Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q14494 (NF2L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:NFE2L1
Synonyms:HBZ17, NRF1, TCF11
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length772 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Activates erythroid-specific, globin gene expression.

Subunit structure

Interacts with KEAP1. Ref.6

Subcellular location

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Nucleus Ref.6.

Sequence similarities

Belongs to the bZIP family. CNC subfamily.

Contains 1 bZIP (basic-leucine zipper) domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentEndoplasmic reticulum
Membrane
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   LigandDNA-binding
   Molecular functionActivator
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure morphogenesis

Traceable author statement PubMed 9501099. Source: ProtInc

erythrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

heme biosynthetic process

Traceable author statement PubMed 9501099. Source: ProtInc

inflammatory response

Traceable author statement PubMed 9826775. Source: ProtInc

transcription from RNA polymerase II promoter

Traceable author statement PubMed 9826775. Source: ProtInc

   Cellular_componentendoplasmic reticulum membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionRNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Traceable author statement Ref.1. Source: ProtInc

transcription cofactor activity

Traceable author statement PubMed 9826775. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q14494-1)

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.
Isoform 2 (identifier: Q14494-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 772772Nuclear factor erythroid 2-related factor 1
PRO_0000076447

Regions

Transmembrane7 – 2418Helical; Signal-anchor for type II membrane protein; Potential
Domain654 – 71764bZIP
Region656 – 67520Basic motif By similarity
Region682 – 69615Leucine-zipper By similarity
Compositional bias125 – 288164Asp/Glu-rich (acidic)
Compositional bias496 – 51722Poly-Ser

Natural variations

Alternative sequence242 – 27130Missing in isoform 2.
VSP_000579
Natural variant631D → H.
Corresponds to variant rs2229367 [ dbSNP | Ensembl ].
VAR_048440

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: C868807C6046BEF5

FASTA77284,704
        10         20         30         40         50         60 
MLSLKKYLTE GLLQFTILLS LIGVRVDVDT YLTSQLPPLR EIILGPSSAY TQTQFHNLRN 

        70         80         90        100        110        120 
TLDGYGIHPK SIDLDNYFTA RRLLSQVRAL DRFQVPTTEV NAWLVHRDPE GSVSGSQPNS 

       130        140        150        160        170        180 
GLALESSSGL QDVTGPDNGV RESETEQGFG EDLEDLGAVA PPVSGDLTKE DIDLIDILWR 

       190        200        210        220        230        240 
QDIDLGAGRE VFDYSHRQKE QDVEKELRDG GEQDTWAGEG AEALARNLLV DGETGESFPA 

       250        260        270        280        290        300 
QVPSGEDQTA LSLEECLRLL EATCPFGENA EFPADISSIT EAVPSESEPP ALQNNLLSPL 

       310        320        330        340        350        360 
LTGTESPFDL EQQWQDLMSI MEMQAMEVNT SASEILYSAP PGDPLSTNYS LAPNTPINQN 

       370        380        390        400        410        420 
VSLHQASLGG CSQDFLLFSP EVESLPVASS STLLPLAPSN STSLNSTFGS TNLTGLFFPP 

       430        440        450        460        470        480 
QLNGTANDTA GPELPDPLGG LLDEAMLDEI SLMDLAIEEG FNPVQASQLE EEFDSDSGLS 

       490        500        510        520        530        540 
LDSSHSPSSL SSSEGSSSSS SSSSSSSSSA SSSASSSFSE EGAVGYSSDS ETLDLEEAEG 

       550        560        570        580        590        600 
AVGYQPEYSK FCRMSYQDPA QLSCLPYLEH VGHNHTYNMA PSALDSADLP PPSALKKGSK 

       610        620        630        640        650        660 
EKQADFLDKQ MSRDEHRARA MKIPFTNDKI INLPVEEFNE LLSKYQLSEA QLSLIRDIRR 

       670        680        690        700        710        720 
RGKNKMAAQN CRKRKLDTIL NLERDVEDLQ RDKARLLREK VEFLRSLRQM KQKVQSLYQE 

       730        740        750        760        770 
VFGRLRDENG RPYSPSQYAL QYAGDGSVLL IPRTMADQQA RRQERKPKDR RK 

« Hide

Isoform 2 [UniParc].

Checksum: B99AAEF1C5F598E6
Show »

FASTA74281,499

References

« Hide 'large scale' references
[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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11524.1. [Q14494-1]
PIRA49672.
A55004.
RefSeqNP_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]
UniGeneHs.514284.

3D structure databases

ProteinModelPortalQ14494.
SMRQ14494. Positions 612-714.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110851. 16 interactions.
IntActQ14494. 8 interactions.
STRING9606.ENSP00000355190.

PTM databases

PhosphoSiteQ14494.

Polymorphism databases

DMDM3183180.

Proteomic databases

MaxQBQ14494.
PaxDbQ14494.
PRIDEQ14494.

Protocols and materials databases

DNASU4779.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000357480; ENSP00000350072; ENSG00000082641. [Q14494-2]
ENST00000362042; ENSP00000354855; ENSG00000082641. [Q14494-1]
ENST00000585291; ENSP00000461960; ENSG00000082641. [Q14494-2]
GeneID4779.
KEGGhsa:4779.
UCSCuc002imz.4. human. [Q14494-1]
uc002ina.4. human. [Q14494-2]

Organism-specific databases

CTD4779.
GeneCardsGC17P046125.
HGNCHGNC:7781. NFE2L1.
HPAHPA055876.
MIM163260. gene.
neXtProtNX_Q14494.
PharmGKBPA31587.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG309753.
HOGENOMHOG000234410.
HOVERGENHBG052609.
InParanoidQ14494.
KOK09040.
OMAHKHSGPS.
OrthoDBEOG715Q3N.
PhylomeDBQ14494.
TreeFamTF326681.

Enzyme and pathway databases

SignaLinkQ14494.

Gene expression databases

ArrayExpressQ14494.
BgeeQ14494.
CleanExHS_NFE2L1.
HS_NRF1.
GenevestigatorQ14494.

Family and domain databases

Gene3D1.10.880.10. 1 hit.
InterProIPR004827. bZIP.
IPR004826. bZIP_Maf.
IPR008917. TF_DNA-bd.
[Graphical view]
PfamPF03131. bZIP_Maf. 1 hit.
[Graphical view]
SMARTSM00338. BRLZ. 1 hit.
[Graphical view]
SUPFAMSSF47454. SSF47454. 1 hit.
PROSITEPS50217. BZIP. 1 hit.
PS00036. BZIP_BASIC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNFE2L1. human.
GeneWikiNFE2L1.
GenomeRNAi4779.
NextBio18428.
PROQ14494.
SOURCESearch...

Entry information

Entry nameNF2L1_HUMAN
AccessionPrimary (citable) accession number: Q14494
Secondary accession number(s): D3DTU3 expand/collapse secondary AC list , D3DTU5, Q12877, Q96FN6
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM