Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SOX1 Gene

Aliases for SOX1 Gene

  • SRY-Box 1 2 3 5
  • SRY (Sex Determining Region Y)-Box 1 2
  • SRY-Related HMG-Box Gene 1 2
  • SRY Box 1 2

External Ids for SOX1 Gene

Previous GeneCards Identifiers for SOX1 Gene

  • GC13P111331
  • GC13P107359
  • GC13P111808
  • GC13P110669
  • GC13P111769
  • GC13P112721
  • GC13P093184

Summaries for SOX1 Gene

Entrez Gene Summary for SOX1 Gene

  • This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]

GeneCards Summary for SOX1 Gene

SOX1 (SRY-Box 1) is a Protein Coding gene. Among its related pathways are Wnt Signaling Pathway NetPath and ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and core promoter sequence-specific DNA binding. An important paralog of this gene is SOX3.

UniProtKB/Swiss-Prot for SOX1 Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX1 Gene

Genomics for SOX1 Gene

Regulatory Elements for SOX1 Gene

Enhancers for SOX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F112106 0.5 ENCODE 12.3 +39.1 39123 0.2 RNF2 SUZ12 CBX2 EZH2 SOX1 LINC00404 ENSG00000260385
GH13F112103 0.5 ENCODE 12.3 +36.5 36499 1.4 TEAD4 CBX2 EZH2 SOX1 LINC00404 ENSG00000260385
GH13F112107 0.5 ENCODE 12.3 +38.5 38483 0.2 SMARCA4 RNF2 SUZ12 SOX1 LINC00404 ENSG00000260385
GH13F112074 0.5 FANTOM5 3 +7.3 7253 0.3 CBX8 SUZ12 CBX2 EZH2 SOX1 GC13P112069 ENSG00000260385
GH13F112068 0.8 ENCODE 0.8 -0.8 -778 0.2 TBP DRAP1 SAP130 ZSCAN9 KMT2B CREM THAP11 MIXL1 EZH2 TEAD1 SOX1 ENSG00000200072
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SOX1 on UCSC Golden Path with GeneCards custom track

Promoters for SOX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001787382 301 201 RNF2
ENSR00001787381 -699 601 TBP ELF3 ZFP64 RAD21 ZSCAN9 RARA CREM THAP11 MIXL1 KAT8

Genomic Location for SOX1 Gene

Chromosome:
13
Start:
112,067,599 bp from pter
End:
112,071,706 bp from pter
Size:
4,108 bases
Orientation:
Plus strand

Genomic View for SOX1 Gene

Genes around SOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX1 Gene

Proteins for SOX1 Gene

  • Protein details for SOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00570-SOX1_HUMAN
    Recommended name:
    Transcription factor SOX-1
    Protein Accession:
    O00570
    Secondary Accessions:
    • Q5W0Q1

    Protein attributes for SOX1 Gene

    Size:
    391 amino acids
    Molecular mass:
    39023 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SOX1 Gene

Post-translational modifications for SOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SOX1 (SOX1)
  • Abcam antibodies for SOX1

No data available for DME Specific Peptides for SOX1 Gene

Domains & Families for SOX1 Gene

Gene Families for SOX1 Gene

Protein Domains for SOX1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SOX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00570

UniProtKB/Swiss-Prot:

SOX1_HUMAN :
  • Contains 1 HMG box DNA-binding domain.
Domain:
  • Contains 1 HMG box DNA-binding domain.
genes like me logo Genes that share domains with SOX1: view

Function for SOX1 Gene

Molecular function for SOX1 Gene

GENATLAS Biochemistry:
SRY related HMG box gene 1,38.8kDa,moderately expressed in embryonic brain,involved in neural and lens development,modulator of LINE retroposons promoter activity
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for SOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001046 core promoter sequence-specific DNA binding IDA 20049565
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding NAS 9337405
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 9337405
genes like me logo Genes that share ontologies with SOX1: view
genes like me logo Genes that share phenotypes with SOX1: view

Animal Models for SOX1 Gene

MGI Knock Outs for SOX1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SOX1 Gene

Localization for SOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOX1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
plasma membrane 1
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 9337405
genes like me logo Genes that share ontologies with SOX1: view

Pathways & Interactions for SOX1 Gene

genes like me logo Genes that share pathways with SOX1: view

Interacting Proteins for SOX1 Gene

Gene Ontology (GO) - Biological Process for SOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0002089 lens morphogenesis in camera-type eye IEA --
GO:0006325 chromatin organization NAS 9337405
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 9337405
genes like me logo Genes that share ontologies with SOX1: view

No data available for SIGNOR curated interactions for SOX1 Gene

Transcripts for SOX1 Gene

mRNA/cDNA for SOX1 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(10) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOX1 Gene

SRY (sex determining region Y)-box 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SOX1 Gene

No ASD Table

Relevant External Links for SOX1 Gene

GeneLoc Exon Structure for
SOX1
ECgene alternative splicing isoforms for
SOX1

Expression for SOX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOX1 Gene

This gene is overexpressed in Brain - Hypothalamus (x6.6), Brain - Nucleus accumbens (basal ganglia) (x6.1), Brain - Caudate (basal ganglia) (x5.4), Brain - Amygdala (x5.4), Brain - Putamen (basal ganglia) (x4.3), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for SOX1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SOX1 Gene



Protein tissue co-expression partners for SOX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SOX1 Gene:

SOX1

SOURCE GeneReport for Unigene cluster for SOX1 Gene:

Hs.202526

mRNA Expression by UniProt/SwissProt for SOX1 Gene:

O00570-SOX1_HUMAN
Tissue specificity: Mainly expressed in the developing central nervous system.
genes like me logo Genes that share expression patterns with SOX1: view

Primer Products

Orthologs for SOX1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SOX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SOX1 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100912302 34
  • 95.76 (n)
mouse
(Mus musculus)
Mammalia Sox1 34 16 35
  • 94.29 (n)
oppossum
(Monodelphis domestica)
Mammalia SOX1 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOX1 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOX1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sox1 34
  • 70.48 (n)
zebrafish
(Danio rerio)
Actinopterygii sox1b 35
  • 81 (a)
OneToMany
sox1a 34 35
  • 73.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sox21a 36
  • 88 (a)
Sox21b 36
  • 81 (a)
D 36
  • 80 (a)
SoxN 36 35
  • 79 (a)
worm
(Caenorhabditis elegans)
Secernentea sox-2 35
  • 37 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.7855 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for SOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOX1 Gene

ENSEMBL:
Gene Tree for SOX1 (if available)
TreeFam:
Gene Tree for SOX1 (if available)

Paralogs for SOX1 Gene

(5) SIMAP similar genes for SOX1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SOX1: view

Variants for SOX1 Gene

Sequence variations from dbSNP and Humsavar for SOX1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1056121 -- 112,068,918(-) AGCCA(C/G)GCCGC intron-variant, utr-variant-3-prime
rs111536872 -- 112,069,103(+) TATCA(C/T)CTACG intron-variant, utr-variant-3-prime
rs111734388 -- 112,066,018(+) CAACT(A/G)TTGTT intron-variant, upstream-variant-2KB
rs112305049 -- 112,068,529(+) GCGGC(G/T)CGCAC intron-variant, reference, missense
rs112428421 -- 112,069,435(+) TATCT(C/G)AGCAT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SOX1 Gene

Variant ID Type Subtype PubMed ID
dgv351n67 CNV gain 20364138
dgv352n67 CNV gain 20364138
nsv1069775 CNV deletion 25765185
nsv1112639 CNV deletion 24896259
nsv456128 CNV loss 19166990
nsv563189 CNV loss 21841781
nsv819531 CNV gain 19587683
nsv826807 CNV gain 20364138
nsv826813 CNV gain 20364138
nsv826815 CNV loss 20364138
nsv826816 CNV gain 20364138
nsv832722 CNV loss 17160897

Variation tolerance for SOX1 Gene

Gene Damage Index Score: 8.35; 85.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SOX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX1 Gene

Disorders for SOX1 Gene

Relevant External Links for SOX1

Genetic Association Database (GAD)
SOX1
Human Genome Epidemiology (HuGE) Navigator
SOX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOX1

No disorders were found for SOX1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SOX1 Gene

Publications for SOX1 Gene

  1. Cloning and mapping of the human SOX1: a highly conserved gene expressed in the developing brain. (PMID: 9337405) Malas S. … Episkopou V. (Mamm. Genome 1997) 2 3 4 64
  2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64
  3. CD56 expression in human myeloma cells derived from the neurogenic gene expression: possible role of the SRY-HMG box gene, SOX4. (PMID: 20049565) Iqbal M.S. … Kawano M.M. (Int. J. Hematol. 2010) 3 22 64
  4. SOX antibodies in small-cell lung cancer and Lambert-Eaton myasthenic syndrome: frequency and relation with survival. (PMID: 19667272) Titulaer M.J. … Verschuuren J.J. (J. Clin. Oncol. 2009) 3 22 64
  5. Sox10 Regulates Stem/Progenitor and Mesenchymal Cell States in Mammary Epithelial Cells. (PMID: 26365194) Dravis C. … Wahl G.M. (Cell Rep 2015) 3 64

Products for SOX1 Gene

Sources for SOX1 Gene

Content
Loading form....