UniProtKB - Q06945 (SOX4_HUMAN)
Protein
Transcription factor SOX-4
Gene
SOX4
Organism
Homo sapiens (Human)
Status
Functioni
Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif (PubMed:30661772). Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loci of RORC to modulate expression (By similarity).By similarity1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 59 – 127 | HMG boxPROSITE-ProRule annotationAdd BLAST | 69 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: UniProtKB
- DNA-binding transcription factor activity Source: BHF-UCL
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: UniProtKB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- anatomical structure morphogenesis Source: GO_Central
- ascending aorta morphogenesis Source: BHF-UCL
- atrial septum primum morphogenesis Source: BHF-UCL
- cardiac right ventricle morphogenesis Source: BHF-UCL
- cardiac ventricle formation Source: UniProtKB
- cell differentiation Source: GO_Central
- cellular response to glucose stimulus Source: UniProtKB
- DNA damage response, detection of DNA damage Source: UniProtKB
- DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest Source: UniProtKB
- endocrine pancreas development Source: Ensembl
- glial cell development Source: UniProtKB
- glial cell proliferation Source: UniProtKB
- glucose homeostasis Source: UniProtKB
- heart development Source: BHF-UCL
- kidney morphogenesis Source: BHF-UCL
- limb bud formation Source: UniProtKB
- mitral valve morphogenesis Source: BHF-UCL
- negative regulation of cell death Source: UniProtKB
- negative regulation of cell population proliferation Source: UniProtKB
- negative regulation of protein ubiquitination Source: UniProtKB
- neural tube formation Source: UniProtKB
- neuroepithelial cell differentiation Source: UniProtKB
- noradrenergic neuron differentiation Source: UniProtKB
- positive regulation of apoptotic process Source: UniProtKB
- positive regulation of canonical Wnt signaling pathway Source: UniProtKB
- positive regulation of cell population proliferation Source: BHF-UCL
- positive regulation of gamma-delta T cell differentiation Source: UniProtKB
- positive regulation of insulin secretion Source: UniProtKB
- positive regulation of N-terminal peptidyl-lysine acetylation Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- positive regulation of translation Source: UniProtKB
- pro-B cell differentiation Source: BHF-UCL
- protein stabilization Source: BHF-UCL
- regulation of protein stability Source: UniProtKB
- regulation of transcription, DNA-templated Source: BHF-UCL
- skeletal system development Source: UniProtKB
- somatic stem cell population maintenance Source: Ensembl
- spinal cord development Source: UniProtKB
- spinal cord motor neuron differentiation Source: UniProtKB
- sympathetic nervous system development Source: UniProtKB
- T cell differentiation Source: BHF-UCL
- ventricular septum morphogenesis Source: BHF-UCL
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q06945 |
Reactomei | R-HSA-3769402, Deactivation of the beta-catenin transactivating complex |
SIGNORi | Q06945 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor SOX-4 |
Gene namesi | Name:SOX4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000124766.5 |
HGNCi | HGNC:11200, SOX4 |
MIMi | 184430, gene |
neXtProti | NX_Q06945 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation1 Publication
Mitochondrion
- mitochondrion Source: HPA
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: BHF-UCL
- transcription regulator complex Source: Ensembl
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Coffin-Siris syndrome 10 (CSS10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present. CSS10 inheritance is autosomal dominant.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083360 | 59 | I → S in CSS10; loss of DNA-binding transcription factor activity. 1 Publication | 1 | |
Natural variantiVAR_083361 | 66 | F → L in CSS10; loss of DNA-binding transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs1334099693EnsemblClinVar. | 1 | |
Natural variantiVAR_083362 | 105 | K → N in CSS10; loss of DNA-binding transcription factor activity. 1 Publication | 1 | |
Natural variantiVAR_083363 | 112 | A → P in CSS10; loss DNA-binding transcription factor activity. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 6659 |
MalaCardsi | SOX4 |
MIMi | 618506, phenotype |
OpenTargetsi | ENSG00000124766 |
Orphaneti | 1465, Coffin-Siris syndrome |
PharmGKBi | PA36037 |
Miscellaneous databases
Pharosi | Q06945, Tbio |
Polymorphism and mutation databases
BioMutai | SOX4 |
DMDMi | 548952 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048724 | 1 – 474 | Transcription factor SOX-4Add BLAST | 474 |
Proteomic databases
EPDi | Q06945 |
MassIVEi | Q06945 |
MaxQBi | Q06945 |
PaxDbi | Q06945 |
PeptideAtlasi | Q06945 |
PRIDEi | Q06945 |
ProteomicsDBi | 58488 |
PTM databases
iPTMneti | Q06945 |
PhosphoSitePlusi | Q06945 |
Expressioni
Tissue specificityi
Testis, brain, and heart.
Gene expression databases
Bgeei | ENSG00000124766, Expressed in cerebral cortex and 245 other tissues |
Genevisiblei | Q06945, HS |
Organism-specific databases
HPAi | ENSG00000124766, Tissue enhanced (blood) |
Interactioni
Subunit structurei
Interacts with UBE2I.
1 PublicationBinary interactionsi
Q06945
With | #Exp. | IntAct |
---|---|---|
TP53 [P04637] | 4 | EBI-6672525,EBI-366083 |
Protein-protein interaction databases
BioGRIDi | 112542, 48 interactors |
CORUMi | Q06945 |
DIPi | DIP-58650N |
IntActi | Q06945, 4 interactors |
STRINGi | 9606.ENSP00000244745 |
Miscellaneous databases
RNActi | Q06945, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 386 – 397 | Poly-SerAdd BLAST | 12 |
Phylogenomic databases
eggNOGi | KOG0527, Eukaryota |
GeneTreei | ENSGT00940000161470 |
HOGENOMi | CLU_043342_0_0_1 |
InParanoidi | Q06945 |
OMAi | HRSYTSL |
OrthoDBi | 1186233at2759 |
PhylomeDBi | Q06945 |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR017386, SOX-12/11/4 |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit |
PIRSFi | PIRSF038098, SOX-12/11/4a, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
i Sequence
Sequence statusi: Complete.
Q06945-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MVQQTNNAEN TEALLAGESS DSGAGLELGI ASSPTPGSTA STGGKADDPS
60 70 80 90 100
WCKTPSGHIK RPMNAFMVWS QIERRKIMEQ SPDMHNAEIS KRLGKRWKLL
110 120 130 140 150
KDSDKIPFIR EAERLRLKHM ADYPDYKYRP RKKVKSGNAN SSSSAAASSK
160 170 180 190 200
PGEKGDKVGG SGGGGHGGGG GGGSSNAGGG GGGASGGGAN SKPAQKKSCG
210 220 230 240 250
SKVAGGAGGG VSKPHAKLIL AGGGGGGKAA AAAAASFAAE QAGAAALLPL
260 270 280 290 300
GAAADHHSLY KARTPSASAS ASSAASASAA LAAPGKHLAE KKVKRVYLFG
310 320 330 340 350
GLGTSSSPVG GVGAGADPSD PLGLYEEEGA GCSPDAPSLS GRSSAASSPA
360 370 380 390 400
AGRSPADHRG YASLRAASPA PSSAPSHASS SASSHSSSSS SSGSSSSDDE
410 420 430 440 450
FEDDLLDLNP SSNFESMSLG SFSSSSALDR DLDFNFEPGS GSHFEFPDYC
460 470
TPEVSEMISG DWLESSISNL VFTY
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 71 | Q → P in CAA46612 (PubMed:1614875).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083360 | 59 | I → S in CSS10; loss of DNA-binding transcription factor activity. 1 Publication | 1 | |
Natural variantiVAR_083361 | 66 | F → L in CSS10; loss of DNA-binding transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs1334099693EnsemblClinVar. | 1 | |
Natural variantiVAR_083362 | 105 | K → N in CSS10; loss of DNA-binding transcription factor activity. 1 Publication | 1 | |
Natural variantiVAR_083363 | 112 | A → P in CSS10; loss DNA-binding transcription factor activity. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X70683 mRNA Translation: CAA50018.1 AL136179 Genomic DNA No translation available. BC072668 mRNA Translation: AAH72668.1 X65661 mRNA Translation: CAA46612.1 |
CCDSi | CCDS4547.1 |
PIRi | I38240 |
RefSeqi | NP_003098.1, NM_003107.2 |
Genome annotation databases
Ensembli | ENST00000244745; ENSP00000244745; ENSG00000124766 |
GeneIDi | 6659 |
KEGGi | hsa:6659 |
UCSCi | uc003ndi.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X70683 mRNA Translation: CAA50018.1 AL136179 Genomic DNA No translation available. BC072668 mRNA Translation: AAH72668.1 X65661 mRNA Translation: CAA46612.1 |
CCDSi | CCDS4547.1 |
PIRi | I38240 |
RefSeqi | NP_003098.1, NM_003107.2 |
3D structure databases
SMRi | Q06945 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 112542, 48 interactors |
CORUMi | Q06945 |
DIPi | DIP-58650N |
IntActi | Q06945, 4 interactors |
STRINGi | 9606.ENSP00000244745 |
PTM databases
iPTMneti | Q06945 |
PhosphoSitePlusi | Q06945 |
Polymorphism and mutation databases
BioMutai | SOX4 |
DMDMi | 548952 |
Proteomic databases
EPDi | Q06945 |
MassIVEi | Q06945 |
MaxQBi | Q06945 |
PaxDbi | Q06945 |
PeptideAtlasi | Q06945 |
PRIDEi | Q06945 |
ProteomicsDBi | 58488 |
Protocols and materials databases
Antibodypediai | 25243, 282 antibodies |
DNASUi | 6659 |
Genome annotation databases
Ensembli | ENST00000244745; ENSP00000244745; ENSG00000124766 |
GeneIDi | 6659 |
KEGGi | hsa:6659 |
UCSCi | uc003ndi.4, human |
Organism-specific databases
CTDi | 6659 |
DisGeNETi | 6659 |
EuPathDBi | HostDB:ENSG00000124766.5 |
GeneCardsi | SOX4 |
HGNCi | HGNC:11200, SOX4 |
HPAi | ENSG00000124766, Tissue enhanced (blood) |
MalaCardsi | SOX4 |
MIMi | 184430, gene 618506, phenotype |
neXtProti | NX_Q06945 |
OpenTargetsi | ENSG00000124766 |
Orphaneti | 1465, Coffin-Siris syndrome |
PharmGKBi | PA36037 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0527, Eukaryota |
GeneTreei | ENSGT00940000161470 |
HOGENOMi | CLU_043342_0_0_1 |
InParanoidi | Q06945 |
OMAi | HRSYTSL |
OrthoDBi | 1186233at2759 |
PhylomeDBi | Q06945 |
Enzyme and pathway databases
PathwayCommonsi | Q06945 |
Reactomei | R-HSA-3769402, Deactivation of the beta-catenin transactivating complex |
SIGNORi | Q06945 |
Miscellaneous databases
BioGRID-ORCSi | 6659, 27 hits in 875 CRISPR screens |
ChiTaRSi | SOX4, human |
GeneWikii | SOX4 |
GenomeRNAii | 6659 |
Pharosi | Q06945, Tbio |
PROi | PR:Q06945 |
RNActi | Q06945, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000124766, Expressed in cerebral cortex and 245 other tissues |
Genevisiblei | Q06945, HS |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf IPR017386, SOX-12/11/4 |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit |
PIRSFi | PIRSF038098, SOX-12/11/4a, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SOX4_HUMAN | |
Accessioni | Q06945Primary (citable) accession number: Q06945 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | June 1, 1994 | |
Last modified: | December 2, 2020 | |
This is version 169 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations