Description: Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA. RefSeq Summary (NM_004235): This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Transcript (Including UTRs) Position: hg19 chr9:110,247,133-110,252,047 Size: 4,915 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr9:110,248,032-110,251,309 Size: 3,278 Coding Exon Count: 3
ID:KLF4_HUMAN DESCRIPTION: RecName: Full=Krueppel-like factor 4; AltName: Full=Epithelial zinc finger protein EZF; AltName: Full=Gut-enriched krueppel-like factor; FUNCTION: Transcription factor; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining embryonic stem cells, and in preventing their differentiation. Required for establishing the barrier function of the skin and for postnatal maturation and maintenance of the ocular surface. Involved in the differentiation of epithelial cells and may also function in skeletal and kidney development. Contributes to the down-regulation of p53/TP53 transcription. SUBUNIT: Interacts with POU5F1/OCT4 and SOX2 (By similarity). Interacts with MUC1 (via the C-terminal domain). SUBCELLULAR LOCATION: Nucleus. DOMAIN: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. BIOTECHNOLOGY: POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes. SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family. SIMILARITY: Contains 3 C2H2-type zinc fingers. SEQUENCE CAUTION: Sequence=AAB48399.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAC03462.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAD42165.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH29923.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH30811.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=ABG25917.1; Type=Erroneous gene model prediction; Sequence=BAG36271.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW59020.1; Type=Erroneous gene model prediction; Sequence=EAW59021.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/KLF4ID44316ch9q31.html"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/klf4/";
Electrocardiography Christopher Newton-Cheh et al. BMC medical genetics 2007, Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study., BMC medical genetics.
[PubMed 17903306]
In the community-based Framingham Heart Study none of the ECG and HRV results individually attained genomewide significance. However, the presence of bona fide QT-associated SNPs among the top 117 results for QT duration supports the importance of efforts to validate top results from the reported scans. Finding genetic variants associated with ECG and HRV quantitative traits may identify novel genes and pathways implicated in arrhythmogenesis and allow for improved recognition of individuals at high risk for arrhythmias in the general population.
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 O43474
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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.