Human Gene NFE2L1 (ENST00000362042.8) from GENCODE V44
  Description: Homo sapiens nuclear factor, erythroid 2 like 1 (NFE2L1), transcript variant 1, mRNA. (from RefSeq NM_003204)
RefSeq Summary (NM_003204): 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]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000362042.8
Gencode Gene: ENSG00000082641.16
Transcript (Including UTRs)
   Position: hg38 chr17:48,048,359-48,061,545 Size: 13,187 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr17:48,051,119-48,059,641 Size: 8,523 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:48,048,359-48,061,545)mRNA (may differ from genome)Protein (772 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NF2L1_HUMAN
DESCRIPTION: RecName: Full=Nuclear factor erythroid 2-related factor 1; Short=NF-E2-related factor 1; Short=NFE2-related factor 1; AltName: Full=Locus control region-factor 1; AltName: Full=Nuclear factor, erythroid derived 2, like 1; AltName: Full=Transcription factor 11; Short=TCF-11; AltName: Full=Transcription factor HBZ17; AltName: Full=Transcription factor LCR-F1;
FUNCTION: Activates erythroid-specific, globin gene expression.
SUBUNIT: Interacts with KEAP1.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Nucleus.
SIMILARITY: Belongs to the bZIP family. CNC subfamily.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 307.58 RPKM in Muscle - Skeletal
Total median expression: 3262.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -221.80616-0.360 Picture PostScript Text
3' UTR -699.401904-0.367 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004827 - bZIP
IPR008917 - Euk_TF_DNA-bd

Pfam Domains:
PF00170 - bZIP transcription factor

ModBase Predicted Comparative 3D Structure on Q14494
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003712 transcription cofactor activity
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0015485 cholesterol binding
GO:0019904 protein domain specific binding
GO:0044877 macromolecular complex binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0006629 lipid metabolic process
GO:0006783 heme biosynthetic process
GO:0006954 inflammatory response
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0009653 anatomical structure morphogenesis
GO:0030218 erythrocyte differentiation
GO:0034599 cellular response to oxidative stress
GO:0036003 positive regulation of transcription from RNA polymerase II promoter in response to stress
GO:0042632 cholesterol homeostasis
GO:0045454 cell redox homeostasis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0055088 lipid homeostasis
GO:0071397 cellular response to cholesterol
GO:0097201 negative regulation of transcription from RNA polymerase II promoter in response to stress
GO:1901329 regulation of odontoblast differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  BC010623 - Homo sapiens nuclear factor (erythroid-derived 2)-like 1, mRNA (cDNA clone MGC:9037 IMAGE:3871147), complete cds.
AK090459 - Homo sapiens mRNA for FLJ00380 protein.
AL833530 - Homo sapiens mRNA; cDNA DKFZp686K2237 (from clone DKFZp686K2237).
L24123 - Homo sapiens NRF1 protein (NRF1) mRNA.
X77366 - H.sapiens HBZ17 mRNA.
JD429553 - Sequence 410577 from Patent EP1572962.
BX647976 - Homo sapiens mRNA; cDNA DKFZp686G2152 (from clone DKFZp686G2152).
JD389603 - Sequence 370627 from Patent EP1572962.
JD080935 - Sequence 61959 from Patent EP1572962.
JD060991 - Sequence 42015 from Patent EP1572962.
JD101079 - Sequence 82103 from Patent EP1572962.
JD137975 - Sequence 118999 from Patent EP1572962.
BC131769 - Homo sapiens nuclear factor (erythroid-derived 2)-like 1, mRNA (cDNA clone IMAGE:40122458), partial cds.
JD273889 - Sequence 254913 from Patent EP1572962.
JD470876 - Sequence 451900 from Patent EP1572962.
JD443973 - Sequence 424997 from Patent EP1572962.
AB384427 - Synthetic construct DNA, clone: pF1KSDF0380, Homo sapiens NFE2L1 gene for nuclear factor erythroid 2-related factor 1, complete cds, without stop codon, in Flexi system.
DQ893308 - Synthetic construct clone IMAGE:100005938; FLH168982.01X; RZPDo839F0394D nuclear factor (erythroid-derived 2)-like 1 (NFE2L1) gene, encodes complete protein.
DQ894244 - Synthetic construct Homo sapiens clone IMAGE:100008704; FLH168978.01L; RZPDo839F0393D nuclear factor (erythroid-derived 2)-like 1 (NFE2L1) gene, encodes complete protein.
KJ901602 - Synthetic construct Homo sapiens clone ccsbBroadEn_10996 NFE2L1 gene, encodes complete protein.
AK302387 - Homo sapiens cDNA FLJ53241 complete cds, highly similar to Nuclear factor erythroid 2-related factor 1.
AK294553 - Homo sapiens cDNA FLJ55327 complete cds, highly similar to Nuclear factor erythroid 2-related factor 1.
U08853 - Human transcription factor LCR-F1 mRNA, complete cds.
JD076937 - Sequence 57961 from Patent EP1572962.
JD436400 - Sequence 417424 from Patent EP1572962.
JD173516 - Sequence 154540 from Patent EP1572962.
JD223390 - Sequence 204414 from Patent EP1572962.
JD039018 - Sequence 20042 from Patent EP1572962.
JD127551 - Sequence 108575 from Patent EP1572962.
JD313857 - Sequence 294881 from Patent EP1572962.
JD340321 - Sequence 321345 from Patent EP1572962.
JD310582 - Sequence 291606 from Patent EP1572962.
JD488831 - Sequence 469855 from Patent EP1572962.
JD183546 - Sequence 164570 from Patent EP1572962.
JD374651 - Sequence 355675 from Patent EP1572962.
JD498496 - Sequence 479520 from Patent EP1572962.
JD220633 - Sequence 201657 from Patent EP1572962.
JD316706 - Sequence 297730 from Patent EP1572962.
JD549370 - Sequence 530394 from Patent EP1572962.
JD101088 - Sequence 82112 from Patent EP1572962.
JD247587 - Sequence 228611 from Patent EP1572962.
JD269510 - Sequence 250534 from Patent EP1572962.
JD533359 - Sequence 514383 from Patent EP1572962.
JD396546 - Sequence 377570 from Patent EP1572962.
JD131411 - Sequence 112435 from Patent EP1572962.
JD310946 - Sequence 291970 from Patent EP1572962.
JD225676 - Sequence 206700 from Patent EP1572962.
JD060690 - Sequence 41714 from Patent EP1572962.
JD290996 - Sequence 272020 from Patent EP1572962.
JD320845 - Sequence 301869 from Patent EP1572962.
JD382903 - Sequence 363927 from Patent EP1572962.
JD306189 - Sequence 287213 from Patent EP1572962.
JD184602 - Sequence 165626 from Patent EP1572962.
JD170966 - Sequence 151990 from Patent EP1572962.
JD350083 - Sequence 331107 from Patent EP1572962.
JD442242 - Sequence 423266 from Patent EP1572962.
JD164613 - Sequence 145637 from Patent EP1572962.
JD451112 - Sequence 432136 from Patent EP1572962.
JD318271 - Sequence 299295 from Patent EP1572962.
JD400645 - Sequence 381669 from Patent EP1572962.
JD526637 - Sequence 507661 from Patent EP1572962.
JD308549 - Sequence 289573 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DTU3, D3DTU5, ENST00000362042.1, ENST00000362042.2, ENST00000362042.3, ENST00000362042.4, ENST00000362042.5, ENST00000362042.6, ENST00000362042.7, HBZ17, NF2L1_HUMAN, NM_003204, NRF1, Q12877, Q14494, Q96FN6, TCF11, uc002imz.1, uc002imz.2, uc002imz.3, uc002imz.4, uc002imz.5, uc002imz.6
UCSC ID: ENST00000362042.8
RefSeq Accession: NM_003204
Protein: Q14494 (aka NF2L1_HUMAN)
CCDS: CCDS11524.1, CCDS82150.1, CCDS82151.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.