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ZBBX Gene

protein-coding   GIFtS: 43
GCID: GC03M166958

Zinc Finger, B-Box Domain Containing

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(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
Zinc Finger, B-Box Domain Containing1 2
Zinc Finger B-Box Domain-Containing Protein 12

External Ids:    HGNC: 262451   Entrez Gene: 797402   Ensembl: ENSG000001690647   UniProtKB: A8MT703   

Export aliases for ZBBX gene to outside databases

Previous GC identifers: GC03M168440 GC03M164328


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ZBBX Gene:
ZBBX (zinc finger, B-box domain containing) is a protein-coding gene.


(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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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZBBX gene promoter:
         HFH-3   TBP   CUTL1   NF-E2 p45   FOXL1   FOXI1   FAC1   TFIID   FOXO1a   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZBBX promoter sequence
   Search Chromatin IP Primers for ZBBX

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


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

Entrez Gene cytogenetic band: 3q26.1   Ensembl cytogenetic band:  3q26.1   HGNC cytogenetic band: 3q26.1

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M166958:  view genomic region     (about GC identifiers)

Start:
166,958,075 bp from pter      End:
167,099,134 bp from pter
Size:
141,060 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ZBBX_HUMAN, A8MT70 (See protein sequence)
Recommended Name: Zinc finger B-box domain-containing protein 1  
Size: 800 amino acids; 91426 Da
Sequence caution: Sequence=BAB15532.1; Type=Erroneous initiation;
Secondary accessions: A8MV69 B3KSC1 B5MDJ6 Q9H5T8
Alternative splicing: 2 isoforms:  A8MT70-1   A8MT70-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZBBX: NX_A8MT70

Explore proteomics data for ZBBX at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186130.1  NP_001186131.1  NP_078963.2  

    ENSEMBL proteins: 
     ENSP00000376519   ENSP00000390232   ENSP00000417678   ENSP00000418861   ENSP00000376517  
     ENSP00000419264   ENSP00000419307   ENSP00000417088   ENSP00000376520   ENSP00000305065  

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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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    1 InterPro protein domain:
     IPR000315 Znf_B-box

    Graphical View of Domain Structure for InterPro Entry A8MT70

    ProtoNet protein and cluster: A8MT70

    UniProtKB/Swiss-Prot: ZBBX_HUMAN, A8MT70
    Similarity: Contains 1 B box-type zinc finger


    Find genes that share domains with ZBBX           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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with ZBBX           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ZBBX:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    hsa-miR-3664-5p hsa-miR-3688-3p hsa-miR-34b hsa-miR-7
    SwitchGear 3'UTR luciferase reporter plasmidZBBX 3' UTR sequence
    Inhib. RNA
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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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol1
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--

    Find genes that share ontologies with ZBBX           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 ZBBX
    Interactions:

        Search GeneGlobe Interaction Network for ZBBX

    (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 ZBBX



    (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 ZBBX gene (3 alternative transcripts): 
    NM_001199201.1  NM_001199202.1  NM_024687.3  

    Unigene Cluster for ZBBX:

    Zinc finger, B-box domain containing
    Hs.478143  [show with all ESTs]
    Unigene Representative Sequence: NM_001199201
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392766(uc011bpc.2 uc003feq.3 uc003fep.3) ENST00000455345
    ENST00000494898 ENST00000492642 ENST00000392764 ENST00000464922 ENST00000465071
    ENST00000469220 ENST00000474464 ENST00000485651 ENST00000473888 ENST00000392767
    ENST00000307529
    miRNA
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    hsa-miR-3664-5p hsa-miR-3688-3p hsa-miR-34b hsa-miR-7
    SwitchGear 3'UTR luciferase reporter plasmidZBBX 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ZBBX

    Additional mRNA sequence: 

    AK026702.1 AK093296.1 BC034229.1 BC144444.1 

    10 DOTS entries:

    DT.109670  DT.120897114  DT.100752081  DT.100752082  DT.120897125  DT.95257285  DT.95313234  DT.100022036 
    DT.100022037  DT.91730265 

    Selected AceView cDNA sequences (see all 53):

    AW663441 BU674688 BM979266 BM927090 CA312790 CB321707 AA398571 AA348419 
    CD103788 AA922191 AW197827 CB243818 AK093296 BV204591 AA393499 AW181926 
    CN478727 CN478675 AW079902 CA314860 BI462608 AA890166 AI221656 AI219735 

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

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

    ZBBX Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.478143
        Custom PCR Arrays for ZBBX
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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 chordates.

    Orthologs for ZBBX gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zbbx1 , 5 zinc finger, B-box domain containing1, 5 73.6(n)1
    56.86(a)1
      3 (33.72 cM)5
    2132341  NM_172515.21  NP_766103.21 
     750379075 
    chicken
    (Gallus gallus)
    Aves ZBBX6
    zinc finger, B-box domain containing
    13(a)
    1 ↔ 1
    9(20136892-20151401)
    lizard
    (Anolis carolinensis)
    Reptilia ZBBX6
    zinc finger, B-box domain containing
    10(a)
    1 ↔ 1
    3(9586933-9660643)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia zbbx1 zinc finger, B-box domain containing 53.55(n)
    43.36(a)
      100496198  XM_002931565.2  XP_002931611.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zbbx6
    zinc finger, B-box domain containing
    11(a)
    1 ↔ 1
    18(4099246-4155631) ENSDARG00000069723


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 ZBBX (see all 2807)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1162563961,2
    C,F--166957586(+) GTGTAT/CTAGTC 3 -- int11Minor allele frequency- C:0.01NA 120
    rs1828662101,2
    --166957592(+) TAGTCC/TGTTCT 3 -- int10--------
    rs1112663771,2
    C--166957658(+) TAATTG/TACTCA 3 -- int10--------
    rs1381420731,2
    C--166957696(+) GGAAAC/TCATGG 3 -- int10--------
    rs559898361,2
    C,F--166957734(+) TCAAGT/CGGAGC 3 -- int12Minor allele frequency- C:0.12WA 120
    rs1404867161,2
    --166957780(+) CCCTTA/GTAAAA 3 -- int10--------
    rs1504350121,2
    --166957781(+) CCTTAA/TAAAAC 3 -- int10--------
    rs601462341,2
    C,F--166957814(+) TTATCA/GCGAGA 3 -- int12Minor allele frequency- G:0.13WA EA 238
    rs754905211,2
    C--166957828(+) GCAGCA/CCGGGG 3 -- int12Minor allele frequency- C:0.25NA 4
    rs1161187161,2
    F--166957866(+) CCCACC/AAGGTC 3 -- int11Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for ZBBX (166958075 - 167099134 bp)

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

    (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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    1 disease from the University of Copenhagen DISEASES database for ZBBX:
    Attention deficit hyperactivity disorder

    Find genes that share disorders with ZBBX           About GenesLikeMe


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

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    4. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    5. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 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: 79740 HGNC: 26245 AceView: FLJ23049 Ensembl:ENSG00000169064 euGenes: HUgn79740
    ECgene: ZBBX H-InvDB: ZBBX

    (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 ZBBX 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 ZBBX gene:
    Search GeneIP for patents involving ZBBX

    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, 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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     Search Addgene for plasmids for ZBBX
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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

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