NFE2L1
Endoplasmic reticulum membrane sensor NFE2L1
Also known as: FLJ00380, LCR-F1, NF2L1_HUMAN, NRF-1, NRF1, TCF11
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14494
- Gene
- NFE2L1
- Ensembl
- ENSG00000082641
- Chromosome
- 17
- Canonical length
- 772 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cytosol
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
772 residues, UniProt reviewed canonical sequence.
>Q14494|NFE2L1
1 MLSLKKYLTE GLLQFTILLS LIGVRVDVDT YLTSQLPPLR EIILGPSSAY TQTQFHNLRN
61 TLDGYGIHPK SIDLDNYFTA RRLLSQVRAL DRFQVPTTEV NAWLVHRDPE GSVSGSQPNS
121 GLALESSSGL QDVTGPDNGV RESETEQGFG EDLEDLGAVA PPVSGDLTKE DIDLIDILWR
181 QDIDLGAGRE VFDYSHRQKE QDVEKELRDG GEQDTWAGEG AEALARNLLV DGETGESFPA
241 QVPSGEDQTA LSLEECLRLL EATCPFGENA EFPADISSIT EAVPSESEPP ALQNNLLSPL
301 LTGTESPFDL EQQWQDLMSI MEMQAMEVNT SASEILYSAP PGDPLSTNYS LAPNTPINQN
361 VSLHQASLGG CSQDFLLFSP EVESLPVASS STLLPLAPSN STSLNSTFGS TNLTGLFFPP
421 QLNGTANDTA GPELPDPLGG LLDEAMLDEI SLMDLAIEEG FNPVQASQLE EEFDSDSGLS
481 LDSSHSPSSL SSSEGSSSSS SSSSSSSSSA SSSASSSFSE EGAVGYSSDS ETLDLEEAEG
541 AVGYQPEYSK FCRMSYQDPA QLSCLPYLEH VGHNHTYNMA PSALDSADLP PPSALKKGSK
601 EKQADFLDKQ MSRDEHRARA MKIPFTNDKI INLPVEEFNE LLSKYQLSEA QLSLIRDIRR
661 RGKNKMAAQN CRKRKLDTIL NLERDVEDLQ RDKARLLREK VEFLRSLRQM KQKVQSLYQE
721 VFGRLRDENG RPYSPSQYAL QYAGDGSVLL IPRTMADQQA RRQERKPKDR RKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NFE2L1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.61
- Highest tissue expression
- 1,273 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 1,273 nTPM
- tongue: 801 nTPM
- heart muscle: 403 nTPM
- choroid plexus: 230 nTPM
- kidney: 149 nTPM
- blood vessel: 147 nTPM
Single-cell type
- thymic myoid cells: 354 nCPM
- corticotrophs: 167 nCPM
- hepatocytes: 140 nCPM
- retinal pigment epithelial cells: 132 nCPM
- myonuclei: 129 nCPM
- epididymal efferent duct ciliated cells: 126 nCPM
Immune cell
- neutrophil: 26 nTPM
- basophil: 14 nTPM
- plasmacytoid DC: 13 nTPM
- classical monocyte: 12 nTPM
- non-classical monocyte: 8.8 nTPM
- intermediate monocyte: 6.5 nTPM
Brain region
- choroid plexus: 477 nTPM
- hypothalamus: 316 nTPM
- white matter: 287 nTPM
- midbrain: 285 nTPM
- pons: 283 nTPM
- medulla oblongata: 276 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.25
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.76
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anatomical structure morphogenesis
- cellular homeostasis
- cellular response to cholesterol
- cellular response to cold
- cellular response to copper ion
- cholesterol homeostasis
- cholesterol metabolic process
- cysteine transport
- erythrocyte differentiation
- fructose 6-phosphate metabolic process
- glial cell fate commitment
- glucose 6-phosphate metabolic process
- glutathione metabolic process
- heme biosynthetic process
- protein polyubiquitination
- regulation of fatty acid metabolic process
- regulation of glucose metabolic process
- regulation of inflammatory response
- regulation of mitotic nuclear division
- regulation of proteasomal protein catabolic process
- regulation of response to endoplasmic reticulum stress
- regulation of transcription by RNA polymerase II
- response to endoplasmic reticulum stress
- spinal cord motor neuron differentiation
- regulation of nucleus organization
Molecular functions
- cholesterol binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- identical protein binding
- promoter-specific chromatin binding
- protein domain specific binding
- protein-containing complex binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NFE2L1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NFE2L1 as an antibody target. Whether an autoantibody or antibody against NFE2L1 could matter depends on whether native NFE2L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NFE2L1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NFE2L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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