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Q14494

- NF2L1_HUMAN

UniProt

Q14494 - NF2L1_HUMAN

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Protein
Nuclear factor erythroid 2-related factor 1
Gene
NFE2L1, HBZ17, NRF1, TCF11
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Activates erythroid-specific, globin gene expression.

GO - Molecular functioni

  1. RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  2. sequence-specific DNA binding Source: InterPro
  3. sequence-specific DNA binding transcription factor activity Source: ProtInc
  4. transcription cofactor activity Source: ProtInc
Complete GO annotation...

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. erythrocyte differentiation Source: Ensembl
  3. heme biosynthetic process Source: ProtInc
  4. inflammatory response Source: ProtInc
  5. 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: Chromosome 17

Organism-specific databases

HGNCiHGNC:7781. NFE2L1.

Subcellular locationi

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Nucleus 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 2418Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
  3. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31587.

PTM / Processingi

Molecule processing

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

Proteomic databases

MaxQBiQ14494.
PaxDbiQ14494.
PRIDEiQ14494.

PTM databases

PhosphoSiteiQ14494.

Expressioni

Gene expression databases

ArrayExpressiQ14494.
BgeeiQ14494.
CleanExiHS_NFE2L1.
HS_NRF1.
GenevestigatoriQ14494.

Organism-specific databases

HPAiHPA055876.

Interactioni

Subunit structurei

Interacts with KEAP1.1 Publication

Protein-protein interaction databases

BioGridi110851. 16 interactions.
IntActiQ14494. 8 interactions.
STRINGi9606.ENSP00000355190.

Structurei

3D structure databases

ProteinModelPortaliQ14494.
SMRiQ14494. Positions 612-714.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini654 – 71764bZIP
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni656 – 67520Basic motif By similarity
Add
BLAST
Regioni682 – 69615Leucine-zipper By similarity
Add
BLAST

Compositional bias

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

Sequence similaritiesi

Belongs to the bZIP family. CNC subfamily.

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.880.10. 1 hit.
InterProiIPR004827. bZIP.
IPR004826. bZIP_Maf.
IPR008917. TF_DNA-bd.
[Graphical view]
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. Align

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

MLSLKKYLTE GLLQFTILLS LIGVRVDVDT YLTSQLPPLR EIILGPSSAY    50
TQTQFHNLRN TLDGYGIHPK SIDLDNYFTA RRLLSQVRAL DRFQVPTTEV 100
NAWLVHRDPE GSVSGSQPNS GLALESSSGL QDVTGPDNGV RESETEQGFG 150
EDLEDLGAVA PPVSGDLTKE DIDLIDILWR QDIDLGAGRE VFDYSHRQKE 200
QDVEKELRDG GEQDTWAGEG AEALARNLLV DGETGESFPA QVPSGEDQTA 250
LSLEECLRLL EATCPFGENA EFPADISSIT EAVPSESEPP ALQNNLLSPL 300
LTGTESPFDL EQQWQDLMSI MEMQAMEVNT SASEILYSAP PGDPLSTNYS 350
LAPNTPINQN VSLHQASLGG CSQDFLLFSP EVESLPVASS STLLPLAPSN 400
STSLNSTFGS TNLTGLFFPP QLNGTANDTA GPELPDPLGG LLDEAMLDEI 450
SLMDLAIEEG FNPVQASQLE EEFDSDSGLS LDSSHSPSSL SSSEGSSSSS 500
SSSSSSSSSA SSSASSSFSE EGAVGYSSDS ETLDLEEAEG AVGYQPEYSK 550
FCRMSYQDPA QLSCLPYLEH VGHNHTYNMA PSALDSADLP PPSALKKGSK 600
EKQADFLDKQ MSRDEHRARA MKIPFTNDKI INLPVEEFNE LLSKYQLSEA 650
QLSLIRDIRR RGKNKMAAQN CRKRKLDTIL NLERDVEDLQ RDKARLLREK 700
VEFLRSLRQM KQKVQSLYQE VFGRLRDENG RPYSPSQYAL QYAGDGSVLL 750
IPRTMADQQA RRQERKPKDR RK 772
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.
VSP_000579Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005257410.1. [Q14494-1]
XP_005257469.1. XM_005257412.1. [Q14494-2]
XP_005257470.1. XM_005257413.1. [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]

Polymorphism databases

DMDMi3183180.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11524.1. [Q14494-1 ]
PIRi A49672.
A55004.
RefSeqi NP_003195.1. NM_003204.2. [Q14494-1 ]
XP_005257467.1. XM_005257410.1. [Q14494-1 ]
XP_005257469.1. XM_005257412.1. [Q14494-2 ]
XP_005257470.1. XM_005257413.1. [Q14494-2 ]
UniGenei Hs.514284.

3D structure databases

ProteinModelPortali Q14494.
SMRi Q14494. Positions 612-714.
ModBasei Search...

Protein-protein interaction databases

BioGridi 110851. 16 interactions.
IntActi Q14494. 8 interactions.
STRINGi 9606.ENSP00000355190.

PTM databases

PhosphoSitei Q14494.

Polymorphism databases

DMDMi 3183180.

Proteomic databases

MaxQBi Q14494.
PaxDbi Q14494.
PRIDEi Q14494.

Protocols and materials databases

DNASUi 4779.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000357480 ; ENSP00000350072 ; ENSG00000082641 . [Q14494-2 ]
ENST00000362042 ; ENSP00000354855 ; ENSG00000082641 . [Q14494-1 ]
ENST00000585291 ; ENSP00000461960 ; ENSG00000082641 . [Q14494-2 ]
GeneIDi 4779.
KEGGi hsa:4779.
UCSCi uc002imz.4. human. [Q14494-1 ]
uc002ina.4. human. [Q14494-2 ]

Organism-specific databases

CTDi 4779.
GeneCardsi GC17P046125.
HGNCi HGNC:7781. NFE2L1.
HPAi HPA055876.
MIMi 163260. gene.
neXtProti NX_Q14494.
PharmGKBi PA31587.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG309753.
HOGENOMi HOG000234410.
HOVERGENi HBG052609.
InParanoidi Q14494.
KOi K09040.
OMAi HKHSGPS.
OrthoDBi EOG715Q3N.
PhylomeDBi Q14494.
TreeFami TF326681.

Enzyme and pathway databases

SignaLinki Q14494.

Miscellaneous databases

ChiTaRSi NFE2L1. human.
GeneWikii NFE2L1.
GenomeRNAii 4779.
NextBioi 18428.
PROi Q14494.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14494.
Bgeei Q14494.
CleanExi HS_NFE2L1.
HS_NRF1.
Genevestigatori Q14494.

Family and domain databases

Gene3Di 1.10.880.10. 1 hit.
InterProi IPR004827. bZIP.
IPR004826. bZIP_Maf.
IPR008917. TF_DNA-bd.
[Graphical view ]
Pfami PF03131. bZIP_Maf. 1 hit.
[Graphical view ]
SMARTi SM00338. BRLZ. 1 hit.
[Graphical view ]
SUPFAMi SSF47454. SSF47454. 1 hit.
PROSITEi PS50217. BZIP. 1 hit.
PS00036. BZIP_BASIC. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 135 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

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