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ZBTB48 Gene

protein-coding   GIFtS: 49
GCID: GC01P006640

Zinc Finger And BTB Domain Containing 48

(Previous name: GLI-Kruppel family member HKR3)
(Previous symbol: HKR3)
  See related disease
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
Zinc Finger And BTB Domain Containing 481 2     ZNF8552 3
HKR31 2 3 5     pp99642
GLI-Kruppel Family Member HKR31 2     Zinc Finger And BTB Domain-Containing Protein 482
Krueppel-Related Zinc Finger Protein 32 3     Protein HKR33
Zinc Finger Protein 8552 3     

External Ids:    HGNC: 49301   Entrez Gene: 31042   Ensembl: ENSG000002048597   OMIM: 1652705   UniProtKB: P100743   

Export aliases for ZBTB48 gene to outside databases

Previous GC identifers: GC01P006562 GC01P005788


(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 ZBTB48 Gene:
ZBTB48 (zinc finger and BTB domain containing 48) is a protein-coding gene. Diseases associated with ZBTB48 include neuroblastoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ZBTB10.

UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074
Function: Binds to and regulates the J and/or S elements in MHC II promoter




(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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZBTB48 gene promoter:
         Pax-5   SREBP-1c   FOXO3   FOXO3b   SREBP-1b   N-Myc   PPAR-alpha   SREBP-1a   FOXO3a   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZBTB48 promoter sequence
   Search Chromatin IP Primers for ZBTB48

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZBTB48


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

Entrez Gene cytogenetic band: 1p36.3   Ensembl cytogenetic band:  1p36.31   HGNC cytogenetic band: 1p36.3

ZBTB48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZBTB48 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P006640:  view genomic region     (about GC identifiers)

Start:
6,640,061 bp from pter      End:
6,649,340 bp from pter
Size:
9,280 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074 (See protein sequence)
Recommended Name: Zinc finger and BTB domain-containing protein 48  
Size: 688 amino acids; 77054 Da
1 PDB 3D structure from and Proteopedia for ZBTB48:
3B84 (3D)    
Secondary accessions: Q5SY19

Explore the universe of human proteins at neXtProt for ZBTB48: NX_P10074

Explore proteomics data for ZBTB48 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZBTB48 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001265576.1  NP_001265577.1  NP_005332.1  

    ENSEMBL proteins: 
     ENSP00000313416   ENSP00000416054   ENSP00000366902   ENSP00000466390   ENSP00000467104  

    ZBTB48 Human Recombinant Protein Products:

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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:
    BTBD: BTB/POZ domain containing
    ZNF: Zinc fingers, C2H2-type

    Selected InterPro protein domains (see all 6):
     IPR000210 BTB/POZ-like
     IPR015880 Znf_C2H2-like
     IPR011333 BTB/POZ_fold
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry P10074

    ProtoNet protein and cluster: P10074

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB007086 C2H2-type zinc finger signature


    UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 11 C2H2-type zinc fingers


    ZBTB48 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZBT48_HUMAN, P10074
    Function: Binds to and regulates the J and/or S elements in MHC II promoter

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS8661141
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    ZBTB48 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ZBTB48:
     Decreased viability  Proliferating cells 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ZBTB48
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    miRNA
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    miRTarBase miRNAs that target ZBTB48:
    hsa-mir-92b-3p (MIRT040593)

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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
    ZBT48_HUMAN, P10074: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    ZBTB48 for ontologies           About GeneDecksing


    (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 ZBTB48
    Interactions:

        Search GeneGlobe Interaction Network for ZBTB48

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ZBTB48 (P100742, 3 ENSP000003669024) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PNRC2Q9NPJ42, 3, ENSP000003348404MINT-8267052 I2D: score=2 STRING: ENSP00000334840
    C11orf58O001932, 3MINT-8249942 I2D: score=2 
    CDK2AP2O759562, 3MINT-8251315 I2D: score=2 
    CDKN1AP389362, 3MINT-8252483 I2D: score=2 
    ILKQ134182, 3MINT-8258668 I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--

    ZBTB48 for ontologies           About GeneDecksing



    (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 ZBTB48 (ZBT48)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ZBTB48 gene (3 alternative transcripts): 
    NM_001278647.1  NM_001278648.1  NM_005341.3  

    Unigene Cluster for ZBTB48:

    Zinc finger and BTB domain containing 48
    Hs.502330  [show with all ESTs]
    Unigene Representative Sequence: BX648395
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000319084 ENST00000435905 ENST00000377674(uc009vmc.2 uc001anx.3 uc009vmd.2)
    ENST00000488936 ENST00000482360(uc001any.2) ENST00000498342 ENST00000466813
    ENST00000466941
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ZBTB48
      QuantiFast Probe-based Assays in human, mouse, rat ZBTB48

    Additional mRNA sequence: 

    AF318381.1 AK290156.1 AK312786.1 BC013573.2 BX648395.1 L16896.1 

    7 DOTS entries:

    DT.110889  DT.91730977  DT.97838797  DT.95257583  DT.97791447  DT.100724975  DT.91730964 

    Selected AceView cDNA sequences (see all 89):

    CA748466 NM_005341 CA306809 BX487258 BX648395 BG749003 AI369007 CD358885 
    AW014834 AJ711358 T29307 BF033273 AI656996 BC013573 BX336991 AL043234 
    BQ053233 BM544150 L16896 CA748465 BX441455 BX351700 BI908418 CK429810 

    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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    ZBTB48 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGATCCACG
    ZBTB48 Expression
    About this image


    ZBTB48 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    ZBTB48 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZBTB48 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502330

    UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074
    Tissue specificity: Detected in adrenal gland and neuroblastoma

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    In Situ
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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 ZBTB48 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zbtb481 , 5 zinc finger and BTB domain containing 481, 5 87.37(n)1
    91.78(a)1
      4 (82.83 cM)5
    1000901  NM_133879.21  NP_598640.21 
     1520197745 
    chicken
    (Gallus gallus)
    Aves ZBTB481 zinc finger and BTB domain containing 48 72.64(n)
    75.99(a)
      419370  NM_001044642.1  NP_001038107.1 
    lizard
    (Anolis carolinensis)
    Reptilia ZBTB486
    zinc finger and BTB domain containing 48
    83(a)
    1 ↔ 1
    GL344949.1(11239-15713)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.129582 Xenopus laevis transcribed sequence with moderate similarity more 76.92(n)    BJ098873.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zbtb481 zinc finger and BTB domain containing 48 59.2(n)
    56.43(a)
      567773  XM_691074.4  XP_696166.2 


    ENSEMBL Gene Tree for ZBTB48 (if available)
    TreeFam Gene Tree for ZBTB48 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ZBTB48 gene
    ZBTB102  ZBTB32  ZBTB182  ZBTB8A2  ZBTB442  ZBTB52  ENSG000002545532  ZBTB492  
    HIC12  MYNN2  HIC22  ZBTB422  ZBTB462  ZBTB8B2  ZBTB172  
    Selected SIMAP similar genes for ZBTB48 using alignment to 5 protein entries:     ZBT48_HUMAN (see all proteins) (see all similar genes):
    HKR3    ZNF263    ZNF55    ZNF763    ZNF78L1    A-328A3.4
    ZNF521    ZNF585B    ZNF32    ZNF565    BACH2    Nbla00121
    ZFS-2    ZNF234    ZNF    HZF36    ZFP1    ZNF501

    ZBTB48 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), 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 ZBTB48 (see all 306)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1162911001,2
    F--6640320(+) CCCTCC/TGCCGT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1900534231,2
    C--6640356(+) CAGTCC/TGTTCG 1 -- int10--------
    rs57722411,2
    C--6640437(+) CCATCC/-AGCAT 1 -- int12Minor allele frequency- -:0.00NA 4
    rs778723471,2
    C--6640469(+) TGGCCC/TCCGGC 1 -- int10--------
    rs120433031,2
    C--6640483(+) CGGGAA/GGCTGT 1 -- int10--------
    rs1810541761,2
    --6640518(+) CACCCC/TTCACC 1 -- int10--------
    rs1509749961,2
    C--6640620(+) ATACCC/GTCGCT 1 -- ut510--------
    rs1839913241,2
    C--6640645(+) TGTCAC/TTTCTG 1 -- ut510--------
    rs22293291,2
    C,F,H--6640661(+) CTGCCC/TTCCAG 1 -- ut51 ese37Minor allele frequency- T:0.05MN NS WA 1104
    rs1461280871,2
    C,F--6640675(+) ATGGAC/TGGCTC 2 D syn12Minor allele frequency- T:0.00NA EU 5247

    HapMap Linkage Disequilibrium report for ZBTB48 (6640061 - 6649340 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ZBTB48:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831536CNV Loss17160897
    dgv129n71CNV Loss21882294
    nsv831647CNV Loss17160897
    nsv870646CNV Loss21882294
    nsv871348CNV Gain21882294
    nsv7880CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ZBTB48
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    (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.)
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    OMIM gene information: 165270    OMIM disorders: --

    1 disease for ZBTB48:    
    About MalaCards
    neuroblastoma


    ZBTB48 for disorders           About GeneDecksing


    Export disorders for ZBTB48 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 ZBTB48 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with ZBTB48)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The GLI-Kruppel family of human genes. (PubMed id 2850480)1, 2, 3 Ruppert J.M.... Vogelstein B. (Mol. Cell. Biol. 1988)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Human Kruppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? (PubMed id 9516840)1, 2 Maris J.M.... White P.S. (Eur. J. Cancer 1997)
    4. Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3. (PubMed id 8661141)1, 3 Maris J.M.... White P.S. (Genomics 1996)
    5. A factor that regulates the class II major histocompatibility complex gene DPA is a member of a subfamily of zinc finger proteins that includes a Drosophila developmental control protein. (PubMed id 7969177)1, 2 Sugawara M.... Strominger J.L. (Mol. Cell. Biol. 1994)
    6. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    9. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    10. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3104 HGNC: 4930 AceView: HKR3 Ensembl:ENSG00000204859 euGenes: HUgn3104
    ECgene: ZBTB48 H-InvDB: ZBTB48

    (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)
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    NameDescription
    PharmGKB entry for ZBTB48 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 ZBTB48 gene:
    Search GeneIP for patents involving ZBTB48

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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