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

NBPF11 Gene

protein-coding   GIFtS: 39
GCID: GC01M146040

neuroblastoma breakpoint family, member 11

 Explore 1 disease affiliated with
NBPF11 via our new
 Human Malady Compendium 
Biological research products
for NBPF11
    

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

Aliases
Neuroblastoma Breakpoint Family, Member 111 2
Neuroblastoma Breakpoint Family Member 112

External Ids:    HGNC: 319931   Entrez Gene: 2000302   Ensembl: ENSG000001520427   OMIM: 6140015   UniProtKB: Q86T753   

Export aliases for NBPF11 gene to outside databases

Previous GC identifers: GC01M143503 GC01M144744 GC01M147574


(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_000001.10  NC_018912.1  NT_167185.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NBPF11 gene promoter:
         AhR   p53   AML1a   HTF   RelA   NF-kappaB   C/EBPalpha   AREB6   CHOP-10   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNBPF11 promoter sequence
   Search SABiosciences Chromatin IP Primers for NBPF11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NBPF11


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

Entrez Gene cytogenetic band: 1q21.1   Ensembl cytogenetic band:  1q21.1   HGNC cytogenetic band: 1q21.1

NBPF11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBPF11 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M146040:  view genomic region     (about GC identifiers)

Start:
146,032,542 bp from pter      End:
146,082,765 bp from pter
Size:
50,224 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: NBPFB_HUMAN, Q86T75 (See protein sequence)
Recommended Name: Neuroblastoma breakpoint family member 11  
Size: 865 amino acids; 99433 Da
Subcellular location: Cytoplasm (Probable)
Miscellaneous: Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the
chromosome 1
Sequence caution: Sequence=CAD89962.1; Type=Frameshift; Positions=498; Sequence=CAI17086.2; Type=Erroneous gene model
prediction; Sequence=CAI21822.2; Type=Erroneous gene model prediction;
Secondary accessions: B1AKG1 B7Z7R4
Alternative splicing: 2 isoforms:  Q86T75-1   Q86T75-2   

Explore the universe of human proteins at neXtProt for NBPF11: NX_Q86T75

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86T75

  • NBPF11 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_899228.4  
    ENSEMBL proteins: 
     ENSP00000418802   ENSP00000383795   ENSP00000345181   ENSP00000358329   ENSP00000383794  

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    Uscn Proteins for NBPF11

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----


    NBPF11 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

    NBPF11 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR010630 NBPF_dom

    Graphical View of Domain Structure for InterPro Entry Q86T75

    ProtoNet protein and cluster: Q86T75

    UniProtKB/Swiss-Prot: NBPFB_HUMAN, Q86T75
    Similarity: Belongs to the NBPF family
    Similarity: Contains 6 NBPF domains


    (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 NBPF11

    (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 NBPF11
    Search CenterWatch for drugs/clinical trials and news about NBPF11 / NBPFB 

    (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 NBPF11 gene: 
    NM_183372.4  

    Unigene Cluster for NBPF11:

    Neuroblastoma breakpoint family, member 11
    Hs.744018  [show with all ESTs]
    Unigene Representative Sequence: NM_183372
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479926 ENST00000401010 ENST00000339388(uc001eox.3 uc010ozg.2 uc009wjc.3 uc001eoy.3 uc001eoz.3 uc010ozh.2 uc001epa.3)
    ENST00000369323 ENST00000401009

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    Additional cDNA sequence: BX648497.1 

    24/42 DOTS entries (see all 42):

    DT.95301339  DT.100058829  DT.97861525  DT.91787194  DT.91983631  DT.92411509  DT.95239666  DT.121460365 
    DT.121460586  DT.87078282  DT.95247186  DT.100646648  DT.100650944  DT.121406339  DT.99963054  DT.87017630 
    DT.121406403  DT.433627  DT.100713385  DT.121406382  DT.100826929  DT.121406315  DT.121406317  DT.121406326 

    24/36 AceView cDNA sequences (see all 36):

    BX955185 BX280681 BG391131 BF897012 AW749186 AW160820 BM835771 BX496243 
    AY032616 BG480547 BX456385 AL041003 BE818276 BG059741 BE731777 BG990103 
    AW903264 BI039676 CK001817 BU658923 BU521010 AW934860 BI192970 CB143514 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NBPF11    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5
    SP1:                                                
    SP2:                                -     -         
    SP3:              -                                 


    ECgene alternative splicing isoforms for NBPF11

    (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

    NBPF11 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 NBPF11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NBPF11

    SOURCE GeneReport for Unigene cluster: Hs.744018

    UniProtKB/Swiss-Prot: NBPFB_HUMAN, Q86T75
    Tissue specificity: Expressed in spinal cord

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBPF11

    (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
      --

    ENSEMBL Gene Tree for NBPF11 (if available)
    TreeFam Gene Tree for NBPF11 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NBPF11 gene
    NBPF241 2  NBPF1  NBPF91 2  NBPF121 2  NBPF141 2  NBPF161 2  NBPF151 2  NBPF101 2  
    NBPF32  NBPF62  NBPF202  NBPF82  ENSG000002326372  NBPF42  
    18 SIMAP similar genes for NBPF11 using alignment to 5 protein entries:     NBPFB_HUMAN (see all proteins):
    NBPF21    NBPF24    NBPF12    NBPF20    LOC101059961    NBPF1
    NBPF15    NBPF16    NBPF8    NBPF14    NBPF10    AL592307.2
    NBPF9    NBPF7    NBPF5    NBPF3    NBPF6    NBPF4

    NBPF11 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for NBPF11
    PGOHUM00000259453 PGOHUM00000259822 PGOHUM00000263266


    (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

    10/59 NCBI SNPs in NBPF11 are shown (see all 59    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1899929661,2
    --146038943(+) CCTAAA/CCAGAA 1 -- int10--------
    rs1817427141,2
    --146038961(+) TGGATA/CCTTAT 1 -- int10--------
    rs2008296211,2
    --146039341(+) GGATG-/AAAGAG 1 -- int10--------
    rs2013909221,2
    F--146039841(+) CCCACC/TGATGT 2 Q R mis11Minor allele frequency- T:0.00EU 1163
    rs66618541,2
    C,A--146053414(+) GAAAAC/GTCTCA 1 -- int10--------
    rs75170771,2
    A--146053465(+) AAATAC/TTGAAA 1 -- int10--------
    rs125622211,2
    A,H--146053493(+) TATCAC/TTGGAG 1 -- int10--------
    rs75217811,2
    C,A--146053612(+) CATTCA/TTTCTC 1 -- int10--------
    rs1997503041,2
    F--146055327(+) CTCCCC/ACTACG 1 -- int11Minor allele frequency- A:0.01EU 515
    rs2000028781,2
    C,F--146055349(+) CCTGAG/ACTCCT 2 /L /F mis11Minor allele frequency- A:0.09EU 509

    HapMap Linkage Disequilibrium report for NBPF11 (146032542 - 146082765 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 18 variations for NBPF11
         15/17 CNVs (see all 17): 31655 84533 74687 69953 74686 84534 69925 30421 3312 5520 84535 84524 74688 69924 69952
         1 Inversion: 29494

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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

    NBPF11 for disorders           About GeneDecksing

    OMIM gene information: 614001    OMIM disorders: --

    1 disease for NBPF11:    About MalaCards
    neuroblastoma


    Export disorders for NBPF11 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 NBPF11 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NBPF11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. (PubMed id 16079250)1, 2, 3 Vandepoele K.... van Roy F. (2005)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Chibby interacts with NBPF1 and clusterin, two candid ate tumor suppressors linked to neuroblastoma. (PubMed id 20096688)1 Vandepoele K....van Roy F. (2010)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    6. 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)
    7. 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)
    8. Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in a neuroblastoma patient. Establishment of somatic cell hybrids and identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on chromosome 17 as breakpoint flanking single copy markers. (PubMed id 7700633)1 Laureys G.... Van Roy N. (1995)

    (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: 200030 HGNC: 31993 AceView: LOC400818 Ensembl:ENSG00000152042 euGenes: HUgn200030
    ECgene: NBPF11 H-InvDB: NBPF11

    (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 NBPF11 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 NBPF11 gene:
    Search GeneIP for patents involving NBPF11

    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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