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NBPF12 Gene

protein-coding   GIFtS: 29
GCID: GC01P146376

Neuroblastoma Breakpoint Family, Member 12

(Previous name: KIAA1245)
(Previous symbol: KIAA1245)
  See NBPF12-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 121 2
KIAA12451 2 3 5
COAS12 3 5
Chromosome 1 Amplified Sequence 12 3
Chomosome One Amplified Sequence 1 Cyclophilin2
Neuroblastoma Breakpoint Family Member 122

External Ids:    HGNC: 242971   Entrez Gene: 1490132   Ensembl: ENSG000001862757   OMIM: 6086075   UniProtKB: Q5TAG43   

Export aliases for NBPF12 gene to outside databases

Previous GC identifers: GC01P143685 GC01U901244 GC01M144746 GC01P144927 GC01M146617


(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 NBPF12 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 NBPF12 Gene:
NBPF12 (neuroblastoma breakpoint family, member 12) is a protein-coding gene. Diseases associated with NBPF12 include neuroblastoma, and schizophrenia. 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 NBPF12
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NBPF12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NBPF12


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

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

NBPF12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBPF12 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P146376:  view genomic region     (about GC identifiers)

Start:
146,373,546 bp from pter      End:
146,467,744 bp from pter
Size:
94,199 bases      Orientation:
plus strand

(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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NBPFC_HUMAN, Q5TAG4 (See protein sequence)
Recommended Name: Neuroblastoma breakpoint family member 12  
Size: 269 amino acids; 31307 Da
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=CAI22485.1; Type=Erroneous initiation;
Secondary accessions: O95877

Explore the universe of human proteins at neXtProt for NBPF12: NX_Q5TAG4

Explore proteomics data for NBPF12 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NBPF12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001265070.1  
    ENSEMBL proteins: 
     ENSP00000391116   ENSP00000396525   ENSP00000311131   ENSP00000391949   ENSP00000407570  
     ENSP00000403340   ENSP00000414845   ENSP00000408372   ENSP00000407863   ENSP00000440069  

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    (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 Q5TAG4

    ProtoNet protein and cluster: Q5TAG4

    UniProtKB/Swiss-Prot: NBPFC_HUMAN, Q5TAG4
    Similarity: Belongs to the NBPF family
    Similarity: Contains 3 NBPF domains


    Find genes that share domains with NBPF12           About GenesLikeMe


    (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,
    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:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NBPF12
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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
    NBPFC_HUMAN, Q5TAG4: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with NBPF12           About GenesLikeMe


    (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 NBPF12
    Interactions:

        Search GeneGlobe Interaction Network for NBPF12

    (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 NBPF12 (NBPFC)



    (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 NBPF12 gene: 
    NM_001278141.1  

    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000442909(uc021ovf.1 uc021ovg.1 uc010ozk.1 uc010ozl.2)
    ENST00000446760 ENST00000309471 ENST00000439206 ENST00000446080 ENST00000447862
    ENST00000438910 ENST00000414957 ENST00000438411 ENST00000537773
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    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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    NBPF12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NBPF12 Expression
    About this image

    NBPF12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NBPF12 Protein Expression

    UniProtKB/Swiss-Prot: NBPFC_HUMAN, Q5TAG4
    Tissue specificity: Widely expressed with highest levels in brain, ovary, mammary gland, skin and adipose tissue.
    Also expressed in testis. Detected in a number of tumors including osteosarcoma, mammary carcinoma and
    hepatocellular carcinoma

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

    Orthologs for NBPF12 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
    37(a)
    1 → many
    17(57512543-57515264)


    ENSEMBL Gene Tree for NBPF12 (if available)
    TreeFam Gene Tree for NBPF12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NBPF12 gene
    NBPF111 2  NBPF141 2  NBPF101 2  NBPF11 2  NBPF91 2  NBPF81 2  NBPF151 2  LOC102724250  
    NBPF26  NBPF19  NBPF201 2  NBPF62  NBPF32  ENSG000002038362  NBPF42  ENSG000002038272  
    17 SIMAP similar genes for NBPF12 using alignment to 7 protein entries:     NBPFC_HUMAN (see all proteins):
    NBPF21    NBPF24    NBPF1    NBPF20    NBPF11    NBPF15
    NBPF16    NBPF14    NBPF10    NBPF8    AL592307.2    NBPF9
    NBPF7    NBPF5P    NBPF3    NBPF6    NBPF4

    Find genes that share paralogs with NBPF12           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NBPF12
    PGOHUM00000259454


    (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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    Selected SNPs for NBPF12 (see all 204)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1817076331,2
    --1(+) TTTTTG/TAGATG 1 -- int10--------
    rs1864079181,2
    --1(+) AGTAAA/CGACGG 1 -- int10--------
    rs1864563211,2
    --1(+) AATAAA/GTGGCA 1 -- ds50010--------
    rs1905459001,2
    --1(+) GATGGG/TGAGCA 2 T P mis10--------
    rs1912068131,2
    C--1(+) TGTGTA/GAGCCA 1 -- int10--------
    rs3715382861,2
    C--1(+) TTATAC/TTGTGA 1 -- int10--------
    rs1808236821,2
    --146404138(+) TCACTC/GAATAT 1 -- int10--------
    rs1834645411,2
    --146404142(+) TCAATA/GTTGCC 1 -- int10--------
    rs1894828291,2
    C--146404152(+) CTTCTC/TGACCC 1 -- int10--------
    rs2010769791,2
    --146405139(+) CCAGG-/CTTCTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for NBPF12 (146373546 - 146467744 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NBPF12: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NBPF12
    DNA2.0 Custom Variant and Variant Library Synthesis for NBPF12

    (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: 608607    OMIM disorders: --

    2 diseases for NBPF12:    
    About MalaCards
    neuroblastoma    schizophrenia


    Find genes that share disorders with NBPF12           About GenesLikeMe


    Export disorders for NBPF12 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 NBPF12 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with NBPF12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21. (PubMed id 11948409)1, 2, 3 Meza-Zepeda L.A.... Myklebost O. (Oncogene 2002)
    2. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. (PubMed id 16079250)1, 2 Vandepoele K.... van Roy F. (Mol. Biol. Evol. 2005)
    3. 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)
    4. Evolutionary history and genome organization of DUF1220 protein domains. (PubMed id 22973535)1 O'Bleness M.S....Sikela J.M. (G3 (Bethesda) 2012)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1 Nagase T.... Ohara O. (DNA Res. 1999)
    9. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (Genome Res. 1997)
    10. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1 Andersson B.... Gibbs R.A. (Anal. Biochem. 1996)

    (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: 149013 HGNC: 24297 Ensembl:ENSG00000186275 euGenes: HUgn149013 ECgene: NBPF12
    H-InvDB: NBPF12

    (According to HUGE)
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    HUGE: KIAA1245

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NBPF12 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 NBPF12 gene:
    Search GeneIP for patents involving NBPF12

    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, LSBio, 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 inGenious Targeting Laboratory, genOway)
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    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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