NFE2L1 information

NFE2L1
Identifiers
Aliases	NFE2L1, LCR-F1, NRF1, TCF11, nuclear factor, erythroid 2 like 1, NRF-1, NFE2 like bZIP transcription factor 1
External IDs	OMIM: 163260; MGI: 99421; HomoloGene: 20685; GeneCards: NFE2L1; OMA:NFE2L1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	48,061,545 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	96,720,794 bp
RNA expression pattern
	Top expressed in
	glutes; ; gastrocnemius muscle; ; thoracic diaphragm; ; skeletal muscle tissue; ; tibialis anterior muscle; ; muscle of thigh; ; Skeletal muscle tissue of rectus abdominis; ; Skeletal muscle tissue of biceps brachii; ; Achilles tendon; ; triceps brachii muscle;
	Top expressed in
	muscle of thigh; ; neural layer of retina; ; dentate gyrus of hippocampal formation granule cell; ; lip; ; choroid plexus of fourth ventricle; ; superior frontal gyrus; ; tail of embryo; ; primary visual cortex; ; ankle; ; genital tubercle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA binding; DNA-binding transcription factor activity; transcription coregulator activity; transcription cis-regulatory region binding; DNA-binding transcription activator activity, RNA polymerase II-specific; protein binding; protein domain specific binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; cholesterol binding; protein heterodimerization activity; lipid binding; protein-containing complex binding; DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin binding; promoter-specific chromatin binding;
Cellular component	integral component of membrane; endoplasmic reticulum membrane; membrane; endoplasmic reticulum; nucleus; cytoplasm; cytosol; integral component of endoplasmic reticulum membrane; protein-containing complex;
Biological process	regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II; anatomical structure morphogenesis; transcription, DNA-templated; positive regulation of transcription, DNA-templated; heme biosynthetic process; erythrocyte differentiation; inflammatory response; positive regulation of transcription by RNA polymerase II; negative regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; cellular response to oxidative stress; positive regulation of transcription from RNA polymerase II promoter in response to stress; cell redox homeostasis; lipid homeostasis; cellular response to cholesterol; negative regulation of transcription from RNA polymerase II promoter in response to stress; regulation of odontoblast differentiation; lipid metabolism; steroid metabolic process; cholesterol metabolic process; cholesterol homeostasis; protein polyubiquitination; fructose 6-phosphate metabolic process; glutathione metabolic process; regulation of mitotic nuclear division; regulation of gene expression; regulation of glucose metabolic process; regulation of lipid metabolic process; regulation of fatty acid metabolic process; cellular homeostasis; spinal cord motor neuron differentiation; glial cell fate commitment; response to endoplasmic reticulum stress; cysteine transport; regulation of inflammatory response; glucose 6-phosphate metabolic process; regulation of proteasomal protein catabolic process; cellular response to cold; regulation of nucleus organization; regulation of response to endoplasmic reticulum stress;
	Sources:Amigo / QuickGO
Orthologs
	4779
	18023
	ENSG00000082641
	ENSMUSG00000038615
	Q14494
	Q61985
	NM_003204; NM_001330261; NM_001330262
NM_001130450; NM_001130451; NM_001130452; NM_001130453; NM_001130454;
	NM_008686; NM_001361682
	NP_001317190; NP_001317191; NP_003195
NP_001123922; NP_001123923; NP_001123924; NP_001123925; NP_001123926;
	NP_032712; NP_001348611
	Wikidata
View/Edit Human	View/Edit Mouse

Nuclear factor erythroid 2-related factor 1 (Nrf1) also known as nuclear factor erythroid-2-like 1 (NFE2L1) is a protein that in humans is encoded by the NFE2L1 gene.^[5]^[6]^[7] Since NFE2L1 is referred to as Nrf1, it is often confused with nuclear respiratory factor 1 (Nrf1).

NFE2L1 is a cap ‘n’ collar, basic-leucine zipper (bZIP) transcription factor. Several isoforms of NFE2L1 have been described for both human and mouse genes. NFE2L1 was first cloned in yeast using a genetic screening method. NFE2L1 is ubiquitously expressed, and high levels of transcript are detected in the heart, kidney, skeletal muscle, fat, and brain.^[5] Four separate regions — an asparagine/serine/threonine, acidic domains near the N-terminus, and a serine-rich domain located near the CNC motif — are required for full transactivation function of NFE2L1.^[8]^[9]^[10] NFE2L1 is a key regulator of cellular functions including oxidative stress response, differentiation, inflammatory response, metabolism, cholesterol handling^[11] and maintaining proteostasis.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000082641 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000038615 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Chan JY, Han XL, Kan YW (Dec 1993). "Cloning of Nrf1, an NF-E2-related transcription factor, by genetic selection in yeast". Proceedings of the National Academy of Sciences of the United States of America. 90 (23): 11371–5. Bibcode:1993PNAS...9011371C. doi:10.1073/pnas.90.23.11371. PMC 47984. PMID 8248256.
^ Chan JY, Kwong M, Lu R, Chang J, Wang B, Yen TS, Kan YW (Mar 1998). "Targeted disruption of the ubiquitous CNC-bZIP transcription factor, Nrf-1, results in anemia and embryonic lethality in mice". The EMBO Journal. 17 (6): 1779–87. doi:10.1093/emboj/17.6.1779. PMC 1170525. PMID 9501099.
^ "Entrez Gene: NFE2L1 nuclear factor (erythroid-derived 2)-like 1".
^ Husberg C, Murphy P, Martin E, Kolsto AB (May 2001). "Two domains of the human bZIP transcription factor TCF11 are necessary for transactivation" (PDF). The Journal of Biological Chemistry. 276 (21): 17641–52. doi:10.1074/jbc.M007951200. PMID 11278371. S2CID 26136436.
^ Zhang Y, Lucocq JM, Hayes JD (Mar 2009). "The Nrf1 CNC/bZIP protein is a nuclear envelope-bound transcription factor that is activated by t-butyl hydroquinone but not by endoplasmic reticulum stressors" (PDF). The Biochemical Journal. 418 (2): 293–310. doi:10.1042/BJ20081575. PMID 18990090.
^ Wang W, Kwok AM, Chan JY (Aug 2007). "The p65 isoform of Nrf1 is a dominant negative inhibitor of ARE-mediated transcription". The Journal of Biological Chemistry. 282 (34): 24670–8. doi:10.1074/jbc.M700159200. PMID 17609210.
^ Widenmaier SB, Snyder NA, Nguyen TB, Arduini A, Lee GY, Arruda AP, Saksi J, Bartelt A, Hotamisligil GS (November 2017). "NRF1 Is an ER Membrane Sensor that Is Central to Cholesterol Homeostasis". Cell. 171 (5): 1094–1109.e15. doi:10.1016/j.cell.2017.10.003. PMID 29149604.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000082641 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000038615 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Chan_1993-5] Chan JY, Han XL, Kan YW (Dec 1993). "Cloning of Nrf1, an NF-E2-related transcription factor, by genetic selection in yeast". Proceedings of the National Academy of Sciences of the United States of America. 90 (23): 11371–5. Bibcode:1993PNAS...9011371C. doi:10.1073/pnas.90.23.11371. PMC 47984. PMID 8248256.

[Chan_1998-6] Chan JY, Kwong M, Lu R, Chang J, Wang B, Yen TS, Kan YW (Mar 1998). "Targeted disruption of the ubiquitous CNC-bZIP transcription factor, Nrf-1, results in anemia and embryonic lethality in mice". The EMBO Journal. 17 (6): 1779–87. doi:10.1093/emboj/17.6.1779. PMC 1170525. PMID 9501099.

[entrez-7] "Entrez Gene: NFE2L1 nuclear factor (erythroid-derived 2)-like 1".

[8] Husberg C, Murphy P, Martin E, Kolsto AB (May 2001). "Two domains of the human bZIP transcription factor TCF11 are necessary for transactivation" (PDF). The Journal of Biological Chemistry. 276 (21): 17641–52. doi:10.1074/jbc.M007951200. PMID 11278371. S2CID 26136436.

[Zhang_2009-9] Zhang Y, Lucocq JM, Hayes JD (Mar 2009). "The Nrf1 CNC/bZIP protein is a nuclear envelope-bound transcription factor that is activated by t-butyl hydroquinone but not by endoplasmic reticulum stressors" (PDF). The Biochemical Journal. 418 (2): 293–310. doi:10.1042/BJ20081575. PMID 18990090.

[Wang_2007-10] Wang W, Kwok AM, Chan JY (Aug 2007). "The p65 isoform of Nrf1 is a dominant negative inhibitor of ARE-mediated transcription". The Journal of Biological Chemistry. 282 (34): 24670–8. doi:10.1074/jbc.M700159200. PMID 17609210.

[Widenmaier_2017-11] Widenmaier SB, Snyder NA, Nguyen TB, Arduini A, Lee GY, Arruda AP, Saksi J, Bartelt A, Hotamisligil GS (November 2017). "NRF1 Is an ER Membrane Sensor that Is Central to Cholesterol Homeostasis". Cell. 171 (5): 1094–1109.e15. doi:10.1016/j.cell.2017.10.003. PMID 29149604.

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