• Gene id: 4779

Gene Summary

• Gene Symbol: NFE2L1   Gene   UCSC   Ensembl
• Aliases: LCR-F1, NRF1, TCF11
• Gene name: nuclear factor, erythroid 2 like 1
• Alternate names: endoplasmic reticulum membrane sensor NFE2L1, NF-E2-related factor 1, NFE2-related factor 1, TCF-11, locus control region-factor 1, nuclear factor erythroid 2-related factor 1, nuclear factor, erythroid derived 2, like 1, protein NRF1, p120 form, transcription fa,
• Gene location: 17q21.32 (48048358: 48061544)     Exons: 7     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 126350

Protein Summary

• Protein general information: Q14494  
  • Name: Endoplasmic reticulum membrane sensor NFE2L1 (Locus control region factor 1) (LCR F1) (Nuclear factor erythroid 2 related factor 1) (NF E2 related factor 1) (NFE2 related factor 1) (Nuclear factor, erythroid derived 2, like 1) (Protein NRF1, p120 form) (T
  • Length: 772  
  • Mass: 84704
• Sequence:

  MLSLKKYLTEGLLQFTILLSLIGVRVDVDTYLTSQLPPLREIILGPSSAYTQTQFHNLRNTLDGYGIHPKSIDLD
  NYFTARRLLSQVRALDRFQVPTTEVNAWLVHRDPEGSVSGSQPNSGLALESSSGLQDVTGPDNGVRESETEQGFG
  EDLEDLGAVAPPVSGDLTKEDIDLIDILWRQDIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALA
  RNLLVDGETGESFPAQVPSGEDQTALSLEECLRLLEATCPFGENAEFPADISSITEAVPSESEPPALQNNLLSPL
  LTGTESPFDLEQQWQDLMSIMEMQAMEVNTSASEILYSAPPGDPLSTNYSLAPNTPINQNVSLHQASLGGCSQDF
  LLFSPEVESLPVASSSTLLPLAPSNSTSLNSTFGSTNLTGLFFPPQLNGTANDTAGPELPDPLGGLLDEAMLDEI
  SLMDLAIEEGFNPVQASQLEEEFDSDSGLSLDSSHSPSSLSSSEGSSSSSSSSSSSSSSASSSASSSFSEEGAVG
  YSSDSETLDLEEAEGAVGYQPEYSKFCRMSYQDPAQLSCLPYLEHVGHNHTYNMAPSALDSADLPPPSALKKGSK
  EKQADFLDKQMSRDEHRARAMKIPFTNDKIINLPVEEFNELLSKYQLSEAQLSLIRDIRRRGKNKMAAQNCRKRK
  LDTILNLERDVEDLQRDKARLLREKVEFLRSLRQMKQKVQSLYQEVFGRLRDENGRPYSPSQYALQYAGDGSVLL
  IPRTMADQQARRQERKPKDRRK

• Structural information:
  • Protein Domains: (654..71-)
    (/note="bZIP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00978"-)
  • Interpro: IPR004827  IPR004826  IPR029847  IPR008917  
  • Prosite: PS50217 PS00036
  • STRING: ENSP00000354855
• Other Databases: GeneCards:  NFE2L1  Malacards:  NFE2L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003712	transcription coregulator activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0006954	inflammatory response	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:1903353	regulation of nucleus organization	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0042883	cysteine transport	IEA	biological process
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0021781	glial cell fate commitment	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0019725	cellular homeostasis	IEA	biological process
GO:0019217	regulation of fatty acid metabolic process	IEA	biological process
GO:0019216	regulation of lipid metabolic process	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:1905897	regulation of response to endoplasmic reticulum stress	IEA	biological process
GO:0071397	cellular response to cholesterol	IEA	biological process
GO:0071280	cellular response to copper ion	IEA	biological process
GO:0070417	cellular response to cold	IEA	biological process
GO:0061136	regulation of proteasomal protein catabolic process	IEA	biological process
GO:0051156	glucose 6-phosphate metabolic process	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0015485	cholesterol binding	IEA	molecular function
GO:0010906	regulation of glucose metabolic process	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0007088	regulation of mitotic nuclear division	IEA	biological process
GO:0006749	glutathione metabolic process	IEA	biological process
GO:0006002	fructose 6-phosphate metabolic process	IEA	biological process
GO:0000209	protein polyubiquitination	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray