EN1 (gene): Difference between revisions

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{{DISPLAYTITLE:''EN1'' (gene)}}
{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''Homeobox protein engrailed-1''' is a [[protein]] that in humans is encoded by the ''EN1'' [[gene]].<ref name="pmid8094370">{{cite journal | vauthors = Kohler A, Logan C, Joyner AL, Muenke M | title = Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21 | journal = Genomics | volume = 15 | issue = 1 | pages = 233–235 |date=Mar 1993 | pmid = 8094370 | pmc =  | doi = 10.1006/geno.1993.1045 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: EN1 engrailed homeobox 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2019| accessdate = }}</ref>
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Engrailed homeobox 1
| HGNCid = 3342
| Symbol = EN1
| AltSymbols =;
| OMIM = 131290
| ECnumber = 
| Homologene = 50663
| MGIid = 95389
| GeneAtlas_image1 = PBB_GE_EN1_220559_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0005249 |text = voltage-gated potassium channel activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0008076 |text = voltage-gated potassium channel complex}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006813 |text = potassium ion transport}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0009653 |text = anatomical structure morphogenesis}} {{GNF_GO|id=GO:0030326 |text = embryonic limb morphogenesis}} {{GNF_GO|id=GO:0030901 |text = midbrain development}} {{GNF_GO|id=GO:0030902 |text = hindbrain development}} {{GNF_GO|id=GO:0030917 |text = midbrain-hindbrain boundary development}} {{GNF_GO|id=GO:0048666 |text = neuron development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2019
    | Hs_Ensembl = ENSG00000163064
    | Hs_RefseqProtein = NP_001417
    | Hs_RefseqmRNA = NM_001426
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 119316236
    | Hs_GenLoc_end = 119322229
    | Hs_Uniprot = Q05925
    | Mm_EntrezGene = 13798
    | Mm_Ensembl = ENSMUSG00000058665
    | Mm_RefseqmRNA = XM_974086
    | Mm_RefseqProtein = XP_979180
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 1
    | Mm_GenLoc_start = 122430227
    | Mm_GenLoc_end = 122435517
    | Mm_Uniprot = Q3USA2
  }}
}}
'''Engrailed homeobox 1''', also known as '''EN1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EN1 engrailed homeobox 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2019| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
[[Homeobox]]-containing genes are thought to have a role in controlling development. In ''[[Drosophila]]'', the ''engrailed'' (''en'') gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, ''En1'' and ''En2'', produced different developmental defects that frequently are lethal. The human ''engrailed'' homologs ''1'' and ''2'' encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system.<ref name="entrez" />
{{PBB_Summary
 
| section_title =
''Engrailed'' (''En'') ''1'' is a homeobox gene that helps primarily regulate development in the dorsal midbrain and anterior hindbrain ([[cerebellum]] and [[superior colliculus|colliculi]]) of humans.  The expression of ''En1'' is regulated until 13 days after fertilization by Fgf8, which controls the development of the forebrain and hindbrain.  ''En1'' is first expressed in this region on day 9.5 after fertilization for about 12 hours until ''En2'' is expressed. After ''En2'' expression, ''En1'' is expressed again in other tissues such as somites and limb ectoderm throughout development.<ref name="pmid17537797">{{cite journal | vauthors = Sgaier SK, Lao Z, Villanueva MP, Berenshteyn F, Stephen D, Turnbull RK, Joyner AL | title = Genetic subdivision of the tectum and cerebellum into functionally related regions based on differential sensitivity to engrailed proteins | journal = Development | volume = 134 | issue = 12 | pages = 2325–35 |date=June 2007 | pmid = 17537797 | pmc = 2840613 | doi = 10.1242/dev.000620 }}</ref> A [[gene knockout|knockout]] mouse model with the ''En1'' homeobox deleted was developed; mice died less than 24 hours after birth because they refused to feed, although they had the physical ability.  The brains of the mice were studied and most of the cerebellum, colliculi, and cranial nerves 3 and 4 were missing. There was clear deletion in the mid-hindbrain, isthmus, junction region that began at day 9.5 after fertilization. All of the mice demonstrated marked forepaw deformities including fusion of digits and sixth digits. The 13th ribs and sternums displayed delayed and abnormal [[ossification]]. The mouse model demonstrated that the expression of ''En1'' is critical in the correct development of the brain, limbs, and sternum.<ref name="pmid7925010">{{cite journal | vauthors = Wurst W, Auerbach AB, Joyner AL | title = Multiple developmental defects in Engrailed-1 mutant mice: an early mid-hindbrain deletion and patterning defects in forelimbs and sternum | journal = Development | volume = 120 | issue = 7 | pages = 2065–75 |date=July 1994 | pmid = 7925010 | doi = }}</ref>
| summary_text = Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system.<ref name="entrez">{{cite web | title = Entrez Gene: EN1 engrailed homeobox 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2019| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | author=Logan C |title=Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions |journal=Dev. Genet. |volume=13 |issue= 5 |pages= 345–358 |year= 1993 |pmid= 1363401 |doi= 10.1002/dvg.1020130505 |name-list-format=vanc| author2=Hanks MC  | author3=Noble-Topham S  | display-authors=3  | last4=Nallainathan  | first4=D.  | last5=Provart  | first5=N. J.  | last6=Joyner  | first6=A. L. }}
| citations =
*{{cite journal  | vauthors=Logan C, Willard HF, Rommens JM, Joyner AL |title=Chromosomal localization of the human homeo box-containing genes, EN1 and EN2 |journal=Genomics |volume=4 |issue= 2 |pages= 206–209 |year= 1989 |pmid= 2567700 |doi=10.1016/0888-7543(89)90301-7 }}
*{{cite journal  | author=Logan C, Hanks MC, Noble-Topham S, ''et al.'' |title=Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions. |journal=Dev. Genet. |volume=13 |issue= 5 |pages= 345-58 |year= 1993 |pmid= 1363401 |doi= 10.1002/dvg.1020130505 }}
*{{cite journal  | author=Kozmik Z |title=Deregulated expression of PAX5 in medulloblastoma |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 12 |pages= 5709–5713 |year= 1995 |pmid= 7777574 |doi=10.1073/pnas.92.12.5709 | pmc=41766  |name-list-format=vanc| author2=Sure U  | author3=Rüedi D  | display-authors=3  | last4=Busslinger  | first4=M  | last5=Aguzzi  | first5=A  }}
*{{cite journal  | author=Logan C, Willard HF, Rommens JM, Joyner AL |title=Chromosomal localization of the human homeo box-containing genes, EN1 and EN2. |journal=Genomics |volume=4 |issue= 2 |pages= 206-9 |year= 1989 |pmid= 2567700 |doi=  }}
*{{cite journal  | author=Loomis CA |title=The mouse Engrailed-1 gene and ventral limb patterning |journal=Nature |volume=382 |issue= 6589 |pages= 360–363 |year= 1996 |pmid= 8684466 |doi= 10.1038/382360a0 |name-list-format=vanc| author2=Harris E  | author3=Michaud J  | display-authors=3  | last4=Wurst  | first4=Wolfgang  | last5=Hanks  | first5=Mark  | last6=Joyner  | first6=Alexandra L. }}
*{{cite journal  | author=Kozmik Z, Sure U, Rüedi D, ''et al.'' |title=Deregulated expression of PAX5 in medulloblastoma. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 12 |pages= 5709-13 |year= 1995 |pmid= 7777574 |doi= }}
*{{cite journal  | author=Joliot A |title=Association of Engrailed homeoproteins with vesicles presenting caveolae-like properties |journal=Development |volume=124 |issue= 10 |pages= 1865–75 |year= 1997 |pmid= 9169834 |doi= |name-list-format=vanc| author2=Trembleau A  | author3=Raposo G  | display-authors=3  | last4=Calvet  | first4=S  | last5=Volovitch  | first5=M  | last6=Prochiantz  | first6=A }}
*{{cite journal | author=Köhler A, Logan C, Joyner AL, Muenke M |title=Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. |journal=Genomics |volume=15 |issue= 1 |pages= 233-5 |year= 1993 |pmid= 8094370 |doi= 10.1006/geno.1993.1045 }}
*{{cite journal  | vauthors=Mikkola I, Bruun JA, Holm T, Johansen T |title=Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins |journal=J. Biol. Chem. |volume=276 |issue= 6 |pages= 4109–4118 |year= 2001 |pmid= 11069920 |doi= 10.1074/jbc.M008882200 }}
*{{cite journal  | author=Loomis CA, Harris E, Michaud J, ''et al.'' |title=The mouse Engrailed-1 gene and ventral limb patterning. |journal=Nature |volume=382 |issue= 6589 |pages= 360-3 |year= 1996 |pmid= 8684466 |doi= 10.1038/382360a0 }}
*{{cite journal  | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–1795 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000  | pmc=310948 }}
*{{cite journal  | author=Joliot A, Trembleau A, Raposo G, ''et al.'' |title=Association of Engrailed homeoproteins with vesicles presenting caveolae-like properties. |journal=Development |volume=124 |issue= 10 |pages= 1865-75 |year= 1997 |pmid= 9169834 |doi=  }}
*{{cite journal  | vauthors=Schaefer LK, Wang S, Schaefer TS |title=Functional interaction of Jun and homeodomain proteins |journal=J. Biol. Chem. |volume=276 |issue= 46 |pages= 43074–43082 |year= 2001 |pmid= 11551904 |doi= 10.1074/jbc.M102552200 }}
*{{cite journal  | author=Mikkola I, Bruun JA, Holm T, Johansen T |title=Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins. |journal=J. Biol. Chem. |volume=276 |issue= 6 |pages= 4109-18 |year= 2001 |pmid= 11069920 |doi= 10.1074/jbc.M008882200 }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
*{{cite journal  | vauthors=Hori Y, Gu X, Xie X, Kim SK |title=Differentiation of insulin-producing cells from human neural progenitor cells |journal=PLoS Med. |volume=2 |issue= 4 |pages= e103 |year= 2006 |pmid= 15839736 |doi= 10.1371/journal.pmed.0020103 | pmc=1087208 }}
*{{cite journal  | author=Schaefer LK, Wang S, Schaefer TS |title=Functional interaction of Jun and homeodomain proteins. |journal=J. Biol. Chem. |volume=276 |issue= 46 |pages= 43074-82 |year= 2001 |pmid= 11551904 |doi= 10.1074/jbc.M102552200 }}
*{{cite journal  | vauthors=Bachar-Dahan L, Goltzmann J, Yaniv A, Gazit A |title=Engrailed-1 negatively regulates beta-catenin transcriptional activity by destabilizing beta-catenin via a glycogen synthase kinase-3beta-independent pathway |journal=Mol. Biol. Cell |volume=17 |issue= 6 |pages= 2572–2580 |year= 2006 |pmid= 16571670 |doi= 10.1091/mbc.E06-01-0052 | pmc=1474795 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Atit R |title=Beta-catenin activation is necessary and sufficient to specify the dorsal dermal fate in the mouse |journal=Dev. Biol. |volume=296 |issue= 1 |pages= 164–176 |year= 2006 |pmid= 16730693 |doi= 10.1016/j.ydbio.2006.04.449 |name-list-format=vanc| author2=Sgaier SK  | author3=Mohamed OA  | display-authors=3  | last4=Taketo  | first4=Makoto M.  | last5=Dufort  | first5=Daniel  | last6=Joyner  | first6=Alexandra L.  | last7=Niswander  | first7=Lee  | last8=Conlon  | first8=Ronald A. }}
*{{cite journal  | author=Hori Y, Gu X, Xie X, Kim SK |title=Differentiation of insulin-producing cells from human neural progenitor cells. |journal=PLoS Med. |volume=2 |issue= 4 |pages= e103 |year= 2006 |pmid= 15839736 |doi= 10.1371/journal.pmed.0020103 }}
*{{cite journal  | author=Bachar-Dahan L, Goltzmann J, Yaniv A, Gazit A |title=Engrailed-1 negatively regulates beta-catenin transcriptional activity by destabilizing beta-catenin via a glycogen synthase kinase-3beta-independent pathway. |journal=Mol. Biol. Cell |volume=17 |issue= 6 |pages= 2572-80 |year= 2006 |pmid= 16571670 |doi= 10.1091/mbc.E06-01-0052 }}
*{{cite journal  | author=Atit R, Sgaier SK, Mohamed OA, ''et al.'' |title=Beta-catenin activation is necessary and sufficient to specify the dorsal dermal fate in the mouse. |journal=Dev. Biol. |volume=296 |issue= 1 |pages= 164-76 |year= 2006 |pmid= 16730693 |doi= 10.1016/j.ydbio.2006.04.449 }}
}}
{{refend}}
{{refend}}


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* {{MeshName|EN1+protein,+human}}
* {{MeshName|EN1+protein,+human}}


{{NLM content}}
{{Transcription factors|g3}}


{{protein-stub}}
{{NLM content}}
{{Transcription factors}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
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{{gene-2-stub}}

Latest revision as of 00:30, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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n/a

RefSeq (mRNA)

n/a

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Homeobox protein engrailed-1 is a protein that in humans is encoded by the EN1 gene.[1][2]

Function

Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the engrailed (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system.[2]

Engrailed (En) 1 is a homeobox gene that helps primarily regulate development in the dorsal midbrain and anterior hindbrain (cerebellum and colliculi) of humans. The expression of En1 is regulated until 13 days after fertilization by Fgf8, which controls the development of the forebrain and hindbrain. En1 is first expressed in this region on day 9.5 after fertilization for about 12 hours until En2 is expressed. After En2 expression, En1 is expressed again in other tissues such as somites and limb ectoderm throughout development.[3] A knockout mouse model with the En1 homeobox deleted was developed; mice died less than 24 hours after birth because they refused to feed, although they had the physical ability. The brains of the mice were studied and most of the cerebellum, colliculi, and cranial nerves 3 and 4 were missing. There was clear deletion in the mid-hindbrain, isthmus, junction region that began at day 9.5 after fertilization. All of the mice demonstrated marked forepaw deformities including fusion of digits and sixth digits. The 13th ribs and sternums displayed delayed and abnormal ossification. The mouse model demonstrated that the expression of En1 is critical in the correct development of the brain, limbs, and sternum.[4]

References

  1. ↑ Kohler A, Logan C, Joyner AL, Muenke M (Mar 1993). "Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21". Genomics. 15 (1): 233–235. doi:10.1006/geno.1993.1045. PMID 8094370.
  2. ↑ 2.0 2.1 "Entrez Gene: EN1 engrailed homeobox 1".
  3. ↑ Sgaier SK, Lao Z, Villanueva MP, Berenshteyn F, Stephen D, Turnbull RK, Joyner AL (June 2007). "Genetic subdivision of the tectum and cerebellum into functionally related regions based on differential sensitivity to engrailed proteins". Development. 134 (12): 2325–35. doi:10.1242/dev.000620. PMC 2840613. PMID 17537797.
  4. ↑ Wurst W, Auerbach AB, Joyner AL (July 1994). "Multiple developmental defects in Engrailed-1 mutant mice: an early mid-hindbrain deletion and patterning defects in forelimbs and sternum". Development. 120 (7): 2065–75. PMID 7925010.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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