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P48431 (SOX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 137. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor SOX-2
Gene names
Name:SOX2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length317 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 By similarity. Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal By similarity. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation By similarity. Ref.5

Subunit structure

Interacts with ZSCAN10 By similarity. Interacts with SOX3 and FGFR1 By similarity.

Subcellular location

Nucleus.

Post-translational modification

Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation By similarity.

Involvement in disease

Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900]: A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Biotechnological use

POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes. Ref.5

Sequence similarities

Contains 1 HMG box DNA-binding domain.

Sequence caution

The sequence AAA35997.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAA83435.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   DiseaseMicrophthalmia
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
   PTMIsopeptide bond
Phosphoprotein
Ubl conjugation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadenohypophysis development

Inferred from electronic annotation. Source: Ensembl

cell cycle arrest

Inferred from direct assay PubMed 18268498. Source: UniProtKB

cerebral cortex development

Inferred from electronic annotation. Source: Ensembl

chromatin organization

Non-traceable author statement Ref.1. Source: UniProtKB

detection of mechanical stimulus involved in equilibrioception

Inferred from electronic annotation. Source: Ensembl

detection of mechanical stimulus involved in sensory perception of sound

Inferred from electronic annotation. Source: Ensembl

diencephalon morphogenesis

Inferred from electronic annotation. Source: Ensembl

endodermal cell fate specification

Inferred from direct assay PubMed 21245162. Source: MGI

epithelial tube branching involved in lung morphogenesis

Inferred from electronic annotation. Source: Ensembl

eye development

Inferred from expression pattern PubMed 18285410. Source: UniProtKB

forebrain development

Inferred from expression pattern PubMed 18285410. Source: UniProtKB

forebrain neuron differentiation

Inferred from electronic annotation. Source: Ensembl

glial cell fate commitment

Non-traceable author statement PubMed 17291498. Source: UniProtKB

inner ear development

Inferred from expression pattern PubMed 18407919. Source: UniProtKB

inner ear morphogenesis

Inferred from electronic annotation. Source: Ensembl

lens induction in camera-type eye

Inferred from electronic annotation. Source: Ensembl

lung alveolus development

Inferred from electronic annotation. Source: Ensembl

male genitalia development

Inferred from electronic annotation. Source: Ensembl

negative regulation of canonical Wnt signaling pathway

Inferred from direct assay PubMed 18285410. Source: UniProtKB

negative regulation of epithelial cell proliferation

Inferred from direct assay PubMed 18268498. Source: UniProtKB

negative regulation of neuron differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of osteoblast differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: UniProtKB

neuron fate commitment

Inferred from electronic annotation. Source: Ensembl

neuronal stem cell maintenance

Inferred from sequence or structural similarity. Source: UniProtKB

olfactory placode formation

Inferred from electronic annotation. Source: Ensembl

osteoblast differentiation

Inferred from direct assay PubMed 18187129. Source: UniProtKB

pigment biosynthetic process

Inferred from electronic annotation. Source: Ensembl

pituitary gland development

Inferred from expression pattern PubMed 18285410. Source: UniProtKB

positive regulation of MAPK cascade

Inferred from direct assay PubMed 18187129. Source: UniProtKB

positive regulation of Notch signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of epithelial cell differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of neuroblast proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 18027866. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 18407919. Source: UniProtKB

regulation of cysteine-type endopeptidase activity involved in apoptotic process

Inferred from direct assay PubMed 18268498. Source: UniProtKB

regulation of gene expression

Inferred from mutant phenotype PubMed 18388306. Source: UniProtKB

regulation of transcription, DNA-templated

Non-traceable author statement Ref.1. Source: UniProtKB

response to growth factor

Inferred from direct assay PubMed 18187129. Source: UniProtKB

response to retinoic acid

Inferred from electronic annotation. Source: Ensembl

response to wounding

Inferred from expression pattern PubMed 17982423. Source: UniProtKB

retina morphogenesis in camera-type eye

Inferred from electronic annotation. Source: Ensembl

somatic stem cell maintenance

Inferred from direct assay PubMed 19409607. Source: UniProtKB

tongue development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 18027866. Source: UniProtKB

cytosol

Inferred from direct assay PubMed 18000303. Source: UniProtKB

nucleus

Inferred from direct assay PubMed 17291498PubMed 18027866PubMed 18285410. Source: UniProtKB

transcription factor complex

Traceable author statement PubMed 19736317. Source: BHF-UCL

   Molecular_functionDNA binding

Inferred from direct assay PubMed 18285410PubMed 18407919PubMed 19427902. Source: UniProtKB

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

chromatin binding

Inferred from electronic annotation. Source: Ensembl

miRNA binding

Inferred from direct assay PubMed 18710938. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 18456656. Source: UniProtKB

sequence-specific DNA binding

Inferred from direct assay PubMed 20713518. Source: MGI

sequence-specific DNA binding transcription factor activity

Inferred from direct assay PubMed 18027866. Source: UniProtKB

transcription regulatory region DNA binding

Inferred from direct assay PubMed 18407919. Source: UniProtKB

transcription regulatory region sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PRKCIP417432EBI-6124081,EBI-286199

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 317317Transcription factor SOX-2
PRO_0000048715

Regions

DNA binding41 – 10969HMG box
Compositional bias19 – 235Poly-Gly
Compositional bias27 – 304Poly-Ala

Amino acid modifications

Modified residue2511Phosphoserine Ref.6
Cross-link245Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity

Secondary structure

....... 317
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P48431 [UniParc].

Last modified February 1, 1996. Version 1.
Checksum: EFCCAFE3E3A2B67B

FASTA31734,310
        10         20         30         40         50         60 
MYNMMETELK PPGPQQTSGG GGGNSTAAAA GGNQKNSPDR VKRPMNAFMV WSRGQRRKMA 

        70         80         90        100        110        120 
QENPKMHNSE ISKRLGAEWK LLSETEKRPF IDEAKRLRAL HMKEHPDYKY RPRRKTKTLM 

       130        140        150        160        170        180 
KKDKYTLPGG LLAPGGNSMA SGVGVGAGLG AGVNQRMDSY AHMNGWSNGS YSMMQDQLGY 

       190        200        210        220        230        240 
PQHPGLNAHG AAQMQPMHRY DVSALQYNSM TSSQTYMNGS PTYSMSYSQQ GTPGMALGSM 

       250        260        270        280        290        300 
GSVVKSEASS SPPVVTSSSH SRAPCQAGDL RDMISMYLPG AEVPEPAAPS RLHMSQHYQS 

       310 
GPVPGTAING TLPLSHM 

« Hide

References

« Hide 'large scale' references
[1]"The cDNA sequence and chromosomal location of the human SOX2 gene."
Stevanovic M., Zuffardi O., Collignon J., Lovell-Badge R., Goodfellow P.
Mamm. Genome 5:640-642(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Fetal brain.
[2]Sadler L.A., Badzioch M.D., Wagner M., Graves K.A., Swaroop A., Yang-Feng T.L., Zheng K., Daiger S.P.
Submitted (DEC-1992) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Retina.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lung.
[4]"Mutations in SOX2 cause anophthalmia."
Fantes J., Ragge N.K., Lynch S.-A., McGill N.I., Collin J.R.O., Howard-Peebles P.N., Hayward C., Vivian A.J., Williamson K., van Heyningen V., FitzPatrick D.R.
Nat. Genet. 33:461-463(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MCOPS3.
[5]"Induction of pluripotent stem cells from adult human fibroblasts by defined factors."
Takahashi K., Tanabe K., Ohnuki M., Narita M., Ichisaka T., Tomoda K., Yamanaka S.
Cell 131:861-872(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: BIOTECHNOLOGY, FUNCTION.
[6]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-251, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Z31560 mRNA. Translation: CAA83435.1. Different initiation.
L07335 mRNA. Translation: AAA35997.1. Different initiation.
BC013923 mRNA. Translation: AAH13923.1.
CCDSCCDS3239.1.
RefSeqNP_003097.1. NM_003106.3.
UniGeneHs.518438.
Hs.732963.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1O4XNMR-B39-121[»]
2LE4NMR-A39-118[»]
ProteinModelPortalP48431.
SMRP48431. Positions 39-117.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112540. 327 interactions.
DIPDIP-59913N.
IntActP48431. 1 interaction.
STRING9606.ENSP00000323588.

PTM databases

PhosphoSiteP48431.

Polymorphism databases

DMDM1351091.

Proteomic databases

MaxQBP48431.
PaxDbP48431.
PRIDEP48431.

Protocols and materials databases

DNASU6657.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325404; ENSP00000323588; ENSG00000181449.
ENST00000431565; ENSP00000439111; ENSG00000181449.
GeneID6657.
KEGGhsa:6657.
UCSCuc003fkx.3. human.

Organism-specific databases

CTD6657.
GeneCardsGC03P181429.
GeneReviewsSOX2.
HGNCHGNC:11195. SOX2.
HPACAB010648.
HPA045725.
MIM184429. gene.
206900. phenotype.
neXtProtNX_P48431.
Orphanet77298. Anophthalmia/microphthalmia - esophageal atresia.
98938. Colobomatous microphthalmia.
2542. Isolated anophthalmia - microphthalmia.
3157. Septo-optic dysplasia.
PharmGKBPA36032.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG321816.
HOGENOMHOG000231647.
HOVERGENHBG105663.
InParanoidP48431.
KOK16796.
OMAMSALQYN.
OrthoDBEOG7TMZVP.
PhylomeDBP48431.
TreeFamTF351735.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
SignaLinkP48431.

Gene expression databases

BgeeP48431.
CleanExHS_SOX2.
GenevestigatorP48431.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
InterProIPR009071. HMG_box_dom.
IPR022097. TF_SOX.
[Graphical view]
PfamPF00505. HMG_box. 1 hit.
PF12336. SOXp. 1 hit.
[Graphical view]
SMARTSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
PROSITEPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP48431.
GeneWikiSOX2.
GenomeRNAi6657.
NextBio25951.
PROP48431.
SOURCESearch...

Entry information

Entry nameSOX2_HUMAN
AccessionPrimary (citable) accession number: P48431
Secondary accession number(s): Q14537
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: July 9, 2014
This is version 137 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM