminergic Precursor Cells			Dopaminergic neurons
	Neural TubeMesencephalic Floor PlateEarly Floor Plate Cells			Neural Ectoderm
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 3 LifeMap Cells
	Name			Category
	Midbrain neural progenitor-like cells (Differentiation of h...)
	Motor neuron-like cells (Generation of motor ...)			Motor Neurons, Spinal Cord
	Motor neuron progenitors (Differentiation of ...)

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EN1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EN1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EN1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EN1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EN1

Orthologs
for EN1 gene

Paralogs
for EN1 gene

Paralogs for EN1 gene

VAX1²  VAX2²  EN2²  

2 SIMAP similar genes for EN1 using alignment to 1 protein entry:     HME1_HUMAN:

POU6F1    EN2

EN1 for paralogs           About GeneDecksing

Genomic Variants
for EN1 gene

10/116 NCBI SNPs in EN1 are shown (see all 116)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1890523001,2		--	119599277(+)	AAGTGC/TCCCTC	1	--	ds5001		0	--	--	--	--
rs130052421,2	C,F,	--	119599377(+)	ATAAAA/TGAAAG	1	--	ds5001		10		NA WA CSA EA	372
rs1469680831,2		--	119599436(+)	GGAGGC/TCGCCA	1	--	ds5001		0	--	--	--	--
rs1812448221,2		--	119599521(+)	GTCGGC/TCTTTG	1	--	ds5001		0	--	--	--	--
rs1379883951,2		--	119599535(+)	TCCCTG/TGAACG	1	--	ds5001		0	--	--	--	--
rs562062901,2	C,	--	119599590(+)	CTAAAC/ACCAAA	1	--	ds5001		2		NA	122
rs1122463441,2	C,	--	119599601(+)	TCTGGG/ATCGCG	1	--	ds5001		1		NA	2
rs130059381,2	C,A,	--	119599735(+)	AGGAGA/GGCCGC	1	--	ds5001		7		NA WA EA	366
rs1431394061,2		--	119599997(+)	GCCGGA/CGATGC	1	--	ut31		0	--	--	--	--
rs1849457141,2		--	119600025(+)	AGAAGC/TAATGA	1	--	ut31		0	--	--	--	--

HapMap Linkage Disequilibrium report for EN1 (119599747 - 119605759 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for EN1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EN1

DNA2.0 Custom Variant and Variant Library Synthesis for EN1

Disorders / Diseases
for EN1 gene

14 diseases for EN1

2 Novoseek disease relationships for EN1 gene    About this table

Publications
for EN1 gene

PubMed articles for EN1 gene, integrated from 9 sources (see all 60) (see top 10): (articles sorted by number of sources associating them with EN1)

Utopia: connect your pdf to the dynamic world of online information

1. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PubMed id 15240857)^{1, 4, 9} Weese-Mayer D.E....Marazita M.L. (2004)
2. Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions. (PubMed id 1363401)^{1, 2, 9} Logan C....Joyner A.L. (1992)
3. Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. (PubMed id 8094370)^{1, 3} Kohler A....Muenke M. (1993)
4. Model-based gene selection shows engrailed 1 is associated with antipsychotic response. (PubMed id 18698228)^{1, 9} Webb B.T....van den Oord E.J. (2008)
5. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PubMed id 19018235)^{1, 9} Laroche F....Robel L. (2008)
6. Deregulated expression of PAX5 in medulloblastoma. (PubMed id 7777574)^{1, 9} Kozmik Z....Aguzzi A. (1995)
7. Developmental transcription factor EN1--a novel biomar ker in human salivary gland adenoid cystic carcinoma. (PubMed id 21800291)¹ Bell D....El-Naggar A.K. (2012)
8. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)¹ Lin Y.Y....Boeke J.D. (2012)
9. [The regulation of UTROPHIN expression by EN1]. (PubMed id 21482524)¹ Wang Q....Jin C.L. (2011)
10. A method of utrophin up-regulation through RNAi-media ted knockdown of the transcription factor EN1. (PubMed id 21672318)¹ Wang Q....Wu Y.Y. (2011)
11. Replication of top markers of a genome-wide associati on study in multiple sclerosis in Spain. (PubMed id 20944657)¹ Cavanillas M.L....Urcelay E. (2010)
12. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
13. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PubMed id 19345444)¹ Haubenberger D....Zimprich A. (2009)
14. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)¹ Yerges L.M....Zmuda J.M. (2009)
15. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
16. Long-range epigenetic silencing at 2q14.2 affects mos t human colorectal cancers and may have application as a non-invasive biomarker of disease. (PubMed id 19384295)¹ Mayor R....Peinado M.A. (2009)
17. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)¹ Baranzini S.E....Oksenberg J.R. (2008)
18. Inhibition of cortical neuron differentiation by Groucho/TLE1 requires interaction with WRPW, but not Eh1, repressor peptides. (PubMed id 18611861)¹ Buscarlet M....Stifani S. (2008)
19. Engrailed-1 negatively regulates beta-catenin transcriptional activity by destabilizing beta-catenin via a glycogen synthase kinase-3beta-independent pathway. (PubMed id 16571670)¹ Bachar-Dahan L....Gazit A. (2006)
20. Beta-catenin activation is necessary and sufficient to specify the dorsal dermal fate in the mouse. (PubMed id 16730693)¹ Atit R....Conlon R.A. (2006)
21. Differentiation of insulin-producing cells from human neural progenitor cells. (PubMed id 15839736)¹ Hori Y....Kim S.K. (2005)
22. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
23. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
24. Functional interaction of Jun and homeodomain proteins. (PubMed id 11551904)¹ Schaefer L.K....Schaefer T.S. (2001)
25. Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins. (PubMed id 11069920)¹ Mikkola I....Johansen T. (2001)
26. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)¹ Hartley J.L....Brasch M.A. (2000)
27. Association of Engrailed homeoproteins with vesicles presenting caveolae-like properties. (PubMed id 9169834)¹ Joliot A....Prochiantz A. (1997)
28. The mouse Engrailed-1 gene and ventral limb patterning. (PubMed id 8684466)¹ Loomis C.A....Joyner A.L. (1996)
29. Chromosomal localization of the human homeo box-containing genes, EN1 and EN2. (PubMed id 2567700)¹ Logan C....Joyner A.L. (1989)
30. FGF10 can induce Fgf8 expression concomitantly with En1 and R-fng expression in chick limb ectoderm, independent of its dorsoventral specification. (PubMed id 10646796)⁹ Ohuchi H....Noji S. (1999)
31. Dendritic localization and activity-dependent translation of Engrailed1 transcription factor. (PubMed id 17399993)⁹ Di Nardo A.A....Montesinos M.L. (2007)
32. Pax6 defines the di-mesencephalic boundary by repressing En1 and Pax2. (PubMed id 10804178)⁹ Matsunaga E....Nakamura H. (2000)
33. Engrailed-1 and netrin-1 regulate axon pathfinding by association interneurons that project to motor neurons. (PubMed id 10477289)⁹ Saueressig H....Goulding M. (1999)
34. BMP controls proximodistal outgrowth, via induction of the apical ectodermal ridge, and dorsoventral patterning in the vertebrate limb. (PubMed id 11714672)⁹ Pizette S....Niswander L. (2001)
35. PAX2 is expressed in multiple spinal cord interneurons, including a population of EN1+ interneurons that require PAX6 for their development. (PubMed id 9409667)⁹ Burrill J.D....Saueressig H. (1997)
36. Retroviral misexpression of engrailed genes in the chick optic tectum perturbs the topographic targeting of retinal axons. (PubMed id 8757262)⁹ Friedman G.C. and O'Leary D.D. (1996)
37. Gene silencing in chick embryos with a vector-based small interfering RNA system. (PubMed id 12950277)⁹ Katahira T. and Nakamura H. (2003)
38. Regulation of epidermal bullous pemphigoid antigen 1 (BPAG1) synthesis by homeoprotein transcription factors. (PubMed id 10504454)⁹ Mainguy G....Prochiantz A. (1999)
39. Differentiation of dopaminergic neurons from human embryonic stem cells: modulation of differentiation by FGF-20. (PubMed id 19332307)⁹ Shimada H....Kunisada T. (2009)
40. Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype. (PubMed id 16552425)⁹ Barber J.C....Wakeling E. (2006)
41. Directed differentiation of dopaminergic neuronal subtypes from human embryonic stem cells. (PubMed id 15917474)⁹ Yan Y....Zhang S.C. (2005)
42. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. (PubMed id 14608649)⁹ Weese-Mayer D.E....Marazita M.L. (2003)
43. Regionalisation and acquisition of polarity in the optic tectum. (PubMed id 11689282)⁹ Nakamura H. (2001)
44. Refinement of bovine chromosome 2 linkage map near the mh locus reveals rearrangements between the bovine and human genomes. (PubMed id 9800322)⁹ Sonstegard T.S....Smith T.P. (1998)
45. Crossregulation between En-2 and Wnt-1 in chick tectal development. (PubMed id 9572358)⁹ Sugiyama S....Nakamura H. (1998)
46. [Dorso-ventral patterning of the vertebrate limb and dermatoglyphs with special reference to the pad pattern of mice] (PubMed id 9990207)⁹ Tsugane M.H. and Yasuda M. (1998)
47. Expression of the homeobox-containing genes EN1 and EN2 in human fetal midgestational medulla and cerebellum. (PubMed id 9056537)⁹ Zec N....Kinney H.C. (1997)
48. In vitro and in vivo enhanced generation of human A9 dopamine neurons from neural stem cells by Bcl-XL. (PubMed id 20106970)⁹ Courtois E.T....MartA-nez-Serrano A. (2010)
49. CpG island hypermethylation in human astrocytomas. (PubMed id 20233874)⁹ Wu X....Pfeifer G.P. (2010)
50. Characterization of two ectrodactyly-associated trans location breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2. (PubMed id 19223936)⁹ David D....van Bokhoven H. (2009)
51. Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery. (PubMed id 19429598)⁹ Furniss D....Wilkie A.O. (2009)
52. 9-Methyl-beta-carboline up-regulates the appearance of differentiated dopaminergic neurones in primary mesencephalic culture. (PubMed id 17913302)⁹ Hamann J....Gille G. (2008)
53. PerioGlas regulates osteoblast RNA interfering. (PubMed id 18573151)⁹ Palmieri A....Carinci F. (2008)
54. In vitro differentiation of cord blood unrestricted somatic stem cells expressing dopamine-associated genes into neuron-like cells. (PubMed id 17196845)⁹ Fallahi-Sichani M....Atashi A. (2007)
55. Activation of HLXB9 by juxtaposition with MYB via formation of t(6;7)(q23;q36) in an AML-M4 cell line (GDM-1). (PubMed id 15540222)⁹ Nagel S....MacLeod R.A. (2005)
56. Joubert syndrome co-existing with partial Xp trisomy: review of the literature. (PubMed id 15517825)⁹ Guven G.S....Hacihanefioglu S. (2004)
57. Polarity and laminar formation of the optic tectum in relation to retinal projection. (PubMed id 15007826)⁹ Nakamura H. and Sugiyama S. (2004)
58. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. (PubMed id 11807898)⁹ Blair I.P....Chance P.F. (2002)
59. Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy. (PubMed id 11815869)⁹ Sarnat H.B....Cheyette S.R. (2002)

External Searches for EN1 gene

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Products
for EN1 gene