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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NUFIP1 Gene

protein-coding   GIFtS: 45
GCID: GC13M045513

nuclear fragile X mental retardation protein interacting...

 Explore 4 diseases affiliated with
NUFIP1 via our new
 Human Malady Compendium 
Biological research products
for NUFIP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Nuclear Fragile X Mental Retardation Protein Interacting Protein 11 2
NUFIP1 2 5
Nuclear FMRP-Interacting Protein 12 3
BA540M5.11
Nuclear Fragile X Mental Retardation-Interacting Protein 12

External Ids:    HGNC: 80571   Entrez Gene: 267472   Ensembl: ENSG000000836357   OMIM: 6043545   UniProtKB: Q9UHK03   

Export aliases for NUFIP1 gene to outside databases

Previous GC identifers: GC13M043513 GC13M039499 GC13M044450 GC13M043311 GC13M044411 GC13M026315


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NUFIP1:
This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization
signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the
cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental
retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is
involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. (provided by RefSeq, Feb
2012)

UniProtKB/Swiss-Prot: NUFP1_HUMAN, Q9UHK0
Function: Binds RNA

Gene Wiki entry for NUFIP1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NUFIP1 gene promoter:
         AP-2rep   SRF   Max1   SRF (504 AA)   CUTL1   PPAR-gamma1   GATA-6   HSF2   PPAR-gamma2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNUFIP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NUFIP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NUFIP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q14   Ensembl cytogenetic band:  13q14.12   HGNC cytogenetic band: 13q14

NUFIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUFIP1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M045513:  view genomic region     (about GC identifiers)

Start:
45,513,384 bp from pter      End:
45,563,618 bp from pter
Size:
50,235 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NUFP1_HUMAN, Q9UHK0 (See protein sequence)
Recommended Name: Nuclear fragile X mental retardation-interacting protein 1  
Size: 495 amino acids; 56300 Da
Subunit: Interacts with FMR1
Subcellular location: Nucleus. Note=Distributed in the nucleus in a dot-like pattern
Sequence caution: Sequence=AAH17745.1; Type=Erroneous initiation;
Secondary accessions: Q8WVM5 Q96SG1

Explore the universe of human proteins at neXtProt for NUFIP1: NX_Q9UHK0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UHK0

  • NUFIP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036477.2  
    ENSEMBL proteins: 
     ENSP00000368459  

    Human Recombinant Protein Products: 
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    Uscn Proteins for NUFIP1

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005726perichromatin fibrils IDA12941608
    GO:0005730nucleolus IDA--
    GO:0008023transcription elongation factor complex IDA15107825
    GO:0016363nuclear matrix IDA12941608


    NUFIP1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NUFIP1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR019496 NUFIP1_cons_dom
     IPR015880 Znf_C2H2-like
     IPR007087 Znf_C2H2
     IPR022755 Znf_C2H2_jaz

    Graphical View of Domain Structure for InterPro Entry Q9UHK0

    ProtoNet protein and cluster: Q9UHK0

    UniProtKB/Swiss-Prot: NUFP1_HUMAN, Q9UHK0
    Similarity: Contains 1 C2H2-type zinc finger


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: NUFP1_HUMAN, Q9UHK0
    Function: Binds RNA

    miRNA
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS15107825
    GO:0003723RNA binding IDA10556305
    GO:0005515protein binding IPI17636026
    GO:0008270zinc ion binding IEA--
    GO:0030515contributes to snoRNA binding IDA17636026


    NUFIP1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NUFIP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/37 Interacting proteins for NUFIP1 (Q9UHK02, 3 ENSP000003684594) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-3319708 I2D: score=1 STRING: ENSP00000309503
    BRCA1P383983, ENSP000003502834I2D: score=3 STRING: ENSP00000350283
    CCNT1O605633, ENSP000002619004I2D: score=3 STRING: ENSP00000261900
    RUVBL2Q9Y2303, ENSP000002214134I2D: score=1 STRING: ENSP00000221413
    FMR1Q067873, ENSP000003595064I2D: score=2 STRING: ENSP00000359506
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000492box C/D snoRNP assembly IMP17636026
    GO:0006396RNA processing TAS10556305
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IMP15107825


    NUFIP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NUFIP1
    Search CenterWatch for drugs/clinical trials and news about NUFIP1 / NUFP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NUFIP1 gene: 
    NM_012345.2  

    Unigene Cluster for NUFIP1:

    Nuclear fragile X mental retardation protein interacting protein 1
    Hs.525006  [show with all ESTs]
    Unigene Representative Sequence: NM_012345
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000379161(uc001uzp.2)

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    hsa-miR-4254 hsa-miR-448 hsa-miR-548e hsa-miR-548v hsa-miR-545 hsa-miR-4275 hsa-miR-153 hsa-miR-548a-3p
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    Additional cDNA sequence: 

    AF159548.1 AK314242.1 BC001436.1 BC017745.1 

    4 DOTS entries:

    DT.311423  DT.95265455  DT.121310919  DT.99993491 

    24/78 AceView cDNA sequences (see all 78):

    AI168720 AA300673 AI445539 AA313568 BC017745 AI470636 BM722745 CA424844 
    AI220307 BG188808 CB306417 AA214642 BX374594 AW293648 AA377043 AA732677 
    AW297501 AI493868 BX283859 AI216506 AA300838 CD557235 BG576976 BI835649 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NUFIP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See NUFIP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NUFIP1

    SOURCE GeneReport for Unigene cluster: Hs.525006

    UniProtKB/Swiss-Prot: NUFP1_HUMAN, Q9UHK0
    Tissue specificity: Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood
    leukocyte, heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NUFIP1 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nufip11 , 5 nuclear fragile X mental retardation protein interacting more1, 5 79.99(n)1
    72.88(a)1
      14 (40.35 cM)5
    272751  NM_013745.51  NP_038773.11 
     761108915 
    chicken
    (Gallus gallus)
    Aves NUFIP11 nuclear fragile X mental retardation protein interacting more 58.9(n)
    51.23(a)
      418841  NM_001030825.1  NP_001025996.1 
    lizard
    (Anolis carolinensis)
    Reptilia NUFIP16
    --
    35(a)
    1 ↔ 1
    GL343395.1(592444-615633)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW645513.12   -- 78.78(n)    AW645513.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1714761 zgc:171476 51.33(n)
    45.71(a)
      334271  NM_001114886.1  NP_001108358.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nufip6
    Nufip
    18(a)
    1 ↔ 1
    3L(18739711-18741467)


    ENSEMBL Gene Tree for NUFIP1 (if available)
    TreeFam Gene Tree for NUFIP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NUFIP1 gene

    NUFIP1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NUFIP1
    PGOHUM00000243235


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/737 NCBI SNPs in NUFIP1 are shown (see all 737    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11753861,2
    C,F,H,--26314845(+) AGCACA/CCCAGA 1 -- ds50017Minor allele frequency- C:0.02NS NA WA 626
    rs2001956431,2
    C--26315164(+) AAAAAA/TAACAA 1 -- ds50010--------
    rs575859571,2
    C,--26315393(+) TGTAAT/AGCTTA 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs556998211,2
    C--26315443(+) GTAGAA/GGGCAG 1 -- ut310--------
    rs790489841,2
    C,--26315874(+) AAGCC-/TTATAA 2 -- ut310--------
    rs1927876521,2
    C,--26316149(+) AATATA/GGGGCT 1 -- ut310--------
    rs1145296601,2
    C,F,--26316760(+) TATTCC/TCCCTT 1 -- ut311Minor allele frequency- T:0.02WA 118
    rs2012618071,2
    C--26317117(+) AAAAAA/GGGTTT 1 -- ut310--------
    rs1125555901,2
    --26317524(+) TGAGAC/TGGAGT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1158350581,2
    C,F,--26317840(+) TATATT/CTGGAG 1 -- int11Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for NUFIP1 (45513384 - 45563618 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NUFIP1: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NUFIP1 for disorders           About GeneDecksing

    OMIM gene information: 604354    OMIM disorders: --

    4 diseases for NUFIP1:    About MalaCards
    intellectual disability    neuronitis    microcephaly    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: NUFIP1 (1 document)

    Export disorders for NUFIP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NUFIP1 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with NUFIP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein. (PubMed id 10556305)1, 2, 3 Bardoni B.... Mandel J.-L. (1999)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    3. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12. (PubMed id 10894927)1, 3 Bardoni B....Mandel J.L. (2000)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    8. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1 Joslyn G....White R.L. (2010)
    9. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26747 HGNC: 8057 AceView: NUFIP1 Ensembl:ENSG00000083635 euGenes: HUgn26747
    ECgene: NUFIP1 H-InvDB: NUFIP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NUFIP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NUFIP1 gene:
    Search GeneIP for patents involving NUFIP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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