Human Gene SOX6 (ENST00000396356.7) from GENCODE V44
Description: Homo sapiens SRY-box transcription factor 6 (SOX6), transcript variant 2, mRNA. (from RefSeq NM_033326) RefSeq Summary (NM_033326): This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]. Gencode Transcript: ENST00000396356.7 Gencode Gene: ENSG00000110693.19 Transcript (Including UTRs) Position: hg38 chr11:15,966,449-16,476,388 Size: 509,940 Total Exon Count: 16 Strand: - Coding Region Position: hg38 chr11:15,972,809-16,341,248 Size: 368,440 Coding Exon Count: 15
ID:SOX6_HUMAN DESCRIPTION: RecName: Full=Transcription factor SOX-6; FUNCTION: Transcriptional activator. Binds specifically to the DNA sequence 5'-AACAAT-3'. Plays a key role in several developmental processes, including neurogenesis and skeleton formation. SUBUNIT: Interacts with DAZAP2 (By similarity). INTERACTION: O15266:SHOX; NbExp=3; IntAct=EBI-3505706, EBI-3505698; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in a wide variety of tissues, most abundantly in skeletal muscle. PTM: Sumoylation inhibits the transcriptional activity. SIMILARITY: Contains 1 HMG box DNA-binding domain. SEQUENCE CAUTION: Sequence=BC037866; Type=Frameshift; Positions=505;
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 P35712
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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:0001078 transcriptional repressor 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 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:0000902 cell morphogenesis GO:0001701 in utero embryonic development GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007275 multicellular organism development GO:0007517 muscle organ development GO:0009791 post-embryonic development GO:0010468 regulation of gene expression GO:0016458 gene silencing GO:0021778 oligodendrocyte cell fate specification GO:0030097 hemopoiesis GO:0030218 erythrocyte differentiation GO:0032332 positive regulation of chondrocyte differentiation GO:0042692 muscle cell differentiation GO:0045165 cell fate commitment 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:0048708 astrocyte differentiation GO:0048709 oligodendrocyte differentiation GO:0048821 erythrocyte development GO:0051216 cartilage development GO:0055007 cardiac muscle cell differentiation GO:0061036 positive regulation of cartilage development GO:0071560 cellular response to transforming growth factor beta stimulus GO:2000726 negative regulation of cardiac muscle cell differentiation GO:2000741 positive regulation of mesenchymal stem cell differentiation
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