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

N4BP1 Gene

protein-coding   GIFtS: 49
GCID: GC16M048572

NEDD4 binding protein 1

 Explore 3 diseases affiliated with
N4BP1 via our new
 Human Malady Compendium 
Biological research products
for N4BP1
    

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

Aliases
NEDD4 Binding Protein 11 2
NEDD4-Binding Protein 12
KIAA06153

External Ids:    HGNC: 298501   Entrez Gene: 96832   Ensembl: ENSG000001029217   UniProtKB: O751133   

Export aliases for N4BP1 gene to outside databases

Previous GC identifers: GC16M038991 GC16M048624 GC16M048311 GC16M048354 GC16M047131 GC16M034461


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

UniProtKB/Swiss-Prot: N4BP1_HUMAN, O75113
Function: Inhibitor of the E3 ubiquitin-protein ligase ITCH. Acts by interacting with the second WW domain of ITCH,
leading to compete with ITCH's substrates and impairing ubiquitination of substrates (By similarity)




(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_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the N4BP1 gene promoter:
         HSF1 (long)   RelA   POU6F1 (c2)   NF-kappaB   YY1   Max   c-Rel   Cart-1   HSF1short   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidN4BP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for N4BP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat N4BP1


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

Entrez Gene cytogenetic band: 16q12.1   Ensembl cytogenetic band:  16q12.1   HGNC cytogenetic band: 16q12.1

N4BP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
N4BP1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M048572:  view genomic region     (about GC identifiers)

Start:
48,572,637 bp from pter      End:
48,654,059 bp from pter
Size:
81,423 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: N4BP1_HUMAN, O75113 (See protein sequence)
Recommended Name: NEDD4-binding protein 1  
Size: 896 amino acids; 100379 Da
Subunit: Interacts with NEDD4. Interacts with ITCH (via WW domain 2) (By similarity)
Subcellular location: Nucleus, nucleolus (By similarity). Nucleus, PML body (By similarity). Note=Primarily localizes
to the nucleolus. Also localizes to the PML nuclear bodies, when desumoylated (By similarity)
Sequence caution: Sequence=BAA31590.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A7MD49 Q2YDX1

Explore the universe of human proteins at neXtProt for N4BP1: NX_O75113

Post-translational modifications:

  • Monoubiquitinated by NEDD4. Polyubiquitinated, leading to its degradation by the proteasome. Sumoylated with SUMO1,
  • abrogating polyubiquitination and subsequent degradation. Desumoylated by SENP1, leading to accumulation in PML
    nuclear bodies (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75113

  • N4BP1 Protein expression data from MOPED and PaxDb:    About this image 
    N4BP1 Protein Expression
    REFSEQ proteins: NP_694574.3  
    ENSEMBL proteins: 
     ENSP00000262384   ENSP00000460667  

    Human Recombinant Protein Products for N4BP1: 
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    Uscn Proteins for N4BP1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus ISS--
    GO:0016605PML body ISS--

    N4BP1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for N4BP1


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

    N4BP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR021869 RNase_Zc3h12

    Graphical View of Domain Structure for InterPro Entry O75113

    ProtoNet protein and cluster: O75113

    UniProtKB/Swiss-Prot: N4BP1_HUMAN, O75113
    Similarity: Belongs to the N4BP1 family


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: N4BP1_HUMAN, O75113
    Function: Inhibitor of the E3 ubiquitin-protein ligase ITCH. Acts by interacting with the second WW domain of ITCH,
    leading to compete with ITCH's substrates and impairing ubiquitination of substrates (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    N4BP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for N4BP1:
     Increased HPV18 LCR reporter a 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for N4bp1):
     no phenotypic analysis 

    N4BP1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out N4bp1tm1.1Mku for N4BP1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for N4BP1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidN4BP1 3' UTR sequence
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for N4BP1


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for N4BP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/8 Interacting proteins for N4BP1 (O751131, 2, 3 ENSP000002623844) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITCHQ96J023, ENSP000003639984I2D: score=2 STRING: ENSP00000363998
    UBCP0CG483, ENSP000003448184I2D: score=2 STRING: ENSP00000344818
    LSM1O151163, ENSP000003105964I2D: score=1 STRING: ENSP00000310596
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    AZI2Q9H6S13, ENSP000004193714I2D: score=1 STRING: ENSP00000419371
    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:0031397negative regulation of protein ubiquitination ISS--
    GO:0032435negative regulation of proteasomal ubiquitin-dependent protein catabolic process ISS--
    GO:0034644cellular response to UV IMP17592138

    N4BP1 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 N4BP1
    Search CenterWatch for drugs/clinical trials and news about N4BP1 

    (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,
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    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 N4BP1 gene: 
    NM_153029.3  

    Unigene Cluster for N4BP1:

    NEDD4 binding protein 1
    Hs.511839  [show with all ESTs]
    Unigene Representative Sequence: NM_153029
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262384(uc002efp.3) ENST00000565423 ENST00000569027 ENST00000564124
    ENST00000565638 ENST00000564710

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    hsa-miR-3607-3p hsa-miR-15a hsa-miR-128 hsa-miR-134 hsa-miR-3653 hsa-miR-519a hsa-miR-3921 hsa-miR-130b
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB014515.1 AK001464.1 AK026937.1 AK056383.1 AK094234.1 AK124782.1 AL831882.1 BC051897.1 
    BC108288.1 BC152472.1 

    8 DOTS entries:

    DT.213542  DT.75103885  DT.112202  DT.209678  DT.86854338  DT.95369347  DT.91713557  DT.40119828 

    24/179 AceView cDNA sequences (see all 179):

    AI017927 AA631580 BM968473 AI332705 AI080511 AA911171 BM673246 AA316977 
    F13173 BM830152 F13171 AI800356 BM707079 BF509350 AL046130 BF512689 
    BX477474 BQ000756 AB014515 BM677178 F13180 AK001464 AL831882 BM547703 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for N4BP1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
    SP1:        -                                                         
    SP2:                                                  -               
    SP3:                                                                  


    ECgene alternative splicing isoforms for N4BP1

    (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

    N4BP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGTTGTGAC
    N4BP1 Expression
    About this image
    See N4BP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for N4BP1

    SOURCE GeneReport for Unigene cluster: Hs.511839

    UniProtKB/Swiss-Prot: N4BP1_HUMAN, O75113
    Tissue specificity: Detected in heart, lung, brain, liver, skeletal muscle, pancreas, kidney, spleen, testis and ovary

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for N4BP1

    (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 N4BP1 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves N4BP11 NEDD4 binding protein 1 64.48(n)
    58.36(a)
      415739  NM_001030570.1  NP_001025741.1 
    lizard
    (Anolis carolinensis)
    Reptilia N4BP16
    --
    47(a)
    1 ↔ 1
    GL343469.1(620140-637372)
    African clawed frog
    (Xenopus laevis)
    Amphibia n4bp1-pending-prov2 Nedd4 binding protein 1 71.26(n)    BC045006.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi03b052 wufi03b05 75.32(n)   327327  BC059205.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG423606
    --
    16(a)
    1 → many
    2R(20494812-20498049)


    ENSEMBL Gene Tree for N4BP1 (if available)
    TreeFam Gene Tree for N4BP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for N4BP1 gene
    NYNRIN2  ZC3H12C2  ZC3H12B2  ZC3H12D2  KHNYN2  ZC3H12A2  

    N4BP1 for paralogs           About GeneDecksing



    (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

    10/1118 NCBI SNPs in N4BP1 are shown (see all 1118    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1392551391,2
    --48572194(+) GGGTGC/TGGTGA 1 -- ds50010--------
    rs1427587351,2
    --48572200(+) GGTGAC/TGTCCG 1 -- ds50010--------
    rs1915104261,2
    --48572310(+) GTGGAA/GAATGG 1 -- ds50010--------
    rs1820861151,2
    --48572346(+) CCCACA/GATTCC 1 -- ds50010--------
    rs1162712471,2
    F--48572352(+) ATTCCC/TACCAC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1462846081,2
    --48572428(+) GGAAGA/CCTGAG 1 -- ds50010--------
    rs1123386551,2
    C--48572577(+) TGGATT/CCCCGG 1 -- ds50012Minor allele frequency- C:0.10CSA WA 120
    rs1393920251,2
    --48572692(+) CTAGGC/TGCCGT 1 -- ut310--------
    rs1441105271,2
    --48572693(+) TAGGCA/GCCGTG 1 -- ut310--------
    rs1861716971,2
    --48572719(+) ACAGGC/TGGTCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for N4BP1 (48572637 - 48654059 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for N4BP1
         1 CNV: 7111

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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

    N4BP1 for disorders           About GeneDecksing

    3 diseases for N4BP1:    About MalaCards
    chronic lymphocytic leukemia    lymphocytic leukemia    leukemia

    Human Genome Epidemiology (HuGE) Navigator: N4BP1 (1 document)

    Export disorders for N4BP1 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 N4BP1 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with N4BP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (1998)
    2. Identification of developmentally expressed proteins that functionally interact with Nedd4 ubiquitin ligase. (PubMed id 11717310)1, 3 Murillas R.... Kuehn M.R. (2002)
    3. Genome-wide association analysis implicates the involv ement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PubMed id 22491018)1 Wang J....Platt A. (2012)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    6. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9683 HGNC: 29850 AceView: N4BP1 Ensembl:ENSG00000102921 euGenes: HUgn9683
    ECgene: N4BP1 H-InvDB: N4BP1

    (According to HUGE)
    About This Section
    HUGE: KIAA0615

    (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 N4BP1 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 N4BP1 gene:
    Search GeneIP for patents involving N4BP1

    GeneCards and IP:
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