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NBPF9 Gene

protein-coding   GIFtS: 32
GCID: GC01P144614

Neuroblastoma Breakpoint Family, Member 9

  See NBPF9-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Neuroblastoma Breakpoint Family, Member 91 2
AE012

External Ids:    HGNC: 319911   Entrez Gene: 4008182   Ensembl: ENSG000001686147   OMIM: 6139995   UniProtKB: Q3BBW03   

Export aliases for NBPF9 gene to outside databases

Previous GC identifers: GC01P142302 GC01M016762 GC01P7I0164 GC01P144002 GC01M146619


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NBPF9 Gene:
This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently
duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has
experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates
in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains.
Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have
been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly,
autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and
urinary tract anomalies. Altered expression of some gene family members is associated with several types of
cancer. This gene family contains numerous pseudogenes. (provided by RefSeq, Apr 2013)

GeneCards Summary for NBPF9 Gene:
NBPF9 (neuroblastoma breakpoint family, member 9) is a protein-coding gene. Diseases associated with NBPF9 include congenital heart disease, and neuroblastoma. An important paralog of this gene is NBPF6.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for NBPF9
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NBPF9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NBPF9


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

NBPF9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBPF9 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P144614:  view genomic region     (about GC identifiers)

Start:
144,614,959 bp from pter      End:
144,621,685 bp from pter
Size:
6,727 bases      Orientation:
plus strand

1 alternative location:
Chr1+ 144,811,744-144,830,413     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NBPF9_HUMAN, Q3BBW0 (See protein sequence)
Recommended Name: Neuroblastoma breakpoint family member 9  
Size: 867 amino acids; 99594 Da
Miscellaneous: Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the
chromosome 1

Explore the universe of human proteins at neXtProt for NBPF9: NX_Q3BBW0

Explore proteomics data for NBPF9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NBPF9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001032764.2  NP_001264373.1  

    ENSEMBL proteins: 
     ENSP00000364702   ENSP00000342975   ENSP00000390934   ENSP00000281815  

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    antibodies-online kits for NBPF9 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NBPF: neuroblastoma breakpoint family

    1 InterPro protein domain:
     IPR010630 NBPF_dom

    Graphical View of Domain Structure for InterPro Entry Q3BBW0

    ProtoNet protein and cluster: Q3BBW0

    UniProtKB/Swiss-Prot: NBPF9_HUMAN, Q3BBW0
    Similarity: Belongs to the NBPF family
    Similarity: Contains 6 NBPF domains


    Find genes that share domains with NBPF9           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NBPF9

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NBPF9_HUMAN, Q3BBW0: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NBPF9
    Interactions:

        Search GeneGlobe Interaction Network for NBPF9

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NBPF9



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NBPF9 gene (2 alternative transcripts): 
    NM_001037675.3  NM_001277444.1  

    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483630 ENST00000468645 ENST00000496755(uc001eli.3) ENST00000491652
    ENST00000375552(uc021ouf.1 uc010oxo.1 uc009wig.1) ENST00000465793
    ENST00000471873 ENST00000484811 ENST00000472811 ENST00000488888 ENST00000473761(uc010oyd.1)
    ENST00000338347 ENST00000440491 ENST00000281815
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      QuantiFast Probe-based Assays in human, mouse, rat NBPF9

    Selected AceView cDNA sequences (see all 36):

    BX955185 BF897012 AW749186 BG391131 BX496243 AY032616 BG480547 BM835771 
    BX280681 AW160820 CK001817 BX456385 BU521010 BG059741 BE818276 BE731777 
    BG990103 AW903264 BI039676 BU658923 AL041003 CB143514 BF514164 AW749188 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NBPF9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NBPF9 Expression
    About this image

    NBPF9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NBPF9 Protein Expression

    UniProtKB/Swiss-Prot: NBPF9_HUMAN, Q3BBW0
    Tissue specificity: Expressed in a neuroblastoma cell line

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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)
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    This gene was present in the common ancestor of mammals.

    Orthologs for NBPF9 gene from Selected species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia --
    Uncharacterized protein
    36(a)
    1 → many
    17(57512543-57515264)


    ENSEMBL Gene Tree for NBPF9 (if available)
    TreeFam Gene Tree for NBPF9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NBPF9 gene
    NBPF151 2  NBPF81 2  NBPF111 2  NBPF26  NBPF141 2  NBPF101 2  NBPF19  NBPF11 2  
    LOC102724250  NBPF121 2  NBPF201 2  NBPF62  NBPF32  ENSG000002038362  NBPF42  ENSG000002038272  
    17 SIMAP similar genes for NBPF9 using alignment to 7 protein entries:     NBPF9_HUMAN (see all proteins):
    NBPF21    NBPF20    NBPF1    NBPF10    NBPF14    NBPF11
    NBPF24    NBPF8    AL592307.2    NBPF12    NBPF16    NBPF15
    NBPF3    NBPF7    NBPF5P    NBPF6    NBPF4

    Find genes that share paralogs with NBPF9           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NBPF9 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2717206CNV Deletion23290073
    dgv66e199CNV Deletion23128226
    nsv436765CNV Insertion17901297
    nsv436028CNV Insertion17901297
    esv999428CNV Loss20482838
    nsv831303CNV Loss17160897
    nsv831315CNV Loss17160897
    nsv428212CNV Gain18775914
    nsv872203CNV Gain21882294
    esv23161CNV Gain19812545

    Human Gene Mutation Database (HGMD): NBPF9
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NBPF9
    DNA2.0 Custom Variant and Variant Library Synthesis for NBPF9

    (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.)
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    OMIM gene information: 613999    OMIM disorders: --

    3 diseases for NBPF9:    
    About MalaCards
    congenital heart disease    neuroblastoma    schizophrenia


    Find genes that share disorders with NBPF9           About GenesLikeMe


    Export disorders for NBPF9 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)
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    PubMed articles for NBPF9 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with NBPF9)
        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. (Mol. Biol. Evol. 2005)
    2. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    3. Evolutionary history and genome organization of DUF1220 protein domains. (PubMed id 22973535)1 O'Bleness M.S....Sikela J.M. (G3 (Bethesda) 2012)
    4. Lineage-specific gene duplication and loss in human and great ape evolution. (PubMed id 15252450)1 Fortna A....Sikela J.M. (PLoS Biol. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 400818 HGNC: 31991 AceView: LOC400818 Ensembl:ENSG00000168614 euGenes: HUgn400818
    ECgene: NBPF9 H-InvDB: NBPF9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NBPF9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NBPF9 gene:
    Search GeneIP for patents involving NBPF9

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NBPF9
     Browse compounds at ApexBio
     Search Addgene for plasmids for NBPF9
      Search eBioscience for proteins for NBPF9
      Search eBioscience for elisas for NBPF9
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for NBPF9
     antibodies-online antibodies for NBPF9
     antibodies-online kits for NBPF9 (2 products)
      Search antibodies-online for peptides for NBPF9
      Search antibodies-online for proteins for NBPF9
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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