Human Gene ELF1 (uc001uxs.3) Description and Page Index
Description: Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA. RefSeq Summary (NM_172373): This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]. Transcript (Including UTRs) Position: hg19 chr13:41,506,055-41,593,508 Size: 87,454 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr13:41,507,561-41,556,190 Size: 48,630 Coding Exon Count: 8
ID:ELF1_HUMAN DESCRIPTION: RecName: Full=ETS-related transcription factor Elf-1; AltName: Full=E74-like factor 1; FUNCTION: Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer. SUBUNIT: Binds to the underphosphorylated form of RB. May interact with other transcription factors in order to regulate specific genes. Interacts with RUNX1. INTERACTION: P31276:HOXC13; NbExp=3; IntAct=EBI-765526, EBI-2293590; P08047:SP1; NbExp=2; IntAct=EBI-765526, EBI-298336; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: In fetal tissues, it is highly expressed in heart, lung liver and kidney, and weakly expressed in brain. In adult, it is highly expressed in pancreas, spleen, thymus and peripheral blood leukocytes, expressed at moderate levels in heart, placenta, lung, liver, skeletal muscle, kidney, prostate, ovary, small intestine and colon, and weakly expressed in brain and testis. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. SIMILARITY: Belongs to the ETS family. SIMILARITY: Contains 1 ETS DNA-binding domain.
Genetic Association Studies of Complex Diseases and Disorders
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 P32519
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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: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:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0001817 regulation of cytokine production GO:0001959 regulation of cytokine-mediated signaling pathway GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0030154 cell differentiation GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0050855 regulation of B cell receptor signaling pathway GO:0050860 negative regulation of T cell receptor signaling pathway