Human Gene NFE2L1 (uc002inb.4) Description and Page Index
  Description: Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.
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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK090459.1, X77366.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000362042.8/ ENSP00000354855.3 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr17:46,125,686-46,138,907 Size: 13,222 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr17:46,128,481-46,137,003 Size: 8,523 Coding Exon Count: 4 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
Model InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:46,125,686-46,138,907)mRNA (may differ from genome)Protein (742 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NFE2L1
CDC HuGE Published Literature: NFE2L1
Positive Disease Associations: Body Mass Index
Related Studies:
  1. Body Mass Index
    Elizabeth K Speliotes et al. Nature genetics 2010, Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index., Nature genetics. [PubMed 20935630]

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -251.82651-0.387 Picture PostScript Text
3' UTR -728.971904-0.383 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
  Pfam Domains:
PF03131 - bZIP Maf transcription factor

SCOP Domains:
47454 - A DNA-binding domain in eukaryotic transcription factors

ModBase Predicted Comparative 3D Structure on Q14494-2
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  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.
BX647976 - Homo sapiens mRNA; cDNA DKFZp686G2152 (from clone DKFZp686G2152).
U08853 - Human transcription factor LCR-F1 mRNA, complete cds.
JD313857 - Sequence 294881 from Patent EP1572962.
JD429553 - Sequence 410577 from Patent EP1572962.
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.
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.
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.
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: HBZ17, L24123, NM_003204, NP_003195, NRF1, Q14494-2, TCF11
UCSC ID: uc002inb.4
RefSeq Accession: NM_003204
Protein: Q14494-2, splice isoform of Q14494 CCDS: CCDS11524.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: L24123.1
exon count: 5CDS single in 3' UTR: no RNA size: 4992
ORF size: 2229CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 4545.50frame shift in genome: no % Coverage: 93.51
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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