ZBTB48 Gene
protein-coding GIFtS: 47
GCID: GC01P006640
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zinc finger and BTB domain containing 48(Previous name: GLI-Kruppel family member HKR3 )
(Previous symbol: HKR3)
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Aliases
for ZBTB48 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Zinc Finger And BTB Domain Containing 481 2 | | Zinc Finger Protein 8552 3 | | HKR31 2 3 5 | | Pp99641 | | ZNF8551 2 3 | | Zinc Finger And BTB Domain-Containing Protein 482 | | GLI-Kruppel Family Member HKR31 2 | | Protein HKR33 | | Krueppel-Related Zinc Finger Protein 32 3 | | |
Export aliases for ZBTB48 gene to outside databasesPrevious GC identifers: GC01P006562 GC01P005788 |
Summaries
for ZBTB48 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074Function: Binds to and regulates the J and/or S elements in MHC II promoter
|
Genomic Views
for ZBTB48 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_021937.19
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for ZBTB48
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 1p36.3ZBTB48 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P006640: view genomic region
(about GC identifiers)
Start:
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6,640,061 bp from pter |
End:
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6,649,340 bp from pter |
Size:
|
9,280 bases |
Orientation:
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plus strand |
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Proteins
for ZBTB48 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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
Subcellular location: Nucleus
1 PDB 3D structure from  and Proteopedia  for ZBTB48:3B84 (3D)
Secondary accessions: Q5SY19Explore the universe of human proteins at neXtProt for ZBTB48: NX_P10074
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P10074
ZBTB48 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_005332.1
ENSEMBL proteins: ENSP00000313416 ENSP00000416054 ENSP00000366902 ENSP00000466390 ENSP00000467104
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
ZBTB48 for ontologies About GeneDecksing
ZBTB48 Antibody Products:
Assay Products for ZBTB48: |
Protein
Domains /
Families
for ZBTB48 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ZBTB48 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry P10074ProtoNet protein and cluster: P10074 2 Blocks protein families: IPB000210 BTB/POZ domain IPB007086 C2H2-type zinc finger signature
UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074Similarity: Belongs to the krueppel C2H2-type zinc-finger protein familySimilarity: Contains 1 BTB (POZ) domainSimilarity: Contains 11 C2H2-type zinc fingers |
Function
for ZBTB48 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074Function: Binds to and regulates the J and/or S elements in MHC II promoter
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ZBTB48 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ZBTB48 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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| |  | GenScript: all cDNA clones in your preferred vector: ZBTB48 (NM_005341) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ZBTB48 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZBTB48 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZBTB48 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ZBTB48 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for ZBTB48:
|
Pathways & Interactions
for ZBTB48 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZBTB48
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
5/19 Interacting proteins for ZBTB48 (P100742, 3 ENSP000003669024) via UniProtKB, MINT, STRING, and/or I2D (see all 19)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
-- | -- |
ZBTB48 for ontologies About GeneDecksing
|
Drugs & Compounds
for ZBTB48 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ZBTB48
Search CenterWatch for drugs/clinical trials and news about ZBTB48 / ZBT48
|
Transcripts
for ZBTB48 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ZBTB48 gene: NM_005341.2 Unigene Cluster for ZBTB48: Zinc finger and BTB domain containing 48 Hs.502330 [show with all ESTs]Unigene Representative Sequence: BX6483958 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ZBTB48 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ZBTB48 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ZBTB48 (NM_005341) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ZBTB48 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZBTB48 |
Additional cDNA 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 24/89 AceView cDNA sequences (see all 89): AI369007 AI656996 BX487258 BG749003 BX648395 NM_005341 CD358885 CA748466 AL043234 T29307 AJ711358 BC013573 CA306809 AW014834 BX336991 BF033273 BM827114 AL043176 BU622640 BX351700 L16896 CB050756 CA748465 BQ053233
GeneLoc Exon Structure
|
Expression
for ZBTB48 gene
(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
| ZBTB48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGATCCACG
About this image
See ZBTB48 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZBTB48
SOURCE GeneReport for Unigene cluster: Hs.502330
UniProtKB/Swiss-Prot: ZBT48_HUMAN, P10074Tissue specificity: Detected in adrenal gland and neuroblastoma
SABiosciences Custom PCR Arrays for ZBTB48
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ZBTB48
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ZBTB48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZBTB48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZBTB48 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZBTB48 |
Orthologs
for ZBTB48 gene
(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 animals.
Orthologs for ZBTB48 gene from 6/13 species (see all 13) About this table
ENSEMBL Gene Tree for ZBTB48 (if available)
TreeFam Gene Tree for ZBTB48 (if available) |
Paralogs
for ZBTB48 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ZBTB48 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ZBTB48 (6640061 - 6649340 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ZBTB48
2 CNVs: 4202 4201 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZBTB48 |
|
Disorders
/ Diseases
for ZBTB48 gene
(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.)
About This Section
|
ZBTB48 for disorders About GeneDecksing
OMIM gene information: 165270
OMIM disorders: --
1  disease for ZBTB48: About MalaCardsneuroblastoma
Export disorders for ZBTB48 gene to outside databases
|
Publications
for ZBTB48 gene (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 ZBTB48 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with ZBTB48) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The GLI-Kruppel family of human genes. (PubMed id 2850480)1, 2, 3 Ruppert J.M.... Vogelstein B. (1988)
- 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. (2004)
- 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. (1997)
- Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3. (PubMed id 8661141)1, 3 Maris J.M.... White P.S. (1996)
- 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. (1994)
- A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
- Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
|
External Searches for ZBTB48 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ZBTB48 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ZBTB48 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ZBTB48 gene(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
|
| Name | Description |
| PharmGKB entry for ZBTB48 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for ZBTB48 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | Browse OriGene shRNA RFPs | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ZBTB48 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ZBTB48 | | | OriGene Protein Over-expression Lysate for ZBTB48 | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for ZBTB48 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ZBTB48 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ZBTB48 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | Search Tocris compounds for ZBTB48 |
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 | | | ZBTB48 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZBTB48 |
|  |  |  | | | | Search ThermoFisher Antibodies for ZBTB48 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZBTB48 |
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