1. Gene
  2. NFE2L1 - NFE2 like bZIP transcription factor 1 Gene

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

NFE2L1 Protein Structure

bZIP_Maf

bZIP_Maf: bZIP Maf transcription factor (626 - 717)

  • 0
  • 200
  • 400
  • 600
  • 772 a.a.
Protein Preferred Names Protein Names

endoplasmic reticulum membrane sensor NFE2L1

NF-E2-related factor 1

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

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