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

NBPF14 Gene

protein-coding   GIFtS: 40
GCID: GC01M148003

Neuroblastoma Breakpoint Family, Member 14

  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 141 2
AE52
DJ328E19.C1.12
NBPF2
Neuroblastoma Breakpoint Family Member 142

External Ids:    HGNC: 252321   Entrez Gene: 258322   Ensembl: ENSG000001224977   OMIM: 6140035   UniProtKB: Q5TI253   

Export aliases for NBPF14 gene to outside databases

Previous GC identifers: GC01M145120 GC01M146470


(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 NBPF14 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, May 2013)

GeneCards Summary for NBPF14 Gene: 
NBPF14 (neuroblastoma breakpoint family, member 14) is a protein-coding gene. Diseases associated with NBPF14 include neuroblastoma, and endotheliitis. 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_167185.1  NC_018912.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NBPF14
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NBPF14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NBPF14


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

Entrez Gene cytogenetic band: 1q21.1   Ensembl cytogenetic band:  1q21.2   HGNC cytogenetic band: 1q21.1

NBPF14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBPF14 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M148003:  view genomic region     (about GC identifiers)

Start:
148,003,642 bp from pter      End:
148,025,863 bp from pter
Size:
22,222 bases      Orientation:
minus 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/Swiss-Prot: NBPFE_HUMAN, Q5TI25 (See protein sequence)
Recommended Name: Neuroblastoma breakpoint family member 14  
Size: 921 amino acids; 105853 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=CAI20179.1; Type=Erroneous initiation; Sequence=CAI20180.1; Type=Erroneous gene model
prediction; Sequence=CAI20181.1; Type=Erroneous gene model prediction; Sequence=CAI20182.1; Type=Erroneous gene
model prediction; Sequence=CAI20183.1; Type=Erroneous gene model prediction; Sequence=CAI20184.1; Type=Erroneous
gene model prediction; Sequence=CAI20185.1; Type=Erroneous gene model prediction; Sequence=CAI20186.1;
Type=Erroneous gene model prediction;
Secondary accessions: Q5TI23 Q8IX76 Q9UJI9

Explore the universe of human proteins at neXtProt for NBPF14: NX_Q5TI25

Explore proteomics data for NBPF14 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5TI25

  • NBPF14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NBPF14 Protein Expression
    REFSEQ proteins: NP_056198.2  
    ENSEMBL proteins: 
     ENSP00000309907   ENSP00000397707   ENSP00000403155   ENSP00000411975   ENSP00000416860  
     ENSP00000410336   ENSP00000376698   ENSP00000396201   ENSP00000358221  

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    Cloud-Clone Corp. Proteins for NBPF14 

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

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

    NBPF14 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 Q5TI25

    ProtoNet protein and cluster: Q5TI25

    UniProtKB/Swiss-Prot: NBPFE_HUMAN, Q5TI25
    Similarity: Belongs to the NBPF family
    Similarity: Contains 10 NBPF domains


    NBPF14 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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NBPF14 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NBPF14 
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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 NBPF14

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for NBPF14 (Q5TI253 ENSP000003582214) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYBP102423I2D: score=1 
    TFDP2ENSP000003096224STRING: ENSP00000309622
    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 NBPF14 (NBPFE)

    Search CenterWatch for drugs/clinical trials and news about NBPF14 / NBPFE

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 NBPF14 gene: 
    NM_015383.2  

    Unigene Cluster for NBPF14:

    Neuroblastoma breakpoint family, member 14
    Hs.732082  [show with all ESTs]
    Unigene Representative Sequence: AF379622
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310701(uc001eqq.3 uc021ovz.1 uc021owa.1) ENST00000444640(uc021owd.1)
    ENST00000431121 ENST00000436356 ENST00000448574 ENST00000458135 ENST00000392972
    ENST00000426874 ENST00000369219(uc010pad.1 uc021owc.1 uc021owe.1)

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidNBPF14 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NBPF14
    Sirion Biotech Customized lentivirus for stable overexpression of NBPF14 
                         Customized lentivirus expression plasmids for stable overexpression of NBPF14 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NBPF14

    Additional mRNA sequence: AF379622.1 

    18 DOTS entries:

    DT.91786973  DT.102843950  DT.451039  DT.95377943  DT.121436046  DT.100058829  DT.100059221  DT.100858688 
    DT.100861446  DT.121451702  DT.121460231  DT.121460586  DT.40260980  DT.87017630  DT.91708312  DT.91974142 
    DT.91983631  DT.99963054 

    24/219 AceView cDNA sequences (see all 219):

    BM454751 BM665124 AI373099 D31148 AI671614 AA577102 AA478452 AA447033 
    AF379611 BP373673 CD238749 BX646450 AW675613 AA954844 BG723546 AA398843 
    AI094039 AK124686 BE221919 AK055895 BQ682424 BF798046 AL043485 AI149616 

    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

    NBPF14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NBPF14 Expression
    About this image


    See NBPF14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NBPF14

    SOURCE GeneReport for Unigene cluster: Hs.732082

    UniProtKB/Swiss-Prot: NBPFE_HUMAN, Q5TI25
    Tissue specificity: Expressed in spleen and fetal liver

        SABiosciences Custom PCR Arrays for NBPF14
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBPF14

    (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 NBPF14 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 --
    --
    36(a)
    possible ortholog
    17(57512543-57515264)


    ENSEMBL Gene Tree for NBPF14 (if available)
    TreeFam Gene Tree for NBPF14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NBPF14 gene
    NBPF91 2  NBPF161 2  NBPF151 2  NBPF121 2  NBPF11 2  NBPF241 2  NBPF111 2  NBPF101 2  
    NBPF62  NBPF32  NBPF202  NBPF82  NBPF42  
    18/19 SIMAP similar genes for NBPF14 using alignment to 4 protein entries:     NBPFE_HUMAN (see all proteins) (see all similar genes):
    NBPF21    NBPF8    NBPF8P    NBPF1    NBPF15    NBPF16
    AL592307.2    NBPF20    NBPF24    NBPF12    NBPF9    LOC101059961
    NBPF11    NBPF3    NBPF10    NBPF7    NBPF5P    NBPF6

    NBPF14 for paralogs           About GeneDecksing



    (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

    10/544 SNPs in NBPF14 are shown (see all 544)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0323814
    ----see VAR_0323812 S G mis40--------
    VAR_0323824
    ----see VAR_0323822 R C mis40--------
    rs1900662631,2
    --148003683(+) CTCCTC/TTTTGT 1 -- ut310--------
    rs1389729961,2
    C--148003801(+) TTAAGC/TGTTTT 1 -- ut310--------
    rs1473594341,2
    C--148004232(+) GCTCAA/GAGACA 1 -- ut310--------
    rs2013331621,2
    C--148004307(+) ATGTCC/TGACTG 1 -- ut310--------
    rs1995842911,2
    C--148004422(+) AGGAAA/TAGAGC 1 -- ut310--------
    rs618101971,2
    C--148004440(+) ACTGAA/CCCATC 1 -- ut310--------
    rs2004980681,2
    C--148004497(+) ACGTGC/TTATAG 1 -- ut311Minor allele frequency- T:0.00EU 1323
    rs2014027011,2
    C--148004507(+) AGGTCC/TTGCCT 1 -- ut311Minor allele frequency- T:0.00EU 1323

    HapMap Linkage Disequilibrium report for NBPF14 (148003642 - 148025863 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for NBPF14 (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2717607CNV Deletion23290073
    nsv2755CNV Insertion18451855
    nsv35CNV Insertion15895083
    dgv359n71CNV Loss21882294
    dgv7e55CNV Loss17911159
    nsv872286CNV Loss21882294
    nsv428235CNV Gain18775914
    esv23584CNV Gain19812545
    dgv357n71CNV Gain21882294
    esv2750807CNV Gain17911159

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NBPF14
    DNA2.0 Custom Variant and Variant Library Synthesis for NBPF14

    (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: 614003    OMIM disorders: --

    2 diseases for NBPF14:    About MalaCards
    neuroblastoma    endotheliitis


    NBPF14 for disorders           About GeneDecksing


    Export disorders for NBPF14 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 NBPF14 gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with NBPF14)
        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. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    3. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    4. 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)
    5. Evolutionary history and genome organization of DUF122 0 protein domains. (PubMed id 22973535)1 O'Bleness M.S....Sikela J.M. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Genome-wide association study implicates PARD3B-based AIDS restriction. (PubMed id 21502085)1 Troyer J.L....O'Brien S.J. (2011)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 25832 HGNC: 25232 AceView: FLJ20719 Ensembl:ENSG00000122497 euGenes: HUgn25832
    ECgene: NBPF14 H-InvDB: NBPF14

    (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 NBPF14 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 NBPF14 gene:
    Search GeneIP for patents involving NBPF14

    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)
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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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