Human Gene ZBTB48 (ENST00000377674.9) from GENCODE V44
  Description: Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), transcript variant 1, mRNA. (from RefSeq NM_005341)
Gencode Transcript: ENST00000377674.9
Gencode Gene: ENSG00000204859.13
Transcript (Including UTRs)
   Position: hg38 chr1:6,579,994-6,589,280 Size: 9,287 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr1:6,580,610-6,589,212 Size: 8,603 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:6,579,994-6,589,280)mRNA (may differ from genome)Protein (688 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Zinc finger and BTB domain-containing protein 48; AltName: Full=Krueppel-related zinc finger protein 3; AltName: Full=Protein HKR3; AltName: Full=Zinc finger protein 855;
FUNCTION: Binds to and regulates the J and/or S elements in MHC II promoter.
TISSUE SPECIFICITY: Detected in adrenal gland and neuroblastoma.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 11 C2H2-type zinc fingers.

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: ZBTB48
Diseases sorted by gene-association score: neuroblastoma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.42 RPKM in Testis
Total median expression: 545.68 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -100.10212-0.472 Picture PostScript Text
3' UTR -16.1068-0.237 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00651 - BTB/POZ domain
PF00096 - Zinc finger, C2H2 type

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3B84 - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on P10074
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003691 double-stranded telomeric DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0010833 telomere maintenance via telomere lengthening
GO:0045893 positive regulation of transcription, DNA-templated

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  AK290156 - Homo sapiens cDNA FLJ77924 complete cds, highly similar to Homo sapiens GLI-Kruppel family member HKR3, mRNA.
LF206744 - JP 2014500723-A/14247: Polycomb-Associated Non-Coding RNAs.
MA442321 - JP 2018138019-A/14247: Polycomb-Associated Non-Coding RNAs.
AK312786 - Homo sapiens cDNA, FLJ93203, highly similar to Homo sapiens GLI-Kruppel family member HKR3 (HKR3), mRNA.
L16896 - Human zinc finger protein mRNA, complete cds.
JD489609 - Sequence 470633 from Patent EP1572962.
JD496686 - Sequence 477710 from Patent EP1572962.
JD485536 - Sequence 466560 from Patent EP1572962.
JD484630 - Sequence 465654 from Patent EP1572962.
JD216428 - Sequence 197452 from Patent EP1572962.
JD216356 - Sequence 197380 from Patent EP1572962.
JD203415 - Sequence 184439 from Patent EP1572962.
JD173054 - Sequence 154078 from Patent EP1572962.
BC013573 - Homo sapiens zinc finger and BTB domain containing 48, mRNA (cDNA clone MGC:9174 IMAGE:3906038), complete cds.
JD290782 - Sequence 271806 from Patent EP1572962.
DQ894173 - Synthetic construct Homo sapiens clone IMAGE:100008633; FLH168348.01L; RZPDo839F0991D GLI-Kruppel family member HKR3 (HKR3) gene, encodes complete protein.
DQ894174 - Synthetic construct Homo sapiens clone IMAGE:100008634; FLH263652.01L; RZPDo839F1091D GLI-Kruppel family member HKR3 (HKR3) gene, encodes complete protein.
KJ891345 - Synthetic construct Homo sapiens clone ccsbBroadEn_00739 ZBTB48 gene, encodes complete protein.
CU680618 - Synthetic construct Homo sapiens gateway clone IMAGE:100017456 5' read ZBTB48 mRNA.
LF357486 - JP 2014500723-A/164989: Polycomb-Associated Non-Coding RNAs.
MA593063 - JP 2018138019-A/164989: Polycomb-Associated Non-Coding RNAs.
BX648395 - Homo sapiens mRNA; cDNA DKFZp686L20213 (from clone DKFZp686L20213).
AF318381 - Homo sapiens pp9964 mRNA, complete cds.
LF357484 - JP 2014500723-A/164987: Polycomb-Associated Non-Coding RNAs.
MA593061 - JP 2018138019-A/164987: Polycomb-Associated Non-Coding RNAs.
LF357483 - JP 2014500723-A/164986: Polycomb-Associated Non-Coding RNAs.
MA593060 - JP 2018138019-A/164986: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000377674.1, ENST00000377674.2, ENST00000377674.3, ENST00000377674.4, ENST00000377674.5, ENST00000377674.6, ENST00000377674.7, ENST00000377674.8, HKR3, NM_005341, P10074, Q5SY19, uc001anx.1, uc001anx.2, uc001anx.3, uc001anx.4, uc001anx.5, uc001anx.6, ZBT48_HUMAN, ZNF855
UCSC ID: ENST00000377674.9
RefSeq Accession: NM_005341
Protein: P10074 (aka ZBT48_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.