EN1 engrailed homeobox 1 [Homo sapiens (human)]
| Gene Symbol | EN1 |
| Entrez Gene ID | 2019 |
| Full Name | engrailed homeobox 1 |
| Synonyms | |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
2 2q14.2 |
| Summary | 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. [provided by RefSeq]. |
| Disorder | MIM: 131290 |
| mRNA | NM_001426, 126090908 |
| Protein | NP_001417, 126090909 |
| Product | homeobox protein engrailed-1 |
| RefSeq Status | REVIEWED |
| WP706 | SIDS Susceptibility Pathways |
| Homo sapiens (human) | EN1 | NP_001417.3 |
| Pan troglodytes (chimpanzee) | EN1 | XP_001172516.1 |
| Mus musculus (house mouse) | En1 | NP_034263.1 |
| Rattus norvegicus (Norway rat) | En1 | XP_001056699.1 |
| Danio rerio (zebrafish) | eng1b | NP_001013516.1 |
| Drosophila melanogaster (fruit fly) | inv | NP_523699.3 |
| ID | Name | Evidence |
| GO:0001501 | skeletal system development | TAS |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA |
| GO:0007275 | multicellular organismal development | IEA |
| GO:0009653 | anatomical structure morphogenesis | TAS |
| GO:0009953 | dorsal/ventral pattern formation | IEA |
| GO:0009954 | proximal/distal pattern formation | IEA |
| GO:0030901 | midbrain development | IEA |
| GO:0030902 | hindbrain development | IEA |
| GO:0030917 | midbrain-hindbrain boundary development | IEA |
| GO:0035115 | embryonic forelimb morphogenesis | IEA |
| GO:0043473 | pigmentation | IEA |
| GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | IEA |
| GO:0048666 | neuron development | IEA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
Function
| ID | Name | Evidence |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | IEA |
| GO:0043565 | sequence-specific DNA binding | IEA |
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