Human Gene ZNF148 (uc003ehx.4) Description and Page Index
  Description: Homo sapiens zinc finger protein 148 (ZNF148), mRNA.
RefSeq Summary (NM_021964): The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017].
Transcript (Including UTRs)
   Position: hg19 chr3:124,944,513-125,094,198 Size: 149,686 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr3:124,951,185-125,032,484 Size: 81,300 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr3:124,944,513-125,094,198)mRNA (may differ from genome)Protein (794 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Zinc finger protein 148; AltName: Full=Transcription factor ZBP-89; AltName: Full=Zinc finger DNA-binding protein 89;
FUNCTION: Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes.
SUBUNIT: Interacts with HNRPDL.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 4 C2H2-type zinc fingers.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ZNF148
CDC HuGE Published Literature: ZNF148

-  MalaCards Disease Associations
  MalaCards Gene Search: ZNF148
Diseases sorted by gene-association score: global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies* (910), split hand-foot malformation 1 (2), colorectal cancer (1)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.69 RPKM in Thyroid
Total median expression: 188.28 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -200.27486-0.412 Picture PostScript Text
3' UTR -1613.176672-0.242 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
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

SCOP Domains:
48695 - Multiheme cytochromes
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q9UQR1
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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006968 cellular defense response
GO:0007276 gamete generation
GO:0010629 negative regulation of gene expression
GO:0021762 substantia nigra development
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0065003 macromolecular complex assembly

Cellular Component:
GO:0005634 nucleus
GO:0005794 Golgi apparatus

-  Descriptions from all associated GenBank mRNAs
  CR749632 - Homo sapiens mRNA; cDNA DKFZp686L18248 (from clone DKFZp686L18248).
BC018971 - Homo sapiens zinc finger protein 148, mRNA (cDNA clone IMAGE:4336243), complete cds.
AF432210 - Homo sapiens CLL-associated antigen KW-10 mRNA, complete cds.
AJ236885 - Homo sapiens mRNA for ZBP-89 protein.
BC128582 - Homo sapiens cDNA clone IMAGE:40128561, containing frame-shift errors.
AF039019 - Homo sapiens zinc finger DNA binding protein 89 kDa (ZBP-89) mRNA, complete cds.
BC050260 - Homo sapiens zinc finger protein 148, mRNA (cDNA clone MGC:51834 IMAGE:4423572), complete cds.
AK314203 - Homo sapiens cDNA, FLJ94931, highly similar to Homo sapiens zinc finger protein 148 (pHZ-52) (ZNF148), mRNA.
AL833616 - Homo sapiens mRNA; cDNA DKFZp686D0773 (from clone DKFZp686D0773).
L04282 - Human CACCC box-binding protein mRNA, complete cds.
BC035591 - Homo sapiens zinc finger protein 148, mRNA (cDNA clone IMAGE:5575795), partial cds.
BC016316 - Homo sapiens cDNA clone IMAGE:3827723, partial cds.
LF206796 - JP 2014500723-A/14299: Polycomb-Associated Non-Coding RNAs.
LF358033 - JP 2014500723-A/165536: Polycomb-Associated Non-Coding RNAs.
KJ901842 - Synthetic construct Homo sapiens clone ccsbBroadEn_11236 ZNF148 gene, encodes complete protein.
AB527694 - Synthetic construct DNA, clone: pF1KB6279, Homo sapiens ZNF148 gene for zinc finger protein 148, without stop codon, in Flexi system.
U09851 - Human zinc finger protein (ZNF148) mRNA, partial cds.
AK310654 - Homo sapiens cDNA, FLJ17696.
MA442373 - JP 2018138019-A/14299: Polycomb-Associated Non-Coding RNAs.
MA593610 - JP 2018138019-A/165536: Polycomb-Associated Non-Coding RNAs.
JD150560 - Sequence 131584 from Patent EP1572962.
JD218926 - Sequence 199950 from Patent EP1572962.
JD109147 - Sequence 90171 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DN27, NM_021964, NP_068799, O00389, O43591, Q58EY5, Q9UQR1, ZBP89, ZN148_HUMAN
UCSC ID: uc003ehx.4
RefSeq Accession: NM_021964
Protein: Q9UQR1 (aka ZN148_HUMAN or Z148_HUMAN)
CCDS: CCDS3031.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_021964.2
exon count: 9CDS single in 3' UTR: no RNA size: 9573
ORF size: 2385CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4701.50frame shift in genome: no % Coverage: 99.69
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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