Human Gene SOX1 (ENST00000330949.3_5) from GENCODE V47lift37
  Description: SRY-box transcription factor 1 (from RefSeq NM_005986.3)
Gencode Transcript: ENST00000330949.3_5
Gencode Gene: ENSG00000182968.5_9
Transcript (Including UTRs)
   Position: hg19 chr13:112,721,463-112,726,020 Size: 4,558 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr13:112,721,973-112,723,148 Size: 1,176 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:112,721,463-112,726,020)mRNA (may differ from genome)Protein (391 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SOX1_HUMAN
DESCRIPTION: RecName: Full=Transcription factor SOX-1;
FUNCTION: Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity).
INTERACTION: P40763:STAT3; NbExp=2; IntAct=EBI-2935583, EBI-518675;
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Mainly expressed in the developing central nervous system.
SIMILARITY: Contains 1 HMG box DNA-binding domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.41 RPKM in Brain - Hypothalamus
Total median expression: 17.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -205.10510-0.402 Picture PostScript Text
3' UTR -844.002872-0.294 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009071 - HMG_superfamily
IPR022097 - TF_SOX

Pfam Domains:
PF00505 - HMG (high mobility group) box
PF09011 - HMG-box domain
PF12336 - SOX transcription factor

SCOP Domains:
47095 - HMG-box

ModBase Predicted Comparative 3D Structure on O00570
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  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:0001046 core promoter 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:0001764 neuron migration
GO:0002089 lens morphogenesis in camera-type eye
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007399 nervous system development
GO:0021521 ventral spinal cord interneuron specification
GO:0021879 forebrain neuron differentiation
GO:0021884 forebrain neuron development
GO:0030900 forebrain development
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  JD211267 - Sequence 192291 from Patent EP1572962.
JC506661 - Sequence 29 from Patent EP2733220.
JC737773 - Sequence 29 from Patent WO2014075939.
JC506666 - Sequence 34 from Patent EP2733220.
JC737778 - Sequence 34 from Patent WO2014075939.
JC506674 - Sequence 42 from Patent EP2733220.
JC737786 - Sequence 42 from Patent WO2014075939.
JC506688 - Sequence 56 from Patent EP2733220.
JC737800 - Sequence 56 from Patent WO2014075939.
JD221241 - Sequence 202265 from Patent EP1572962.
JD064699 - Sequence 45723 from Patent EP1572962.
JD423108 - Sequence 404132 from Patent EP1572962.
JD236155 - Sequence 217179 from Patent EP1572962.
JD294923 - Sequence 275947 from Patent EP1572962.
JD545781 - Sequence 526805 from Patent EP1572962.
JD400441 - Sequence 381465 from Patent EP1572962.
JD296787 - Sequence 277811 from Patent EP1572962.
JD133050 - Sequence 114074 from Patent EP1572962.
JD260911 - Sequence 241935 from Patent EP1572962.
JD127048 - Sequence 108072 from Patent EP1572962.
JD397633 - Sequence 378657 from Patent EP1572962.
JD042239 - Sequence 23263 from Patent EP1572962.
JD289823 - Sequence 270847 from Patent EP1572962.
JD469291 - Sequence 450315 from Patent EP1572962.
JD546982 - Sequence 528006 from Patent EP1572962.
JD235741 - Sequence 216765 from Patent EP1572962.
JD364452 - Sequence 345476 from Patent EP1572962.
JD333572 - Sequence 314596 from Patent EP1572962.
JD374211 - Sequence 355235 from Patent EP1572962.
JD318485 - Sequence 299509 from Patent EP1572962.
JD239006 - Sequence 220030 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000330949.1, ENST00000330949.2, NM_005986, O00570, Q5W0Q1, SOX1_HUMAN, uc317tcf.1, uc317tcf.2
UCSC ID: ENST00000330949.3_5
RefSeq Accession: NM_005986.3
Protein: O00570 (aka SOX1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.