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... See more...

Aliases for SOX1 Gene

Aliases for SOX1 Gene

  • SRY-Box Transcription Factor 1 2 3 5
  • SRY (Sex Determining Region Y)-Box 1 2 3
  • Transcription Factor SOX-1 3 4
  • SRY-Related HMG-Box Gene 1 2 3
  • SRY-Box 1 2 3

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 Transcription Factor 1) is a Protein Coding gene. Diseases associated with SOX1 include Lambert-Eaton Myasthenic Syndrome and Cervical Adenocarcinoma. Among its related pathways are ERK Signaling and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and core promoter sequence-specific DNA binding. An important paralog of this gene is SOX3.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for SOX1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX1 Gene

Genomics for SOX1 Gene

GeneHancer (GH) Regulatory Elements for SOX1 Gene

Promoters and enhancers for SOX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J112066 Promoter/Enhancer 1 Ensembl ENCODE 500.7 +0.5 495 2.7 EP300 GABPA ZBTB26 HDAC2 EZH2 SMC3 MXI1 YY1 ZNF335 CBX8 SOX1 ENSG00000260385 SOX1-OT
GH13J112106 Enhancer 0.6 Ensembl ENCODE 12.3 +39.6 39571 0.6 RNF2 SUZ12 EZH2 HNRNPLL LINC00404 SOX1 lnc-SOX1-5 SOX1-OT
GH13J112103 Enhancer 0.5 ENCODE 12.3 +36.9 36949 1.4 TEAD4 TCF12 SIN3A EP300 TBP EZH2 SUZ12 BACH1 RBBP5 lnc-SOX1-5 SOX1 LINC00404 SOX1-OT
GH13J112107 Enhancer 0.5 ENCODE 12.3 +38.9 38933 0.2 TCF12 SMARCA4 RNF2 SUZ12 EGR1 EZH2 LINC00404 SOX1 lnc-SOX1-5 SOX1-OT
GH13J112087 Enhancer 0.2 Ensembl 12.5 +20.2 20152 0.2 SOX1 ENSG00000260385 lnc-SOX1-5 SOX1-OT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOX1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX1

Top Transcription factor binding sites by QIAGEN in the SOX1 gene promoter:
  • AhR
  • Arnt
  • c-Myc
  • C/EBPalpha
  • CHOP-10
  • CREB
  • deltaCREB
  • FOXO4
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for SOX1 Gene

Genomic Locations for SOX1 Gene
chr13:112,067,149-112,071,706
(GRCh38/hg38)
Size:
4,558 bases
Orientation:
Plus strand
chr13:112,721,913-112,726,020
(GRCh37/hg19)
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:

No data available for DME Specific Peptides for SOX1 Gene

Domains & Families for SOX1 Gene

Gene Families for SOX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SOX1 Gene

Suggested Antigen Peptide Sequences for SOX1 Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor SOX-1 (SOX1_HUMAN)
genes like me logo Genes that share domains with SOX1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOX1 Gene

Function for SOX1 Gene

Molecular function for SOX1 Gene

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).
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

Phenotypes From GWAS Catalog for SOX1 Gene

Gene Ontology (GO) - Molecular Function for SOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 20049565
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding NAS 9337405
GO:0003700 DNA-binding transcription factor activity 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:
  • Sox1 Sox1<tm1Vep>
  • Sox1 Sox1<tm2Vep>
  • Sox1 Sox1<tm1.1(tTA)Blel>
  • Sox1 Sox1<tm1Asmi>

Clone 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
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,NAS 9337405
GO:0044798 nuclear transcription factor complex IBA 21873635
genes like me logo Genes that share ontologies with SOX1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SOX1 Gene

Pathways & Interactions for SOX1 Gene

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

Pathways by source 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:0006355 regulation of transcription, DNA-templated NAS 9337405
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with SOX1: view

No data available for SIGNOR curated interactions for SOX1 Gene

Drugs & Compounds for SOX1 Gene

No Compound Related Data Available

Transcripts for SOX1 Gene

mRNA/cDNA for SOX1 Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

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 and MOPED for SOX1 Gene



Protein tissue co-expression partners for SOX1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SOX1 Gene

  • Nervous system(2.6)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with SOX1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX1 Gene

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 31
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100912302 30
  • 95.76 (n)
mouse
(Mus musculus)
Mammalia Sox1 17 31 30
  • 94.29 (n)
oppossum
(Monodelphis domestica)
Mammalia SOX1 31
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOX1 31
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOX1 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sox1 30
  • 70.48 (n)
zebrafish
(Danio rerio)
Actinopterygii sox1b 31
  • 81 (a)
OneToMany
sox1a 31 30
  • 73.62 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sox21a 32
  • 88 (a)
Sox21b 32
  • 81 (a)
D 32
  • 80 (a)
SoxN 31 32
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sox-2 31
  • 37 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.7855 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SOX1: view image

Paralogs for SOX1 Gene

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

  • SOX1_HUMAN
genes like me logo Genes that share paralogs with SOX1: view

Variants for SOX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
712143 Benign: not provided 112,068,036(+) C/T SYNONYMOUS_VARIANT
716996 Benign: not provided 112,068,759(+) G/A SYNONYMOUS_VARIANT
779648 Benign: not provided 112,067,685(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SOX1 Gene

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)

Additional Variant Information for SOX1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SOX1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SOX1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lambert-eaton myasthenic syndrome
  • eaton-lambert syndrome
cervical adenocarcinoma
  • adenocarcinoma cervix uteri
germ cell and embryonal cancer
  • germ cell and embryonal neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search SOX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SOX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SOX1: view

No data available for 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 (Mammalian genome : official journal of the International Mammalian Genome Society 1997) 2 3 4 54
  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 JC (PloS one 2010) 3 41 54
  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 MS … Kawano MM (International journal of hematology 2010) 3 23 54
  4. SOX antibodies in small-cell lung cancer and Lambert-Eaton myasthenic syndrome: frequency and relation with survival. (PMID: 19667272) Titulaer MJ … Verschuuren JJ (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009) 3 23 54
  5. Tumor-suppressor gene SOX1 is a methylation-specific expression gene in cervical adenocarcinoma. (PMID: 31567982) Yuan M … Abulizi G (Medicine 2019) 3 54

Products for SOX1 Gene

Sources for SOX1 Gene