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
ID:ZN148_HUMAN 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. SUBCELLULAR LOCATION: Nucleus. 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
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.
ModBase Predicted Comparative 3D Structure on Q9UQR1
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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.
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