NFE2L1 - NFE2 like bZIP transcription factor 1 Gene

Homo sapiens

Also known as NRF1; NRF-1; TCF11; LCR-F1

Gene ID: 4779 | Gene type: protein coding

About NFE2L1

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,048,359-48,061,545 (from NCBI)

This gene has 23 transcripts (splice variants), 277 orthologues and 3 paralogues. Ubiquitous expression in heart (RPKM 133.9), kidney (RPKM 94.6) and 24 other tissues.

Summary

This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]

NFE2L1 Products(3)

mRNA	Protein	Name
NM_001330261.2	NP_001317190.1	endoplasmic reticulum membrane sensor NFE2L1 isoform 2
NM_001330262.2	NP_001317191.1	endoplasmic reticulum membrane sensor NFE2L1 isoform 3
NM_003204.3	NP_003195.1	endoplasmic reticulum membrane sensor NFE2L1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15308669	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	8932385	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	20102225	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20102225	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	8932385	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15308669	GOA
involved in regulation of odontoblast differentiation	IDA IDA: Inferred from direct assay	15308669	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	24448410	GOA
located in nucleus	IDA IDA: Inferred from direct assay	24448410	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

NFE2L1 Protein Structure

bZIP_Maf

0
200
400
600
772 a.a.

Protein Preferred Names

Protein Names

endoplasmic reticulum membrane sensor NFE2L1

NF-E2-related factor 1

NFE2L1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NFE2L1	Q14494	MAFG	Homo sapiens	O15525	Peptide Array	20102225
Intra	NFE2L1	Q14494	MAFG	Homo sapiens	O15525	BRET	37398436
Intra	NFE2L1	Q14494	MAFG	Homo sapiens	O15525	FRET	23661758
Intra	NFE2L1	Q14494	CREBZF	Homo sapiens	Q9NS37	Peptide Array	20102225
Intra	NFE2L1	Q14494	MAFF	Homo sapiens	Q9ULX9	FRET	23661758

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Appendix Lymphoma

Appendiceal Lymphoma

Ngly1-Deficiency

Deficiency Of N-Glycanase 1	Ngly1-Cddg
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Ngly1 Deficiency
Congenital Disorder Of Deglycosylation	Congenital Disorder Of Glycosylation Type Iv
Congenital Disorder Of Deglycosylation	Cddg
Congenital Disorder Of Glycosylation Type Iv	Cdg1v

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09244	NFE2L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NFE2L1	VGNC	VGNC:75331
Felis catus	NFE2L1	VGNC	VGNC:68474
Canis familiaris	NFE2L1	VGNC	VGNC:43772
Mus musculus	NFE2L1	MGD	MGI:99421
Rattus norvegicus	NFE2L1	RGD	RGD:1311972
Bos taurus	NFE2L1	VGNC	VGNC:32035

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