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

NBPF8 Gene

protein-coding   GIFtS: 34
GCID: GC01P144172

Neuroblastoma Breakpoint Family, Member 8

(Previous names: neuroblastoma breakpoint family, member 8, pseudogene)
(Previous symbol: NBPF8P)
  See 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)
About This Section

Aliases
Neuroblastoma Breakpoint Family, Member 81 2
NBPF8P1 2
Neuroblastoma Breakpoint Family, Member 8, Pseudogene1 2
Neuroblastoma Breakpoint Family Member 82
Putative Neuroblastoma Breakpoint Family Member 82

External Ids:    HGNC: 319901   Entrez Gene: 7288412   Ensembl: ENSG000001628257   OMIM: 6139985   UniProtKB: Q5U2274   

Export aliases for NBPF8 gene to outside databases

Previous GC identifers: GC01U901189 GC01M144745 GC01P142861 GC01P143315 GC01P144147 GC01P144150 GC01P144154 GC01P144166


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

Entrez Gene summary for NBPF8 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 NBPF8 Gene: 
NBPF8 (neuroblastoma breakpoint family, member 8) is a protein-coding gene. Diseases associated with NBPF8 include genital herpes, 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_079497.3  NC_018912.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NBPF8
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NBPF8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NBPF8


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

NBPF8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBPF8 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P144172:  view genomic region     (about GC identifiers)

Start:
144,146,787 bp from pter      End:
144,224,481 bp from pter
Size:
77,695 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/TrEMBL: Q5U227 (See protein sequence)
Recommended Name: NBPF8 protein  
Size: 835 amino acids; 95876 Da

Explore proteomics data for NBPF8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5U227

  • NBPF8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NBPF8 Protein Expression
    REFSEQ proteins: NP_001032590.2  
    ENSEMBL proteins: 
     ENSP00000404564   ENSP00000358372   ENSP00000358191   ENSP00000358379   ENSP00000349255  
     ENSP00000412038   ENSP00000358380  

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

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

    NBPF8 for ontologies           About GeneDecksing



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

    1 InterPro protein domain:
     IPR010630 NBPF_dom

    Graphical View of Domain Structure for InterPro Entry Q5U227

    ProtoNet protein and cluster: Q5U227


    NBPF8 for domains           About GeneDecksing


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

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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NBPF8

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

    4 Interacting proteins for NBPF8 (ENSP000003583724) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC73ENSP000003564054STRING: ENSP00000356405
    DESI2ENSP000003065284STRING: ENSP00000306528
    ESR2ENSP000003439254STRING: ENSP00000343925
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 NBPF8

    Search CenterWatch for drugs/clinical trials and news about NBPF8

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NBPF8 gene: 
    NM_001037501.2  

    Unigene Clusters for NBPF8:

    Neuroblastoma breakpoint family, member 8
    Hs.534675  [show with all ESTs], Hs.744197  [show with all ESTs]
    Unigene Representative Sequences: XR_110613, XR_171240
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000412624 ENST00000369365(uc021oti.1 uc001ejz.1 uc021otn.1 uc021otm.1 uc021otl.1 uc021otq.1 uc021ott.1 uc021otk.1 uc001ekl.2 uc010oyb.2 uc021otw.1 uc021otx.1 uc021otp.1 uc021otu.1 uc021otv.1 uc010oxn.1 uc021oth.1 uc021otj.1 uc021oto.1 uc021otr.1 uc001ekk.1 uc021ots.1)
    ENST00000369190 ENST00000369372 ENST00000356801 ENST00000421555 ENST00000369373

    miRNA
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    Additional mRNA sequence: XR_171240.1 

    24/49 DOTS entries (see all 49):

    DT.87017630  DT.100650944  DT.97782066  DT.121435708  DT.92387747  DT.121435547  DT.102841682  DT.91708312 
    DT.121435771  DT.87017632  DT.95083311  DT.100861446  DT.121435658  DT.40260980  DT.100058829  DT.97759826 
    DT.100059221  DT.100646648  DT.87078282  DT.91974142  DT.95247186  DT.95378315  DT.100059352  DT.121460329 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NBPF8    About this scheme

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


    ECgene alternative splicing isoforms for NBPF8

    (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

    NBPF8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NBPF8 Expression
    About this image


    See NBPF8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NBPF8

    SOURCE GeneReport for Unigene clusters: Hs.534675 Hs.744197
        SABiosciences Custom PCR Arrays for NBPF8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBPF8

    (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 mammals.

    Orthologs for NBPF8 gene from 1/3 species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia --
    --
    37(a)
    possible ortholog
    17(57512543-57515264)


    ENSEMBL Gene Tree for NBPF8 (if available)
    TreeFam Gene Tree for NBPF8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NBPF8 gene
    NBPF62  NBPF32  NBPF202  NBPF162  NBPF92  NBPF42  NBPF112  NBPF242  
    NBPF152  NBPF12  NBPF142  NBPF102  NBPF122  
    18/19 SIMAP similar genes for NBPF8 using alignment to 1 protein entry:     Q5U227_HUMAN(see all similar genes):
    NBPF1    NBPF8P    NBPF14    NBPF15    NBPF16    NBPF21
    AL592307.2    LOC101059961    NBPF20    NBPF24    NBPF12    NBPF9
    NBPF10    NBPF11    NBPF3    NBPF7    NBPF5P    NBPF6

    NBPF8 for paralogs           About GeneDecksing


    5/10 Pseudogenes.org Pseudogenes for NBPF8 (see all 10)
    PGOHUM00000259451 PGOHUM00000259452 PGOHUM00000259479 PGOHUM00000259480 PGOHUM00000244217


    (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) 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

    10/169 SNPs in NBPF8 are shown (see all 169)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs39613591,2
    A--121074111(-) CCTGGG/TCATGT 1 -- int10--------
    rs39613581,2
    A--121074130(-) GCTGAG/TCTGAC 1 -- int10--------
    rs50141761,2
    C--144162278(-) CCCTGC/TGGCAA 1 -- int10--------
    rs50141771,2
    C--144162282(-) TCCTCA/CCTGTG 1 -- int10--------
    rs1916844821,2
    --144168520(+) TGGCTC/GTTGAC 1 -- nc-transcript-variant0--------
    rs1849026761,2
    --144168532(+) TGGATA/GGTGAG 1 -- nc-transcript-variant0--------
    rs761646661,2
    C--144168557(+) GGTGAA/TAAGGA 1 -- int10--------
    rs1396421211,2
    C--144169684(+) TTTCT-/CTCTCT 1 -- int10--------
    rs1899443781,2
    --144179721(+) AAGTGC/GCCCTT 1 -- int10--------
    rs2015984651,2
    C--144180794(+) AGCTCA/GTTCTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for NBPF8 (144146787 - 144224481 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NBPF8: --
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NBPF8
    DNA2.0 Custom Variant and Variant Library Synthesis for NBPF8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613998    OMIM disorders: --

    2 diseases for NBPF8:    About MalaCards
    genital herpes    neuroblastoma

    1 disease from the University of Copenhagen DISEASES database for NBPF8:
    Genital herpes

    NBPF8 for disorders           About GeneDecksing


    Export disorders for NBPF8 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 NBPF8 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NBPF8)
        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, 3 Vandepoele K.... van Roy F. (2005)
    2. Why do cellular proteins linked to K63-polyubiquitin c hains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (2013)
    3. Evolutionary history and genome organization of DUF122 0 protein domains. (PubMed id 22973535)1 O'Bleness M.S....Sikela J.M. (2012)
    4. DUF1220-domain copy number implicated in human brain-s ize pathology and evolution. (PubMed id 22901949)1 Dumas L.J....Sikela J.M. (2012)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    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: 728841 HGNC: 31990 Ensembl:ENSG00000162825 euGenes: HUgn728841 ECgene: NBPF8
    H-InvDB: NBPF8

    (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 NBPF8 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 NBPF8 gene:
    Search GeneIP for patents involving NBPF8

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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