ID:SOX18_HUMAN DESCRIPTION: RecName: Full=Transcription factor SOX-18; FUNCTION: Binds to the consensus sequence 5'-AACAAAG-3' and is able to trans-activate transcription via this site (By similarity). SUBCELLULAR LOCATION: Nucleus (Potential). DISEASE: Defects in SOX18 are the cause of hypotrichosis- lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]. SIMILARITY: Contains 1 HMG box DNA-binding domain. SIMILARITY: Contains 1 Sox C-terminal domain. CAUTION: Was originally (PubMed:1614875) termed SOX-8. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOX18";
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 P35713
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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:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding GO:0046982 protein heterodimerization activity
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001525 angiogenesis GO:0001568 blood vessel development GO:0001570 vasculogenesis GO:0001701 in utero embryonic development GO:0001942 hair follicle development GO:0001944 vasculature development GO:0001945 lymph vessel development GO:0001946 lymphangiogenesis GO:0001947 heart looping GO:0003151 outflow tract morphogenesis GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007507 heart development GO:0022405 hair cycle process GO:0035050 embryonic heart tube development GO:0042789 mRNA transcription from RNA polymerase II promoter GO:0043534 blood vessel endothelial cell migration GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048469 cell maturation GO:0048866 stem cell fate specification GO:0060214 endocardium formation GO:0060836 lymphatic endothelial cell differentiation GO:0060956 endocardial cell differentiation GO:0061028 establishment of endothelial barrier GO:0072091 regulation of stem cell proliferation
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
