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Protein

Nuclear factor erythroid 2-related factor 1

Gene

NFE2L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Activates erythroid-specific, globin gene expression.

GO - Molecular functioni

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • cellular response to oxidative stress Source: InterPro
  • erythrocyte differentiation Source: Ensembl
  • heme biosynthetic process Source: ProtInc
  • inflammatory response Source: ProtInc
  • transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ14494.

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear factor erythroid 2-related factor 1
Short name:
NF-E2-related factor 1
Short name:
NFE2-related factor 1
Alternative name(s):
Locus control region-factor 1
Nuclear factor, erythroid derived 2, like 1
Transcription factor 11
Short name:
TCF-11
Transcription factor HBZ17
Transcription factor LCR-F1
Gene namesi
Name:NFE2L1
Synonyms:HBZ17, NRF1, TCF11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:7781. NFE2L1.

Subcellular locationi

  • Endoplasmic reticulum membrane 1 Publication; Single-pass type II membrane protein 1 Publication
  • Nucleus PROSITE-ProRule annotation1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 2418Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31587.

Polymorphism and mutation databases

BioMutaiNFE2L1.
DMDMi3183180.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 772772Nuclear factor erythroid 2-related factor 1PRO_0000076447Add
BLAST

Proteomic databases

MaxQBiQ14494.
PaxDbiQ14494.
PRIDEiQ14494.

PTM databases

PhosphoSiteiQ14494.

Expressioni

Gene expression databases

BgeeiQ14494.
CleanExiHS_NFE2L1.
HS_NRF1.
ExpressionAtlasiQ14494. baseline and differential.
GenevisibleiQ14494. HS.

Organism-specific databases

HPAiHPA065424.

Interactioni

Subunit structurei

Interacts with KEAP1.1 Publication

Protein-protein interaction databases

BioGridi110851. 15 interactions.
IntActiQ14494. 8 interactions.
STRINGi9606.ENSP00000354855.

Structurei

3D structure databases

ProteinModelPortaliQ14494.
SMRiQ14494. Positions 612-714.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini654 – 71764bZIPPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni656 – 67520Basic motifPROSITE-ProRule annotationAdd
BLAST
Regioni682 – 69615Leucine-zipperPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi125 – 288164Asp/Glu-rich (acidic)Add
BLAST
Compositional biasi496 – 51722Poly-SerAdd
BLAST

Sequence similaritiesi

Belongs to the bZIP family. CNC subfamily.Curated
Contains 1 bZIP (basic-leucine zipper) domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG309753.
GeneTreeiENSGT00550000074399.
HOGENOMiHOG000234410.
HOVERGENiHBG052609.
InParanoidiQ14494.
KOiK09040.
OMAiHKHSGPS.
OrthoDBiEOG715Q3N.
PhylomeDBiQ14494.
TreeFamiTF326681.

Family and domain databases

Gene3Di1.10.880.10. 1 hit.
InterProiIPR004827. bZIP.
IPR004826. bZIP_Maf.
IPR029847. Nrf1.
IPR008917. TF_DNA-bd.
[Graphical view]
PANTHERiPTHR24411:SF26. PTHR24411:SF26. 1 hit.
PfamiPF03131. bZIP_Maf. 1 hit.
[Graphical view]
SMARTiSM00338. BRLZ. 1 hit.
[Graphical view]
SUPFAMiSSF47454. SSF47454. 1 hit.
PROSITEiPS50217. BZIP. 1 hit.
PS00036. BZIP_BASIC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14494-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLSLKKYLTE GLLQFTILLS LIGVRVDVDT YLTSQLPPLR EIILGPSSAY
60 70 80 90 100
TQTQFHNLRN TLDGYGIHPK SIDLDNYFTA RRLLSQVRAL DRFQVPTTEV
110 120 130 140 150
NAWLVHRDPE GSVSGSQPNS GLALESSSGL QDVTGPDNGV RESETEQGFG
160 170 180 190 200
EDLEDLGAVA PPVSGDLTKE DIDLIDILWR QDIDLGAGRE VFDYSHRQKE
210 220 230 240 250
QDVEKELRDG GEQDTWAGEG AEALARNLLV DGETGESFPA QVPSGEDQTA
260 270 280 290 300
LSLEECLRLL EATCPFGENA EFPADISSIT EAVPSESEPP ALQNNLLSPL
310 320 330 340 350
LTGTESPFDL EQQWQDLMSI MEMQAMEVNT SASEILYSAP PGDPLSTNYS
360 370 380 390 400
LAPNTPINQN VSLHQASLGG CSQDFLLFSP EVESLPVASS STLLPLAPSN
410 420 430 440 450
STSLNSTFGS TNLTGLFFPP QLNGTANDTA GPELPDPLGG LLDEAMLDEI
460 470 480 490 500
SLMDLAIEEG FNPVQASQLE EEFDSDSGLS LDSSHSPSSL SSSEGSSSSS
510 520 530 540 550
SSSSSSSSSA SSSASSSFSE EGAVGYSSDS ETLDLEEAEG AVGYQPEYSK
560 570 580 590 600
FCRMSYQDPA QLSCLPYLEH VGHNHTYNMA PSALDSADLP PPSALKKGSK
610 620 630 640 650
EKQADFLDKQ MSRDEHRARA MKIPFTNDKI INLPVEEFNE LLSKYQLSEA
660 670 680 690 700
QLSLIRDIRR RGKNKMAAQN CRKRKLDTIL NLERDVEDLQ RDKARLLREK
710 720 730 740 750
VEFLRSLRQM KQKVQSLYQE VFGRLRDENG RPYSPSQYAL QYAGDGSVLL
760 770
IPRTMADQQA RRQERKPKDR RK
Length:772
Mass (Da):84,704
Last modified:November 1, 1996 - v1
Checksum:iC868807C6046BEF5
GO
Isoform 2 (identifier: Q14494-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     242-271: Missing.

Show »
Length:742
Mass (Da):81,499
Checksum:iB99AAEF1C5F598E6
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631D → H.
Corresponds to variant rs2229367 [ dbSNP | Ensembl ].
VAR_048440

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei242 – 27130Missing in isoform 2. 2 PublicationsVSP_000579Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L24123 mRNA. No translation available.
X77366 mRNA. Translation: CAA54555.1.
CH471109 Genomic DNA. Translation: EAW94762.1.
CH471109 Genomic DNA. Translation: EAW94763.1.
CH471109 Genomic DNA. Translation: EAW94764.1.
CH471109 Genomic DNA. Translation: EAW94765.1.
CH471109 Genomic DNA. Translation: EAW94766.1.
CH471109 Genomic DNA. Translation: EAW94767.1.
BC010623 mRNA. Translation: AAH10623.1.
U08853 mRNA. Translation: AAA20466.1.
CCDSiCCDS11524.1. [Q14494-1]
PIRiA49672.
A55004.
RefSeqiNP_003195.1. NM_003204.2. [Q14494-1]
XP_005257467.1. XM_005257410.2. [Q14494-1]
XP_005257469.1. XM_005257412.2. [Q14494-2]
XP_005257470.1. XM_005257413.2. [Q14494-2]
UniGeneiHs.514284.

Genome annotation databases

EnsembliENST00000357480; ENSP00000350072; ENSG00000082641. [Q14494-2]
ENST00000362042; ENSP00000354855; ENSG00000082641. [Q14494-1]
ENST00000585291; ENSP00000461960; ENSG00000082641. [Q14494-2]
GeneIDi4779.
KEGGihsa:4779.
UCSCiuc002imz.4. human. [Q14494-1]
uc002ina.4. human. [Q14494-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L24123 mRNA. No translation available.
X77366 mRNA. Translation: CAA54555.1.
CH471109 Genomic DNA. Translation: EAW94762.1.
CH471109 Genomic DNA. Translation: EAW94763.1.
CH471109 Genomic DNA. Translation: EAW94764.1.
CH471109 Genomic DNA. Translation: EAW94765.1.
CH471109 Genomic DNA. Translation: EAW94766.1.
CH471109 Genomic DNA. Translation: EAW94767.1.
BC010623 mRNA. Translation: AAH10623.1.
U08853 mRNA. Translation: AAA20466.1.
CCDSiCCDS11524.1. [Q14494-1]
PIRiA49672.
A55004.
RefSeqiNP_003195.1. NM_003204.2. [Q14494-1]
XP_005257467.1. XM_005257410.2. [Q14494-1]
XP_005257469.1. XM_005257412.2. [Q14494-2]
XP_005257470.1. XM_005257413.2. [Q14494-2]
UniGeneiHs.514284.

3D structure databases

ProteinModelPortaliQ14494.
SMRiQ14494. Positions 612-714.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110851. 15 interactions.
IntActiQ14494. 8 interactions.
STRINGi9606.ENSP00000354855.

PTM databases

PhosphoSiteiQ14494.

Polymorphism and mutation databases

BioMutaiNFE2L1.
DMDMi3183180.

Proteomic databases

MaxQBiQ14494.
PaxDbiQ14494.
PRIDEiQ14494.

Protocols and materials databases

DNASUi4779.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357480; ENSP00000350072; ENSG00000082641. [Q14494-2]
ENST00000362042; ENSP00000354855; ENSG00000082641. [Q14494-1]
ENST00000585291; ENSP00000461960; ENSG00000082641. [Q14494-2]
GeneIDi4779.
KEGGihsa:4779.
UCSCiuc002imz.4. human. [Q14494-1]
uc002ina.4. human. [Q14494-2]

Organism-specific databases

CTDi4779.
GeneCardsiGC17P046125.
HGNCiHGNC:7781. NFE2L1.
HPAiHPA065424.
MIMi163260. gene.
neXtProtiNX_Q14494.
PharmGKBiPA31587.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG309753.
GeneTreeiENSGT00550000074399.
HOGENOMiHOG000234410.
HOVERGENiHBG052609.
InParanoidiQ14494.
KOiK09040.
OMAiHKHSGPS.
OrthoDBiEOG715Q3N.
PhylomeDBiQ14494.
TreeFamiTF326681.

Enzyme and pathway databases

SignaLinkiQ14494.

Miscellaneous databases

ChiTaRSiNFE2L1. human.
GeneWikiiNFE2L1.
GenomeRNAii4779.
NextBioi18428.
PROiQ14494.
SOURCEiSearch...

Gene expression databases

BgeeiQ14494.
CleanExiHS_NFE2L1.
HS_NRF1.
ExpressionAtlasiQ14494. baseline and differential.
GenevisibleiQ14494. HS.

Family and domain databases

Gene3Di1.10.880.10. 1 hit.
InterProiIPR004827. bZIP.
IPR004826. bZIP_Maf.
IPR029847. Nrf1.
IPR008917. TF_DNA-bd.
[Graphical view]
PANTHERiPTHR24411:SF26. PTHR24411:SF26. 1 hit.
PfamiPF03131. bZIP_Maf. 1 hit.
[Graphical view]
SMARTiSM00338. BRLZ. 1 hit.
[Graphical view]
SUPFAMiSSF47454. SSF47454. 1 hit.
PROSITEiPS50217. BZIP. 1 hit.
PS00036. BZIP_BASIC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of Nrf1, an NF-E2-related transcription factor, by genetic selection in yeast."
    Chan J.Y., Han X.-L., Kan Y.W.
    Proc. Natl. Acad. Sci. U.S.A. 90:11371-11375(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "Molecular cloning of a putative novel human bZIP transcription factor on chromosome 17q22."
    Luna L., Johnsen O., Skartlien A.H., Pedeutour F., Turc-Carel C., Prydz H., Kolstoe A.-B.
    Genomics 22:553-562(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Eye.
  5. "Cloning and functional characterization of LCR-F1: a bZIP transcription factor that activates erythroid-specific, human globin gene expression."
    Caterina J.J., Donze D., Sun C.W., Ciavatta D.J., Townes T.M.
    Nucleic Acids Res. 22:2383-2391(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 326-772.
  6. "Nrf1 is targeted to the endoplasmic reticulum membrane by an N-terminal transmembrane domain. Inhibition of nuclear translocation and transacting function."
    Wang W., Chan J.Y.
    J. Biol. Chem. 281:19676-19687(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH KEAP1.

Entry informationi

Entry nameiNF2L1_HUMAN
AccessioniPrimary (citable) accession number: Q14494
Secondary accession number(s): D3DTU3
, D3DTU5, Q12877, Q96FN6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: June 24, 2015
This is version 144 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.