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NFE2L1 nuclear factor, erythroid 2 like 1 [ Homo sapiens (human) ]

Gene ID: 4779, updated on 25-Oct-2020

Summary

Official Symbol
NFE2L1provided by HGNC
Official Full Name
nuclear factor, erythroid 2 like 1provided by HGNC
Primary source
HGNC:HGNC:7781
See related
Ensembl:ENSG00000082641 MIM:163260
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NRF1; TCF11; LCR-F1
Summary
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]
Annotation information
Note: NRF1 (Gene ID: 4899) and NFE2L1 (Gene ID: 4779) share the NRF1 symbol/alias in common. NRF1 is a widely used alternative name for nuclear factor, erythroid 2 like 1 (NFE2L1), which can be confused with the official symbol for nuclear respiratory factor 1 (NRF1). [05 Jul 2018]
Expression
Ubiquitous expression in heart (RPKM 133.9), kidney (RPKM 94.6) and 24 other tissues See more
Orthologs

Genomic context

See NFE2L1 in Genome Data Viewer
Location:
17q21.32
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (48048359..48061545)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46125686..46138907)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene COPI coat complex subunit zeta 2 Neighboring gene microRNA 10226 Neighboring gene microRNA 152 Neighboring gene chromobox 1 Neighboring gene RNA, U6 small nuclear 1201, pseudogene Neighboring gene sorting nexin 11

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
GeneReviews: Not available
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00380

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
cholesterol binding IEA
Inferred from Electronic Annotation
more info
 
promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular response to cholesterol IEA
Inferred from Electronic Annotation
more info
 
cellular response to cold IEA
Inferred from Electronic Annotation
more info
 
cellular response to copper ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
cholesterol homeostasis IEA
Inferred from Electronic Annotation
more info
 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
cysteine transport IEA
Inferred from Electronic Annotation
more info
 
erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
fructose 6-phosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
glial cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
glucose 6-phosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
glutathione metabolic process IEA
Inferred from Electronic Annotation
more info
 
heme biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein polyubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
regulation of nucleus organization IEA
Inferred from Electronic Annotation
more info
 
regulation of proteasomal protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
 
spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
endoplasmic reticulum membrane sensor NFE2L1
Names
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 factor 11 (basic leucine zipper type)
transcription factor HBZ17
transcription factor LCR-F1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001330261.2NP_001317190.1  endoplasmic reticulum membrane sensor NFE2L1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC004477, BM971272
    Consensus CDS
    CCDS82151.1
    UniProtKB/TrEMBL
    J9JIE5
    Conserved Domains (1) summary
    cd14720
    Location:640707
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
  2. NM_001330262.2NP_001317191.1  endoplasmic reticulum membrane sensor NFE2L1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC004477, BM971272, DB097304, L24123
    Consensus CDS
    CCDS82150.1
    UniProtKB/Swiss-Prot
    Q14494
    Related
    ENSP00000350072.5, ENST00000357480.9
    Conserved Domains (1) summary
    cd14720
    Location:621688
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
  3. NM_003204.3NP_003195.1  endoplasmic reticulum membrane sensor NFE2L1 isoform 1

    See identical proteins and their annotated locations for NP_003195.1

    Status: VALIDATED

    Source sequence(s)
    AC004477, AK090459, BM983473, DA230932, DB097304, U08853
    Consensus CDS
    CCDS11524.1
    UniProtKB/Swiss-Prot
    Q14494
    UniProtKB/TrEMBL
    Q8NF22
    Related
    ENSP00000354855.3, ENST00000362042.8
    Conserved Domains (1) summary
    cd14720
    Location:651718
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    48048359..48061545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257410.4XP_005257467.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X1

    See identical proteins and their annotated locations for XP_005257467.1

    UniProtKB/Swiss-Prot
    Q14494
    UniProtKB/TrEMBL
    Q8NF22
    Conserved Domains (1) summary
    cd14720
    Location:651718
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
  2. XM_005257415.4XP_005257472.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X4

    See identical proteins and their annotated locations for XP_005257472.1

    Conserved Domains (1) summary
    cd14720
    Location:610677
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
  3. XM_005257412.4XP_005257469.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X3

    See identical proteins and their annotated locations for XP_005257469.1

    UniProtKB/Swiss-Prot
    Q14494
    Conserved Domains (1) summary
    cd14720
    Location:621688
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
  4. XM_005257411.4XP_005257468.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X2

    See identical proteins and their annotated locations for XP_005257468.1

    UniProtKB/TrEMBL
    J9JIE5
    Related
    ENSP00000355190.3, ENST00000361665.7
    Conserved Domains (1) summary
    cd14720
    Location:640707
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
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