NFE4 - nuclear factor, erythroid 4 Gene

Homo sapiens

Also known as NF-E4

Gene ID: 58160 | Gene type: ncRNA

About NFE4

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:102,973,430-102,988,853 (from NCBI)

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]

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Related Diseases

Diseases

Alias

Hemoglobinopathy

Hemoglobinopathies

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