EN1 - engrailed homeobox 1 Gene
Also Known as ENDOVESLB
Species: Homo sapiens
About EN1
This gene has 2 transcripts (splice variants), 239 orthologues, 3 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.
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, Jul 2008]
EN1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001426.4 | NP_001417.3 | homeobox protein engrailed-1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription repressor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
21672318 | GOA |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
21672318 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
21672318 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
24399192 | GOA |
EN1 Protein Structure
Homeobox: Homeobox domain (304 - 360)
Engrail_1_C_sig: Engrailed homeobox C-terminal signature domain (361 - 392)
- 0
- 100
- 200
- 300
- 392 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
homeobox protein engrailed-1 |
|
EN1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82310 | EN1 Antibody (YA2055) | WB, IP, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Endove Syndrome, Limb-Brain Type |
|
|
| Eccrine Porocarcinoma |
|
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| Endove Syndrome, Limb-Only Type |
|
|
| Sudden Infant Death Syndrome |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
|
| Congenital Central Hypoventilation Syndrome |
|
|
| Arthrogryposis, Distal, Type 2a |
|
|
| Cerebellar Hypoplasia |
|
|
| Salivary Gland Adenoid Cystic Carcinoma |
|
|
| Lesch-Nyhan Syndrome |
|
|
| Parkinson Disease, Late-Onset |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | EN1 | RGD | RGD:1595088 |
| Mus musculus | EN1 | MGD | MGI:95389 |
| Bos taurus | EN1 | VGNC | VGNC:28487 |
| Felis catus | EN1 | VGNC | VGNC:107530 |
| Canis familiaris | EN1 | VGNC | VGNC:54804 |
| Macaca mulatta | EN1 | VGNC | VGNC:104525 |
| Others | EN1 | NCBI |