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Protein

Transcription factor SOX-11

Gene

SOX11

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

Functioni

Transcriptional factor involved in the embryonic neurogenesis. May also have a role in tissue modeling during development.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi49 – 117HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORiP35716

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-11
Gene namesi
Name:SOX11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000176887.6
HGNCiHGNC:11191 SOX11
MIMi600898 gene
neXtProtiNX_P35716

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 27 (MRD27)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD27 patients show dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.
See also OMIM:615866
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07146160S → P in MRD27; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777480EnsemblClinVar.1
Natural variantiVAR_071462116Y → C in MRD27; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777479EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi6664
MalaCardsiSOX11
MIMi615866 phenotype
OpenTargetsiENSG00000176887
Orphaneti1465 Coffin-Siris syndrome
PharmGKBiPA36028

Polymorphism and mutation databases

BioMutaiSOX11
DMDMi1351142

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000487501 – 441Transcription factor SOX-11Add BLAST441

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei206PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP35716
MaxQBiP35716
PaxDbiP35716
PeptideAtlasiP35716
PRIDEiP35716
ProteomicsDBi55146

PTM databases

iPTMnetiP35716
PhosphoSitePlusiP35716

Expressioni

Tissue specificityi

Expressed mainly in the nervous system, brain (fetus and adult) and hear (adult).2 Publications

Gene expression databases

BgeeiENSG00000176887 Expressed in 76 organ(s), highest expression level in forebrain
CleanExiHS_SOX11
GenevisibleiP35716 HS

Organism-specific databases

HPAiCAB056152
CAB056153
HPA000536

Interactioni

Protein-protein interaction databases

BioGridi112547, 2 interactors
IntActiP35716, 1 interactor
STRINGi9606.ENSP00000322568

Structurei

3D structure databases

ProteinModelPortaliP35716
SMRiP35716
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi144 – 148Poly-Gly5
Compositional biasi207 – 214Poly-Gly8
Compositional biasi223 – 233Poly-AspAdd BLAST11
Compositional biasi338 – 354Poly-SerAdd BLAST17

Phylogenomic databases

eggNOGiENOG410IPZ2 Eukaryota
ENOG4110BIV LUCA
GeneTreeiENSGT00760000118988
HOGENOMiHOG000231874
HOVERGENiHBG005040
InParanoidiP35716
KOiK09268
OMAiVKCVFMD
OrthoDBiEOG091G0F15
PhylomeDBiP35716
TreeFamiTF351735

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR029551 SOX-11
IPR017386 SOX-11/4
PANTHERiPTHR10270:SF113 PTHR10270:SF113, 1 hit
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PIRSFiPIRSF038098 SOX-12/11/4a, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit

Sequencei

Sequence statusi: Complete.

P35716-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:441
Mass (Da):46,679
Last modified:February 1, 1996 - v2
Checksum:i50567A654F503C63
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07146160S → P in MRD27; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777480EnsemblClinVar.1
Natural variantiVAR_071462116Y → C in MRD27; 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
CCDSiCCDS1654.1
PIRiG01758
S34118
RefSeqiNP_003099.1, NM_003108.3
UniGeneiHs.432638

Genome annotation databases

EnsembliENST00000322002; ENSP00000322568; ENSG00000176887
GeneIDi6664
KEGGihsa:6664
UCSCiuc002qyj.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
CCDSiCCDS1654.1
PIRiG01758
S34118
RefSeqiNP_003099.1, NM_003108.3
UniGeneiHs.432638

3D structure databases

ProteinModelPortaliP35716
SMRiP35716
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112547, 2 interactors
IntActiP35716, 1 interactor
STRINGi9606.ENSP00000322568

PTM databases

iPTMnetiP35716
PhosphoSitePlusiP35716

Polymorphism and mutation databases

BioMutaiSOX11
DMDMi1351142

Proteomic databases

EPDiP35716
MaxQBiP35716
PaxDbiP35716
PeptideAtlasiP35716
PRIDEiP35716
ProteomicsDBi55146

Protocols and materials databases

DNASUi6664
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322002; ENSP00000322568; ENSG00000176887
GeneIDi6664
KEGGihsa:6664
UCSCiuc002qyj.3 human

Organism-specific databases

CTDi6664
DisGeNETi6664
EuPathDBiHostDB:ENSG00000176887.6
GeneCardsiSOX11
HGNCiHGNC:11191 SOX11
HPAiCAB056152
CAB056153
HPA000536
MalaCardsiSOX11
MIMi600898 gene
615866 phenotype
neXtProtiNX_P35716
OpenTargetsiENSG00000176887
Orphaneti1465 Coffin-Siris syndrome
PharmGKBiPA36028
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IPZ2 Eukaryota
ENOG4110BIV LUCA
GeneTreeiENSGT00760000118988
HOGENOMiHOG000231874
HOVERGENiHBG005040
InParanoidiP35716
KOiK09268
OMAiVKCVFMD
OrthoDBiEOG091G0F15
PhylomeDBiP35716
TreeFamiTF351735

Enzyme and pathway databases

SIGNORiP35716

Miscellaneous databases

ChiTaRSiSOX11 human
GeneWikiiSOX11
GenomeRNAii6664
PROiPR:P35716
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176887 Expressed in 76 organ(s), highest expression level in forebrain
CleanExiHS_SOX11
GenevisibleiP35716 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR029551 SOX-11
IPR017386 SOX-11/4
PANTHERiPTHR10270:SF113 PTHR10270:SF113, 1 hit
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PIRSFiPIRSF038098 SOX-12/11/4a, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSOX11_HUMAN
AccessioniPrimary (citable) accession number: P35716
Secondary accession number(s): Q4ZFV8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: February 1, 1996
Last modified: November 7, 2018
This is version 157 of the entry and version 2 of the sequence. See 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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