NFE4 - nuclear factor, erythroid 4 Gene
Also Known as NF-E4
Species: Homo sapiens
About NFE4
This gene has 5 transcripts (splice variants). Biased expression in adrenal (RPKM 1.2), appendix (RPKM 0.3) and 3 other tissues.
Summary
The erythroid-specific protein encoded by this gene, and the ubiquitous transcription factor CP2, form the stage selector protein (SSP) complex, which is involved in preferential expression of the gamma-globin genes in fetal erythroid cells. Alternate use of an in-frame upstream non-AUG (CUG) translation initiation codon, and a downstream AUG codon, results in two isoforms. While the long isoform (22 kDa) acts as an activator, the short isoform (14 kDa) has been shown to repress gamma-globin gene expression. This gene is located in an intron of the FBXL13 gene on the opposite strand. [provided by RefSeq, Jul 2008]
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription factor binding |
IPI
IPI: Inferred from physical interaction
|
11003662 | GOA |
| contributes to cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
16263792 | GOA |
| contributes to cis-regulatory region sequence-specific DNA binding |
IMP
IMP: Inferred from mutant phenotype
|
15273251 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15273251 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
11003662 | GOA |
| enables transcription coregulator activity |
IDA
IDA: Inferred from direct assay
|
11003662 | GOA |
| enables transcription coregulator activity |
IMP
IMP: Inferred from mutant phenotype
|
15273251 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
11003662 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
15273251 | GOA |
| involved in protein-containing complex assembly |
IDA
IDA: Inferred from direct assay
|
11003662 | GOA |
| involved in regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
15084587 | GOA |
| involved in regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
16263792 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
11003662 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
11003662 | GOA |
| part of protein-containing complex |
IMP
IMP: Inferred from mutant phenotype
|
15273251 | GOA |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hemoglobinopathy |
|