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Q9UHK0

- NUFP1_HUMAN

UniProt

Q9UHK0 - NUFP1_HUMAN

Protein

Nuclear fragile X mental retardation-interacting protein 1

Gene

NUFIP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 2 (20 Mar 2007)
      Previous versions | rss
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    Functioni

    Binds RNA.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri174 – 19623C2H2-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. identical protein binding Source: BHF-UCL
    3. metal ion binding Source: UniProtKB-KW
    4. protein binding Source: UniProtKB
    5. protein binding, bridging Source: BHF-UCL
    6. RNA binding Source: HGNC

    GO - Biological processi

    1. box C/D snoRNP assembly Source: BHF-UCL
    2. positive regulation of transcription from RNA polymerase II promoter Source: HGNC
    3. RNA processing Source: ProtInc

    Keywords - Ligandi

    Metal-binding, RNA-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nuclear fragile X mental retardation-interacting protein 1
    Alternative name(s):
    Nuclear FMRP-interacting protein 1
    Gene namesi
    Name:NUFIP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:8057. NUFIP1.

    Subcellular locationi

    Nucleus 1 Publication
    Note: Distributed in the nucleus in a dot-like pattern.

    GO - Cellular componenti

    1. cytosolic ribosome Source: HGNC
    2. nuclear matrix Source: HGNC
    3. nucleolus Source: HGNC
    4. nucleus Source: HPA
    5. perichromatin fibrils Source: HGNC
    6. pre-snoRNP complex Source: BHF-UCL
    7. presynaptic active zone Source: HGNC
    8. transcription elongation factor complex Source: HGNC

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31843.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 495495Nuclear fragile X mental retardation-interacting protein 1PRO_0000245518Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei338 – 3381Phosphoserine4 Publications
    Modified residuei340 – 3401Phosphoserine4 Publications
    Modified residuei342 – 3421Phosphoserine4 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9UHK0.
    PaxDbiQ9UHK0.
    PRIDEiQ9UHK0.

    Expressioni

    Tissue specificityi

    Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocyte, heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas.1 Publication

    Gene expression databases

    BgeeiQ9UHK0.
    CleanExiHS_NUFIP1.
    GenevestigatoriQ9UHK0.

    Organism-specific databases

    HPAiHPA029958.
    HPA029959.
    HPA029960.

    Interactioni

    Subunit structurei

    Interacts with FMR1.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NHP2L1P557692EBI-2563549,EBI-712228
    ZNHIT6Q9NWK92EBI-2563549,EBI-2563515

    Protein-protein interaction databases

    BioGridi117807. 10 interactions.
    DIPiDIP-41010N.
    IntActiQ9UHK0. 8 interactions.
    MINTiMINT-110099.
    STRINGi9606.ENSP00000368459.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UHK0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi243 – 26018Bipartite nuclear localization signalAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi18 – 10992Pro-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 C2H2-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri174 – 19623C2H2-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG73405.
    HOGENOMiHOG000113888.
    HOVERGENiHBG059841.
    InParanoidiQ9UHK0.
    OMAiMAKIRSP.
    OrthoDBiEOG77T15S.
    PhylomeDBiQ9UHK0.
    TreeFamiTF329804.

    Family and domain databases

    InterProiIPR019496. NUFIP1_cons_dom.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR022755. Znf_C2H2_jaz.
    [Graphical view]
    PfamiPF10453. NUFIP1. 1 hit.
    PF12171. zf-C2H2_jaz. 1 hit.
    [Graphical view]
    SMARTiSM00355. ZnF_C2H2. 2 hits.
    [Graphical view]
    PROSITEiPS00028. ZINC_FINGER_C2H2_1. 1 hit.
    PS50157. ZINC_FINGER_C2H2_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9UHK0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAEPTSDFET PIGWHASPEL TPTLGPLSDT APPRDSWMFW AMLPPPPPPL    50
    TSSLPAAGSK PSSESQPPME AQSLPGAPPP FDAQILPGAQ PPFDAQSPLD 100
    SQPQPSGQPW NFHASTSWYW RQSSDRFPRH QKSFNPAVKN SYYPRKYDAK 150
    FTDFSLPPSR KQKKKKRKEP VFHFFCDTCD RGFKNQEKYD KHMSEHTKCP 200
    ELDCSFTAHE KIVQFHWRNM HAPGMKKIKL DTPEEIARWR EERRKNYPTL 250
    ANIERKKKLK LEKEKRGAVL TTTQYGKMKG MSRHSQMAKI RSPGKNHKWK 300
    NDNSRQRAVT GSGSHLCDLK LEGPPEANAD PLGVLINSDS ESDKEEKPQH 350
    SVIPKEVTPA LCSLMSSYGS LSGSESEPEE TPIKTEADVL AENQVLDSSA 400
    PKSPSQDVKA TVRNFSEAKS ENRKKSFEKT NPKRKKDYHN YQTLFEPRTH 450
    HPYLLEMLLA PDIRHERNVI LQCVRYIIKK DFFGLDTNSA KSKDV 495
    Length:495
    Mass (Da):56,300
    Last modified:March 20, 2007 - v2
    Checksum:i318418FB08071001
    GO

    Sequence cautioni

    The sequence AAH17745.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361S → R.1 Publication
    Corresponds to variant rs1140993 [ dbSNP | Ensembl ].
    VAR_026978

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF159548 mRNA. Translation: AAF15315.1.
    AL354816, AL359706 Genomic DNA. Translation: CAC40689.2.
    AL359706, AL354816 Genomic DNA. Translation: CAI12865.1.
    BC017745 mRNA. Translation: AAH17745.1. Different initiation.
    CCDSiCCDS9393.1.
    RefSeqiNP_036477.2. NM_012345.2.
    UniGeneiHs.525006.

    Genome annotation databases

    EnsembliENST00000379161; ENSP00000368459; ENSG00000083635.
    GeneIDi26747.
    KEGGihsa:26747.
    UCSCiuc001uzp.2. human.

    Polymorphism databases

    DMDMi134047852.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF159548 mRNA. Translation: AAF15315.1 .
    AL354816 , AL359706 Genomic DNA. Translation: CAC40689.2 .
    AL359706 , AL354816 Genomic DNA. Translation: CAI12865.1 .
    BC017745 mRNA. Translation: AAH17745.1 . Different initiation.
    CCDSi CCDS9393.1.
    RefSeqi NP_036477.2. NM_012345.2.
    UniGenei Hs.525006.

    3D structure databases

    ProteinModelPortali Q9UHK0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117807. 10 interactions.
    DIPi DIP-41010N.
    IntActi Q9UHK0. 8 interactions.
    MINTi MINT-110099.
    STRINGi 9606.ENSP00000368459.

    Polymorphism databases

    DMDMi 134047852.

    Proteomic databases

    MaxQBi Q9UHK0.
    PaxDbi Q9UHK0.
    PRIDEi Q9UHK0.

    Protocols and materials databases

    DNASUi 26747.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000379161 ; ENSP00000368459 ; ENSG00000083635 .
    GeneIDi 26747.
    KEGGi hsa:26747.
    UCSCi uc001uzp.2. human.

    Organism-specific databases

    CTDi 26747.
    GeneCardsi GC13M045513.
    H-InvDB HIX0011282.
    HGNCi HGNC:8057. NUFIP1.
    HPAi HPA029958.
    HPA029959.
    HPA029960.
    MIMi 604354. gene.
    neXtProti NX_Q9UHK0.
    PharmGKBi PA31843.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG73405.
    HOGENOMi HOG000113888.
    HOVERGENi HBG059841.
    InParanoidi Q9UHK0.
    OMAi MAKIRSP.
    OrthoDBi EOG77T15S.
    PhylomeDBi Q9UHK0.
    TreeFami TF329804.

    Miscellaneous databases

    GeneWikii NUFIP1.
    GenomeRNAii 26747.
    NextBioi 49103.
    PROi Q9UHK0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UHK0.
    CleanExi HS_NUFIP1.
    Genevestigatori Q9UHK0.

    Family and domain databases

    InterProi IPR019496. NUFIP1_cons_dom.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR022755. Znf_C2H2_jaz.
    [Graphical view ]
    Pfami PF10453. NUFIP1. 1 hit.
    PF12171. zf-C2H2_jaz. 1 hit.
    [Graphical view ]
    SMARTi SM00355. ZnF_C2H2. 2 hits.
    [Graphical view ]
    PROSITEi PS00028. ZINC_FINGER_C2H2_1. 1 hit.
    PS50157. ZINC_FINGER_C2H2_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein."
      Bardoni B., Schenck A., Mandel J.-L.
      Hum. Mol. Genet. 8:2557-2566(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-36, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH FMR1.
    2. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] OF 163-495.
      Tissue: Duodenum.
    4. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-338; SER-340 AND SER-342, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-338; SER-340 AND SER-342, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-338; SER-340 AND SER-342, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-338; SER-340 AND SER-342, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiNUFP1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHK0
    Secondary accession number(s): Q8WVM5, Q96SG1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2006
    Last sequence update: March 20, 2007
    Last modified: October 1, 2014
    This is version 110 of the entry and version 2 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 13
      Human chromosome 13: 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