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

NBPF3 Gene

protein-coding   GIFtS: 47
GCID: GC01P021766

neuroblastoma breakpoint family, member 3

 Explore 6 diseases affiliated with
NBPF3 via our new
 Human Malady Compendium 
Biological research products
for NBPF3
    

(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 31 2
AE21 2
Protein SHIIIa42 3
Neuroblastoma Breakpoint Family Member 32
Protein AE23

External Ids:    HGNC: 250761   Entrez Gene: 842242   Ensembl: ENSG000001427947   OMIM: 6129925   UniProtKB: Q9H0943   

Export aliases for NBPF3 gene to outside databases

Previous GC identifers: GC01P021512 GC01P021639 GC01P020010


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

Gene Wiki entry for NBPF3


(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_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NBPF3 gene promoter:
         Max1   p53   AP-4   AREB6   CREB   HEN1   deltaCREB   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNBPF3 promoter sequence
   Search SABiosciences Chromatin IP Primers for NBPF3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NBPF3


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

Entrez Gene cytogenetic band: 1p36.12   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.12

NBPF3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBPF3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P021766:  view genomic region     (about GC identifiers)

Start:
21,766,621 bp from pter      End:
21,811,498 bp from pter
Size:
44,878 bases      Orientation:
plus 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: NBPF3_HUMAN, Q9H094 (See protein sequence)
Recommended Name: Neuroblastoma breakpoint family member 3  
Size: 633 amino acids; 72951 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=AAH24011.1; Type=Frameshift; Positions=252; Sequence=CAH72077.1; Type=Erroneous gene model
prediction; Sequence=CAH72078.1; Type=Erroneous gene model prediction;
Secondary accessions: A8K965 B4DSP2 I3L0I8 Q3BBW1 Q5VTG2 Q5VTG3 Q5VTG4 Q8IX78 Q8ND86 Q8TC96
Alternative splicing: 5 isoforms:  Q9H094-1   Q9H094-2   Q9H094-3   Q9H094-4   Q9H094-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NBPF3: NX_Q9H094

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H094

  • NBPF3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243345.1  NP_001243346.1  NP_115640.1  

    ENSEMBL proteins: 
     ENSP00000316739   ENSP00000340336   ENSP00000391865   ENSP00000415711   ENSP00000316782  

    Human Recombinant Protein Products: 
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    Uscn Proteins for NBPF3

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

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


    NBPF3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NBPF3


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

    NBPF3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR010630 NBPF_dom

    Graphical View of Domain Structure for InterPro Entry Q9H094

    ProtoNet protein and cluster: Q9H094

    UniProtKB/Swiss-Prot: NBPF3_HUMAN, Q9H094
    Similarity: Belongs to the NBPF family
    Similarity: Contains 5 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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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBPF3

    1 GenomeRNAi human phenotype for NBPF3:
     Increased G1 DNA content 


    (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 NBPF3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/8 Interacting proteins for NBPF3 (Q9H0942, 3 ENSP000003167824) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSEN15Q8WW013, ENSP000003552994I2D: score=3 STRING: ENSP00000355299
    ANK1P161573, ENSP000002657094I2D: score=1 STRING: ENSP00000265709
    EWSR1Q018443, ENSP000003810314I2D: score=3 STRING: ENSP00000381031
    UBCENSP000003448184STRING: ENSP00000344818
    --Q9BWA23, 2MINT-67372 I2D: score=1 
    About this table

    (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 NBPF3
    Search CenterWatch for drugs/clinical trials and news about NBPF3 

    (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 NBPF3 gene (3 alternative transcripts): 
    NM_001256416.1  NM_001256417.1  NM_032264.3  

    Unigene Cluster for NBPF3:

    Neuroblastoma breakpoint family, member 3
    Hs.325422  [show with all ESTs]
    Unigene Representative Sequence: NR_046176
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000475869 ENST00000318220(uc001ber.3 uc001bes.3 uc010odm.2)
    ENST00000478653 ENST00000485941 ENST00000342104(uc009vqb.3) ENST00000486229
    ENST00000434838 ENST00000467103 ENST00000469876 ENST00000477050 ENST00000454000
    ENST00000318249

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF379629.1 AK095602.1 AK098438.1 AK292580.1 AK299840.1 AK314597.1 AL136890.1 AL834330.1 
    AY598326.1 AY894564.1 BC024011.2 NR_046176.1 

    17 DOTS entries:

    DT.102844330  DT.100642381  DT.121451686  DT.121451697  DT.121451700  DT.121451706  DT.91661120  DT.95071746 
    DT.121451666  DT.121451691  DT.121451711  DT.121346666  DT.121451670  DT.121451675  DT.121451677  DT.121451710 
    DT.449222 

    24/59 AceView cDNA sequences (see all 59):

    NM_032264 AL136890 AA256559 BG028790 BF431439 BX339658 AA768120 AI378933 
    AI273699 CB148704 AY598326 AL834330 BE615208 BX283934 BE615260 BE615086 
    AI678218 BM817729 BI909818 BV173019 AA372620 CB118666 BC024011 W58508 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for NBPF3 (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^
    SP1:                                                  -     -     -                       -     -                                                               
    SP2:                                                        -     -                                                                                             
    SP3:                                                                                                                                                            
    SP4:                                                        -     -                                                                                             
    SP5:                                                  -     -                                                                                                   

    ExUns: 12 ^ 13a · 13b · 13c ^ 14 ^ 15
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for NBPF3

    (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

    NBPF3 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 NBPF3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NBPF3

    SOURCE GeneReport for Unigene cluster: Hs.325422

    UniProtKB/Swiss-Prot: NBPF3_HUMAN, Q9H094
    Tissue specificity: Expressed in testis and fetal heart, as well as in non small cell lung carcinoma and neuroblastoma
    cell line

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    In Situ
    Assay Products:
     

     
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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
      --

    ENSEMBL Gene Tree for NBPF3 (if available)
    TreeFam Gene Tree for NBPF3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NBPF3 gene
    NBPF62  NBPF202  NBPF82  ENSG000002326372  NBPF162  NBPF92  NBPF42  NBPF112  
    NBPF242  NBPF152  NBPF122  NBPF142  NBPF102  
    18 SIMAP similar genes for NBPF3 using alignment to 1 protein entry:     NBPF3_HUMAN:
    NBPF21    NBPF24    NBPF8    NBPF10    LOC101059961    NBPF20
    NBPF12    NBPF14    NBPF9    NBPF1    AL592307.2    NBPF7
    NBPF11    NBPF15    NBPF16    NBPF5    NBPF4    NBPF6

    NBPF3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NBPF3
    PGOHUM00000243928


    (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

    10/1120 NCBI SNPs in NBPF3 are shown (see all 1120    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1469448171,2
    --21764708(+) TCAAGC/GAATTC 4 -- us2k10--------
    rs1913614301,2
    --21764942(+) CATGCC/TTCATT 4 -- us2k10--------
    rs752411821,2
    --21765069(+) AAGTGC/TTCACT 4 -- us2k12Minor allele frequency- T:0.04CSA NA 121
    rs764833321,2
    F,--21765147(+) TATTTA/CATCCT 4 -- us2k11Minor allele frequency- C:0.03NA 120
    rs66806281,2
    C,F,--21765211(+) GAATGG/AAAACT 4 -- us2k111Minor allele frequency- A:0.32NA WA CSA EA 372
    rs66681411,2
    C,F,--21765268(+) TAGGGG/CCTGGG 4 -- us2k111Minor allele frequency- C:0.23NA WA CSA EA 373
    rs66808421,2
    C,--21765428(+) CCTTCG/AGAAGG 4 -- us2k1 tfbs31Minor allele frequency- A:0.50WA 2
    rs1830641541,2
    --21765500(+) GTGTCA/GCCCAC 4 -- us2k10--------
    rs1149278991,2
    --21765531(+) GAACTA/TCTGTG 4 -- us2k10--------
    rs1142034361,2
    --21765532(+) AACTTA/CTGTGT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for NBPF3 (21766621 - 21811498 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 22 variations for NBPF3
         12 CNVs: 3285 68208 31611 84125 74404 84120 30378 74409 84126 84122 47845 68207
         9 Indels: 84124 74406 24068 84123 74408 74405 97315 84121 74407
         1 Inversion: 59651

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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

    NBPF3 for disorders           About GeneDecksing

    OMIM gene information: 612992    OMIM disorders: --

    6 diseases for NBPF3:    About MalaCards
    neuroblastoma    non-small cell lung carcinoma    lung carcinoma    homocysteine
    lung cancer    carcinoma


    Export disorders for NBPF3 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 NBPF3 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with NBPF3)
        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. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    3. Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. (PubMed id 15334068)1, 2 Petroziello J.... Carter P. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    6. Genome-wide association study identifies loci influenc ing concentrations of liver enzymes in plasma. (PubMed id 22001757)1 Chambers J.C....Kooner J.S. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Common genetic variants associate with serum phosphor us concentration. (PubMed id 20558539)1 Kestenbaum B....Fox C.S. (2010)
    10. Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. (PubMed id 19303062)1 Tanaka T....Ferrucci L. (2009)

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

      Query String
    PubMed
    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84224 HGNC: 25076 AceView: AE2 Ensembl:ENSG00000142794 euGenes: HUgn84224
    ECgene: NBPF3 H-InvDB: NBPF3

    (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 NBPF3 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 NBPF3 gene:
    Search GeneIP for patents involving NBPF3

    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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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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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