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

N4BP2L1 Gene

protein-coding   GIFtS: 39
GCID: GC13M032974

NEDD4 binding protein 2-like 1

  Search for N4BP2L1
in our new
 Human Malady Compendium 
Biological research products
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(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 2-Like 11 2
CG0181 2
Hypothetical Gene CG0182
NEDD4-Binding Protein 2-Like 12
CG0813

External Ids:    HGNC: 250371   Entrez Gene: 906342   Ensembl: ENSG000001395977   UniProtKB: Q5TBK13   

Export aliases for N4BP2L1 gene to outside databases

Previous GC identifers: GC13M031872 GC13M013786


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

  --

(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 N4BP2L1 gene promoter:
         NF-1   Lmo2   AREB6   CREB   MEF-2A   deltaCREB   ARP-1   FOXO1a   aMEF-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidN4BP2L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for N4BP2L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat N4BP2L1


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

Entrez Gene cytogenetic band: 13q13.1   Ensembl cytogenetic band:  13q13.1   HGNC cytogenetic band: 13q13.1

N4BP2L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
N4BP2L1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M032974:  view genomic region     (about GC identifiers)

Start:
32,974,860 bp from pter      End:
33,007,091 bp from pter
Size:
32,232 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: N42L1_HUMAN, Q5TBK1 (See protein sequence)
Recommended Name: NEDD4-binding protein 2-like 1  
Size: 243 amino acids; 28981 Da
Secondary accessions: A4QN21 Q5TBK0
Alternative splicing: 2 isoforms:  Q5TBK1-1   Q5TBK1-2   

Explore the universe of human proteins at neXtProt for N4BP2L1: NX_Q5TBK1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5TBK1

  • N4BP2L1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001073159.1  NP_438169.2  

    ENSEMBL proteins: 
     ENSP00000369484   ENSP00000369476   ENSP00000345838   ENSP00000369473   ENSP00000435515  

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

    N4BP2L1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026567 NEDD4-bind_pro_2_like_1

    Graphical View of Domain Structure for InterPro Entry Q5TBK1

    ProtoNet protein and cluster: Q5TBK1


    (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

    miRNA
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    (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 N4BP2L1

    (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
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    Browse Tocris compounds for N4BP2L1
    Search CenterWatch for drugs/clinical trials and news about N4BP2L1 / N42L1 

    (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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    About This Section

    REFSEQ mRNAs for N4BP2L1 gene (2 alternative transcripts): 
    NM_001079691.1  NM_052818.2  

    Unigene Cluster for N4BP2L1:

    NEDD4 binding protein 2-like 1
    Hs.732118  [show with all ESTs]
    Unigene Representative Sequence: AL832677
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000459716 ENST00000380139 ENST00000380133 ENST00000495479 ENST00000343281
    ENST00000472298(uc001uuf.3) ENST00000464470 ENST00000461502 ENST00000380130(uc001uuc.3 uc001uud.3)
    ENST00000530622

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    SwitchGear 3'UTR luciferase reporter plasmidN4BP2L1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AF113009.1 AL049785.1 AL049786.1 AL049787.1 AL049788.1 AL832677.1 BC011650.2 BC022188.2 
    BC068049.1 BC125050.1 BX648509.1 U50527.1 U50528.1 U57962.1 

    21 DOTS entries:

    DT.95123406  DT.114407  DT.92017106  DT.97796380  DT.121643809  DT.114408  DT.100742701  DT.99985284 
    DT.95123394  DT.70102467  DT.121643808  DT.92425277  DT.412749  DT.86852729  DT.120793869  DT.120793895 
    DT.40109676  DT.95085043  DT.97770634  DT.120793922  DT.40256654 

    24/449 AceView cDNA sequences (see all 449):

    AA789152 AI572862 AA278464 BM714657 AA344470 BX502830 BM479613 NM_014887 
    AA487590 BG287084 AA662487 BQ012091 BP375498 AI581114 AI963956 BX483989 
    BM456347 BM055268 AI684351 BG742936 AA634635 BP379646 BM543104 AI869207 

    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

    N4BP2L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATAGACAAGA

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

    About this image

    N4BP2L1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mature follicles (In-vitro growth and ...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See N4BP2L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for N4BP2L1

    SOURCE GeneReport for Unigene cluster: Hs.732118
        SABiosciences Custom PCR Arrays for N4BP2L1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for N4BP2L1

    (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 N4BP2L1 gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves N4BP2L11 NEDD4 binding protein 2-like 1 74.22(n)
    71.82(a)
      418914  XM_417110.3  XP_417110.1 
    lizard
    (Anolis carolinensis)
    Reptilia N4BP2L16
    --
    63(a)
    1 → many
    3(183702383-183718954)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG71396
    --
    7(a)
    1 → many
    3L(22060344-22064948)


    ENSEMBL Gene Tree for N4BP2L1 (if available)
    TreeFam Gene Tree for N4BP2L1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for N4BP2L1 gene
    N4BP22  
    2 SIMAP similar genes for N4BP2L1 using alignment to 4 protein entries:     N42L1_HUMAN (see all proteins):
    N4BP2    N4BP2L2

    N4BP2L1 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

    10/482 NCBI SNPs in N4BP2L1 are shown (see all 482    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2063461,2
    H,--32974370(+) AAATAC/TGTTTA 2 -- ds50016Minor allele frequency- T:0.00NS EA NA 418
    rs1896965831,2
    --32974725(+) AATGCA/GCACAC 2 -- ds50010--------
    rs1826720841,2
    --32974764(+) GCTACA/TTGAAA 2 -- ds50010--------
    rs1511512491,2
    --32974789(+) TGAGTA/GTATGT 2 -- ds50010--------
    rs734584301,2
    C,--32974880(+) GTGTTA/GTTTAT 2 -- ut312Minor allele frequency- G:0.01WA 120
    rs38032821,2
    C,F,H,--32974904(+) AATGAG/AACCCT 2 -- ut315Minor allele frequency- A:0.01NS EA 540
    rs1402273591,2
    --32974991(+) CAAAGA/TGTTAC 2 -- ut310--------
    rs1141312931,2
    F,--32975007(+) TCAGAA/TGCCAT 2 -- ut311Minor allele frequency- T:0.03WA 118
    rs731730101,2
    C,--32975041(+) CTACAG/AGNNNN 2 -- ut312Minor allele frequency- A:0.13NA 122
    rs1441725951,2
    --32975382(+) TGGTTA/CTGCCA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for N4BP2L1 (32974860 - 33007091 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for N4BP2L1: --

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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

    N4BP2L1 for disorders           About MalaCards

    N4BP2L1 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: N4BP2L1 (2 documents)

    Export disorders for N4BP2L1 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 N4BP2L1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with N4BP2L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13. (PubMed id 8812419)1, 3 Couch F.J.... Simard J. (1996)
    2. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1 Guey L.T....Malats N. (2010)
    3. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1 Hosgood H.D....Lan Q. (2009)
    4. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 90634 HGNC: 25037 AceView: PFAAP5 Ensembl:ENSG00000139597 euGenes: HUgn90634
    ECgene: N4BP2L1 H-InvDB: N4BP2L1

    (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 N4BP2L1 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 N4BP2L1 gene:
    Search GeneIP for patents involving N4BP2L1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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