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Q14494

- NF2L1_HUMAN

UniProt

Q14494 - NF2L1_HUMAN

Protein

Nuclear factor erythroid 2-related factor 1

Gene

NFE2L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    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

    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

    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 1 Publication; Single-pass type II membrane protein 1 Publication. Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

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

    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 1PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

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

    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.
    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. 2 PublicationsVSP_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...
    MobiDBi 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

    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: October 1, 2014
    This is version 136 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