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P48431

- SOX2_HUMAN

UniProt

P48431 - SOX2_HUMAN

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Protein

Transcription factor SOX-2

Gene

SOX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi41 – 10969HMG boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. DNA binding Source: UniProtKB
  3. miRNA binding Source: UniProtKB
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  5. sequence-specific DNA binding Source: MGI
  6. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  7. transcription regulatory region DNA binding Source: UniProtKB
  8. transcription regulatory region sequence-specific DNA binding Source: Ensembl

GO - Biological processi

  1. adenohypophysis development Source: Ensembl
  2. cell cycle arrest Source: UniProtKB
  3. cerebral cortex development Source: Ensembl
  4. chromatin organization Source: UniProtKB
  5. detection of mechanical stimulus involved in equilibrioception Source: Ensembl
  6. detection of mechanical stimulus involved in sensory perception of sound Source: Ensembl
  7. diencephalon morphogenesis Source: Ensembl
  8. endodermal cell fate specification Source: MGI
  9. epithelial tube branching involved in lung morphogenesis Source: Ensembl
  10. eye development Source: UniProtKB
  11. forebrain development Source: UniProtKB
  12. forebrain neuron differentiation Source: Ensembl
  13. glial cell fate commitment Source: UniProtKB
  14. inner ear development Source: UniProtKB
  15. inner ear morphogenesis Source: Ensembl
  16. lens induction in camera-type eye Source: Ensembl
  17. lung alveolus development Source: Ensembl
  18. male genitalia development Source: Ensembl
  19. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
  20. negative regulation of epithelial cell proliferation Source: UniProtKB
  21. negative regulation of neuron differentiation Source: UniProtKB
  22. negative regulation of osteoblast differentiation Source: Ensembl
  23. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  24. neuronal stem cell maintenance Source: UniProtKB
  25. neuron fate commitment Source: Ensembl
  26. olfactory placode formation Source: Ensembl
  27. osteoblast differentiation Source: UniProtKB
  28. pigment biosynthetic process Source: Ensembl
  29. pituitary gland development Source: UniProtKB
  30. positive regulation of epithelial cell differentiation Source: Ensembl
  31. positive regulation of MAPK cascade Source: UniProtKB
  32. positive regulation of neuroblast proliferation Source: Ensembl
  33. positive regulation of neuron differentiation Source: Ensembl
  34. positive regulation of Notch signaling pathway Source: Ensembl
  35. positive regulation of transcription, DNA-templated Source: UniProtKB
  36. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  37. regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
  38. regulation of gene expression Source: UniProtKB
  39. regulation of transcription, DNA-templated Source: UniProtKB
  40. response to growth factor Source: UniProtKB
  41. response to retinoic acid Source: Ensembl
  42. response to wounding Source: UniProtKB
  43. retina morphogenesis in camera-type eye Source: Ensembl
  44. somatic stem cell maintenance Source: UniProtKB
  45. tongue development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_200670. POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation.
REACT_200759. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
REACT_200812. Transcriptional regulation of pluripotent stem cells.
SignaLinkiP48431.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-2
Gene namesi
Name:SOX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:11195. SOX2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: UniProtKB
  3. nuclear transcription factor complex Source: Ensembl
  4. nucleus Source: UniProtKB
  5. transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Biotechnological usei

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.1 Publication

Keywords - Diseasei

Microphthalmia

Organism-specific databases

MIMi206900. phenotype.
Orphaneti77298. Anophthalmia/microphthalmia - esophageal atresia.
98938. Colobomatous microphthalmia.
2542. Isolated anophthalmia - microphthalmia.
3157. Septo-optic dysplasia.
PharmGKBiPA36032.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 317317Transcription factor SOX-2PRO_0000048715Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki245 – 245Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei251 – 2511Phosphoserine1 Publication

Post-translational modificationi

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

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiP48431.
PaxDbiP48431.
PRIDEiP48431.

PTM databases

PhosphoSiteiP48431.

Expressioni

Gene expression databases

BgeeiP48431.
CleanExiHS_SOX2.
GenevestigatoriP48431.

Organism-specific databases

HPAiCAB010648.
HPA045725.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
PRKCIP417432EBI-6124081,EBI-286199

Protein-protein interaction databases

BioGridi112540. 343 interactions.
DIPiDIP-59913N.
IntActiP48431. 3 interactions.
STRINGi9606.ENSP00000323588.

Structurei

Secondary structure

1
317
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi47 – 6216Combined sources
Helixi68 – 7912Combined sources
Helixi84 – 10421Combined sources

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1O4XNMR-B39-121[»]
2LE4NMR-A39-118[»]
ProteinModelPortaliP48431.
SMRiP48431. Positions 39-117.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP48431.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi19 – 235Poly-Gly
Compositional biasi27 – 304Poly-Ala

Sequence similaritiesi

Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG321816.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000231647.
HOVERGENiHBG105663.
InParanoidiP48431.
KOiK16796.
OMAiMSALQYN.
OrthoDBiEOG7TMZVP.
PhylomeDBiP48431.
TreeFamiTF351735.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR022097. TF_SOX.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF12336. SOXp. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P48431-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MYNMMETELK PPGPQQTSGG GGGNSTAAAA GGNQKNSPDR VKRPMNAFMV
60 70 80 90 100
WSRGQRRKMA QENPKMHNSE ISKRLGAEWK LLSETEKRPF IDEAKRLRAL
110 120 130 140 150
HMKEHPDYKY RPRRKTKTLM KKDKYTLPGG LLAPGGNSMA SGVGVGAGLG
160 170 180 190 200
AGVNQRMDSY AHMNGWSNGS YSMMQDQLGY PQHPGLNAHG AAQMQPMHRY
210 220 230 240 250
DVSALQYNSM TSSQTYMNGS PTYSMSYSQQ GTPGMALGSM GSVVKSEASS
260 270 280 290 300
SPPVVTSSSH SRAPCQAGDL RDMISMYLPG AEVPEPAAPS RLHMSQHYQS
310
GPVPGTAING TLPLSHM
Length:317
Mass (Da):34,310
Last modified:February 1, 1996 - v1
Checksum:iEFCCAFE3E3A2B67B
GO

Sequence cautioni

The sequence AAA35997.1 differs from that shown. Reason: Erroneous initiation.
The sequence CAA83435.1 differs from that shown. Reason: Erroneous initiation.

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z31560 mRNA. Translation: CAA83435.1. Different initiation.
L07335 mRNA. Translation: AAA35997.1. Different initiation.
BC013923 mRNA. Translation: AAH13923.1.
CCDSiCCDS3239.1.
RefSeqiNP_003097.1. NM_003106.3.
UniGeneiHs.518438.
Hs.732963.

Genome annotation databases

EnsembliENST00000325404; ENSP00000323588; ENSG00000181449.
GeneIDi6657.
KEGGihsa:6657.
UCSCiuc003fkx.3. human.

Polymorphism databases

DMDMi1351091.

Cross-referencesi

Web resourcesi

Wikipedia

Sox2 entry

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z31560 mRNA. Translation: CAA83435.1 . Different initiation.
L07335 mRNA. Translation: AAA35997.1 . Different initiation.
BC013923 mRNA. Translation: AAH13923.1 .
CCDSi CCDS3239.1.
RefSeqi NP_003097.1. NM_003106.3.
UniGenei Hs.518438.
Hs.732963.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1O4X NMR - B 39-121 [» ]
2LE4 NMR - A 39-118 [» ]
ProteinModelPortali P48431.
SMRi P48431. Positions 39-117.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112540. 343 interactions.
DIPi DIP-59913N.
IntActi P48431. 3 interactions.
STRINGi 9606.ENSP00000323588.

PTM databases

PhosphoSitei P48431.

Polymorphism databases

DMDMi 1351091.

Proteomic databases

MaxQBi P48431.
PaxDbi P48431.
PRIDEi P48431.

Protocols and materials databases

DNASUi 6657.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000325404 ; ENSP00000323588 ; ENSG00000181449 .
GeneIDi 6657.
KEGGi hsa:6657.
UCSCi uc003fkx.3. human.

Organism-specific databases

CTDi 6657.
GeneCardsi GC03P181429.
GeneReviewsi SOX2.
HGNCi HGNC:11195. SOX2.
HPAi CAB010648.
HPA045725.
MIMi 184429. gene.
206900. phenotype.
neXtProti NX_P48431.
Orphaneti 77298. Anophthalmia/microphthalmia - esophageal atresia.
98938. Colobomatous microphthalmia.
2542. Isolated anophthalmia - microphthalmia.
3157. Septo-optic dysplasia.
PharmGKBi PA36032.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG321816.
GeneTreei ENSGT00760000118988.
HOGENOMi HOG000231647.
HOVERGENi HBG105663.
InParanoidi P48431.
KOi K16796.
OMAi MSALQYN.
OrthoDBi EOG7TMZVP.
PhylomeDBi P48431.
TreeFami TF351735.

Enzyme and pathway databases

Reactomei REACT_200670. POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation.
REACT_200759. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
REACT_200812. Transcriptional regulation of pluripotent stem cells.
SignaLinki P48431.

Miscellaneous databases

EvolutionaryTracei P48431.
GeneWikii SOX2.
GenomeRNAii 6657.
NextBioi 25951.
PROi P48431.
SOURCEi Search...

Gene expression databases

Bgeei P48431.
CleanExi HS_SOX2.
Genevestigatori P48431.

Family and domain databases

Gene3Di 1.10.30.10. 1 hit.
InterProi IPR009071. HMG_box_dom.
IPR022097. TF_SOX.
[Graphical view ]
Pfami PF00505. HMG_box. 1 hit.
PF12336. SOXp. 1 hit.
[Graphical view ]
SMARTi SM00398. HMG. 1 hit.
[Graphical view ]
SUPFAMi SSF47095. SSF47095. 1 hit.
PROSITEi PS50118. HMG_BOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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].

Entry informationi

Entry nameiSOX2_HUMAN
AccessioniPrimary (citable) accession number: P48431
Secondary accession number(s): Q14537
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: October 29, 2014
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3