UniProtKB - P35716 (SOX11_HUMAN)
Protein
Transcription factor SOX-11
Gene
SOX11
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor that acts as a transcriptional activator (PubMed:24886874). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity).By similarity1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 49 – 117 | HMG boxPROSITE-ProRule annotationAdd BLAST | 69 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: GO_Central
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- anatomical structure morphogenesis Source: GO_Central
- cardiac ventricle formation Source: UniProtKB
- cell differentiation Source: GO_Central
- closure of optic fissure Source: UniProtKB
- cornea development in camera-type eye Source: UniProtKB
- embryonic digestive tract morphogenesis Source: UniProtKB
- embryonic skeletal system morphogenesis Source: UniProtKB
- eyelid development in camera-type eye Source: UniProtKB
- glial cell development Source: UniProtKB
- glial cell proliferation Source: UniProtKB
- hard palate development Source: UniProtKB
- kidney development Source: Ensembl
- lens morphogenesis in camera-type eye Source: UniProtKB
- limb bud formation Source: UniProtKB
- lung morphogenesis Source: UniProtKB
- negative regulation of cell death Source: UniProtKB
- negative regulation of gene expression Source: UniProtKB
- negative regulation of glial cell proliferation Source: UniProtKB
- negative regulation of lymphocyte proliferation Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- negative regulation of transcription regulatory region DNA binding Source: UniProtKB
- neural crest cell development Source: UniProtKB
- neural tube formation Source: UniProtKB
- neuroepithelial cell differentiation Source: UniProtKB
- neuron differentiation Source: UniProtKB
- noradrenergic neuron differentiation Source: UniProtKB
- oligodendrocyte development Source: Ensembl
- outflow tract morphogenesis Source: UniProtKB
- positive regulation of BMP signaling pathway Source: UniProtKB
- positive regulation of cell population proliferation Source: UniProtKB
- positive regulation of gene expression Source: UniProtKB
- positive regulation of hippo signaling Source: UniProtKB
- positive regulation of hormone secretion Source: UniProtKB
- positive regulation of lens epithelial cell proliferation Source: UniProtKB
- positive regulation of neurogenesis Source: UniProtKB
- positive regulation of neuron differentiation Source: UniProtKB
- positive regulation of ossification Source: UniProtKB
- positive regulation of osteoblast differentiation Source: UniProtKB
- positive regulation of stem cell proliferation Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: GO_Central
- regulation of transcription, DNA-templated Source: GO_Central
- regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
- signal transduction involved in cell cycle checkpoint Source: UniProtKB
- skeletal muscle cell differentiation Source: Ensembl
- skeletal system development Source: UniProtKB
- soft palate development Source: UniProtKB
- somite development Source: UniProtKB
- spinal cord development Source: UniProtKB
- sympathetic nervous system development Source: UniProtKB
- ventricular septum morphogenesis Source: UniProtKB
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Differentiation, Neurogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P35716 |
SIGNORi | P35716 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor SOX-11 |
Gene namesi | Name:SOX11 |
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
HGNCi | HGNC:11191, SOX11 |
MIMi | 600898, gene |
neXtProti | NX_P35716 |
VEuPathDBi | HostDB:ENSG00000176887.6 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation1 Publication
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Coffin-Siris syndrome 9 (CSS9)1 Publication
The disease is caused by variants 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. CSS9 is an autosomal dominant form characterized by dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071461 | 60 | S → P in CSS9; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777480EnsemblClinVar. | 1 | |
Natural variantiVAR_071462 | 116 | Y → C in CSS9; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777479EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 6664 |
GeneReviewsi | SOX11 |
MalaCardsi | SOX11 |
MIMi | 615866, phenotype |
OpenTargetsi | ENSG00000176887 |
Orphaneti | 1465, Coffin-Siris syndrome |
PharmGKBi | PA36028 |
Miscellaneous databases
Pharosi | P35716, Tbio |
Genetic variation databases
BioMutai | SOX11 |
DMDMi | 1351142 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048750 | 1 – 441 | Transcription factor SOX-11Add BLAST | 441 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 206 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P35716 |
MassIVEi | P35716 |
MaxQBi | P35716 |
PaxDbi | P35716 |
PeptideAtlasi | P35716 |
PRIDEi | P35716 |
ProteomicsDBi | 55146 |
PTM databases
iPTMneti | P35716 |
PhosphoSitePlusi | P35716 |
Expressioni
Tissue specificityi
Expressed primarily in the brain and heart, with low expression in the kidney, pancreas and muscle.1 Publication
Developmental stagei
Expressed primarily in the fetal brain, with low expression in the lung, and kidney at 6-7 weeks dpc (PubMed:8666406, PubMed:24886874). Weak expression in the fetal heart and muscle (PubMed:24886874).2 Publications
Gene expression databases
Bgeei | ENSG00000176887, Expressed in forebrain and 90 other tissues |
Genevisiblei | P35716, HS |
Organism-specific databases
HPAi | ENSG00000176887, Group enriched (blood, brain, heart muscle, intestine, testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 112547, 2 interactors |
IntActi | P35716, 2 interactors |
STRINGi | 9606.ENSP00000322568 |
Miscellaneous databases
RNActi | P35716, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P35716 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 409 – 441 | Required for transcriptional activation activity and synergistic coactivation of transcriptional activity with POU3F2By similarityAdd BLAST | 33 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 144 – 148 | Poly-Gly | 5 | |
Compositional biasi | 207 – 214 | Poly-Gly | 8 | |
Compositional biasi | 223 – 233 | Poly-AspAdd BLAST | 11 | |
Compositional biasi | 338 – 354 | Poly-SerAdd BLAST | 17 |
Phylogenomic databases
eggNOGi | KOG0527, Eukaryota |
GeneTreei | ENSGT00940000161652 |
HOGENOMi | CLU_043342_0_0_1 |
InParanoidi | P35716 |
OMAi | VKCVFMD |
OrthoDBi | 1186233at2759 |
PhylomeDBi | P35716 |
TreeFami | TF351735 |
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 IPR029551, SOX-11 IPR017386, SOX-12/11/4 |
PANTHERi | PTHR10270:SF113, PTHR10270:SF113, 1 hit |
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.
P35716-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MVQQAESLEA ESNLPREALD TEEGEFMACS PVALDESDPD WCKTASGHIK
60 70 80 90 100
RPMNAFMVWS KIERRKIMEQ SPDMHNAEIS KRLGKRWKML KDSEKIPFIR
110 120 130 140 150
EAERLRLKHM ADYPDYKYRP RKKPKMDPSA KPSASQSPEK SAAGGGGGSA
160 170 180 190 200
GGGAGGAKTS KGSSKKCGKL KAPAAAGAKA GAGKAAQSGD YGGAGDDYVL
210 220 230 240 250
GSLRVSGSGG GGAGKTVKCV FLDEDDDDDD DDDELQLQIK QEPDEEDEEP
260 270 280 290 300
PHQQLLQPPG QQPSQLLRRY NVAKVPASPT LSSSAESPEG ASLYDEVRAG
310 320 330 340 350
ATSGAGGGSR LYYSFKNITK QHPPPLAQPA LSPASSRSVS TSSSSSSGSS
360 370 380 390 400
SGSSGEDADD LMFDLSLNFS QSAHSASEQQ LGGGAAAGNL SLSLVDKDLD
410 420 430 440
SFSEGSLGSH FEFPDYCTPE LSEMIAGDWL EANFSDLVFT Y
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071461 | 60 | S → P in CSS9; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777480EnsemblClinVar. | 1 | |
Natural variantiVAR_071462 | 116 | Y → C in CSS9; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777479EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U23752 mRNA Translation: AAB08518.1 AB028641 mRNA Translation: BAA88122.1 AC108025 Genomic DNA Translation: AAX88930.1 X73038 Genomic DNA Translation: CAA51519.1 |
CCDSi | CCDS1654.1 |
PIRi | G01758 S34118 |
RefSeqi | NP_003099.1, NM_003108.3 |
Genome annotation databases
Ensembli | ENST00000322002; ENSP00000322568; ENSG00000176887 |
GeneIDi | 6664 |
KEGGi | hsa:6664 |
UCSCi | uc002qyj.3, 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 | U23752 mRNA Translation: AAB08518.1 AB028641 mRNA Translation: BAA88122.1 AC108025 Genomic DNA Translation: AAX88930.1 X73038 Genomic DNA Translation: CAA51519.1 |
CCDSi | CCDS1654.1 |
PIRi | G01758 S34118 |
RefSeqi | NP_003099.1, NM_003108.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6T78 | X-ray | 2.50 | A/B | 33-138 | [»] | |
6T7A | electron microscopy | 3.70 | K | 33-138 | [»] | |
6T7C | electron microscopy | 4.00 | K/L | 33-138 | [»] | |
6T7D | electron microscopy | 4.40 | K | 33-138 | [»] | |
SMRi | P35716 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112547, 2 interactors |
IntActi | P35716, 2 interactors |
STRINGi | 9606.ENSP00000322568 |
PTM databases
iPTMneti | P35716 |
PhosphoSitePlusi | P35716 |
Genetic variation databases
BioMutai | SOX11 |
DMDMi | 1351142 |
Proteomic databases
EPDi | P35716 |
MassIVEi | P35716 |
MaxQBi | P35716 |
PaxDbi | P35716 |
PeptideAtlasi | P35716 |
PRIDEi | P35716 |
ProteomicsDBi | 55146 |
Protocols and materials databases
Antibodypediai | 625, 323 antibodies |
DNASUi | 6664 |
Genome annotation databases
Ensembli | ENST00000322002; ENSP00000322568; ENSG00000176887 |
GeneIDi | 6664 |
KEGGi | hsa:6664 |
UCSCi | uc002qyj.3, human |
Organism-specific databases
CTDi | 6664 |
DisGeNETi | 6664 |
GeneCardsi | SOX11 |
GeneReviewsi | SOX11 |
HGNCi | HGNC:11191, SOX11 |
HPAi | ENSG00000176887, Group enriched (blood, brain, heart muscle, intestine, testis) |
MalaCardsi | SOX11 |
MIMi | 600898, gene 615866, phenotype |
neXtProti | NX_P35716 |
OpenTargetsi | ENSG00000176887 |
Orphaneti | 1465, Coffin-Siris syndrome |
PharmGKBi | PA36028 |
VEuPathDBi | HostDB:ENSG00000176887.6 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0527, Eukaryota |
GeneTreei | ENSGT00940000161652 |
HOGENOMi | CLU_043342_0_0_1 |
InParanoidi | P35716 |
OMAi | VKCVFMD |
OrthoDBi | 1186233at2759 |
PhylomeDBi | P35716 |
TreeFami | TF351735 |
Enzyme and pathway databases
PathwayCommonsi | P35716 |
SIGNORi | P35716 |
Miscellaneous databases
BioGRID-ORCSi | 6664, 15 hits in 901 CRISPR screens |
ChiTaRSi | SOX11, human |
GeneWikii | SOX11 |
GenomeRNAii | 6664 |
Pharosi | P35716, Tbio |
PROi | PR:P35716 |
RNActi | P35716, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000176887, Expressed in forebrain and 90 other tissues |
Genevisiblei | P35716, 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 IPR029551, SOX-11 IPR017386, SOX-12/11/4 |
PANTHERi | PTHR10270:SF113, PTHR10270:SF113, 1 hit |
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 | SOX11_HUMAN | |
Accessioni | P35716Primary (citable) accession number: P35716 Secondary accession number(s): Q4ZFV8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | February 1, 1996 | |
Last modified: | February 10, 2021 | |
This is version 172 of the entry and version 2 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
3D-structure, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references