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P35716

- SOX11_HUMAN

UniProt

P35716 - SOX11_HUMAN

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Protein

Transcription factor SOX-11

Gene

SOX11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi49 – 11769HMG boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. enhancer sequence-specific DNA binding Source: UniProtKB
  2. nucleic acid binding transcription factor activity Source: UniProtKB
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB
  4. RNA polymerase II core promoter sequence-specific DNA binding Source: UniProtKB
  5. RNA polymerase II transcription coactivator activity Source: UniProtKB
  6. transcription regulatory region sequence-specific DNA binding Source: UniProtKB
  7. translation factor activity, nucleic acid binding Source: UniProtKB

GO - Biological processi

  1. cardiac ventricle formation Source: UniProtKB
  2. closure of optic fissure Source: UniProtKB
  3. cornea development in camera-type eye Source: UniProtKB
  4. embryonic digestive tract morphogenesis Source: UniProtKB
  5. embryonic skeletal system morphogenesis Source: UniProtKB
  6. eyelid development in camera-type eye Source: UniProtKB
  7. glial cell development Source: UniProtKB
  8. glial cell proliferation Source: UniProtKB
  9. hard palate development Source: UniProtKB
  10. kidney development Source: Ensembl
  11. lens morphogenesis in camera-type eye Source: UniProtKB
  12. limb bud formation Source: UniProtKB
  13. lung morphogenesis Source: UniProtKB
  14. negative regulation of cell death Source: UniProtKB
  15. negative regulation of gene expression Source: UniProtKB
  16. negative regulation of glial cell proliferation Source: UniProtKB
  17. negative regulation of lymphocyte proliferation Source: UniProtKB
  18. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  19. negative regulation of transcription regulatory region DNA binding Source: UniProtKB
  20. neural crest cell development Source: UniProtKB
  21. neural tube formation Source: UniProtKB
  22. neuroepithelial cell differentiation Source: UniProtKB
  23. neuron differentiation Source: UniProtKB
  24. noradrenergic neuron differentiation Source: UniProtKB
  25. oligodendrocyte development Source: Ensembl
  26. outflow tract morphogenesis Source: UniProtKB
  27. positive regulation of BMP signaling pathway Source: UniProtKB
  28. positive regulation of cell proliferation Source: UniProtKB
  29. positive regulation of gene expression Source: UniProtKB
  30. positive regulation of hippo signaling Source: UniProtKB
  31. positive regulation of hormone secretion Source: UniProtKB
  32. positive regulation of lens epithelial cell proliferation Source: UniProtKB
  33. positive regulation of neurogenesis Source: UniProtKB
  34. positive regulation of neuron differentiation Source: UniProtKB
  35. positive regulation of ossification Source: UniProtKB
  36. positive regulation of osteoblast differentiation Source: UniProtKB
  37. positive regulation of stem cell proliferation Source: UniProtKB
  38. positive regulation of transcription, DNA-templated Source: UniProtKB
  39. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  40. regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
  41. signal transduction involved in cell cycle checkpoint Source: UniProtKB
  42. skeletal muscle cell differentiation Source: Ensembl
  43. skeletal system development Source: UniProtKB
  44. soft palate development Source: UniProtKB
  45. somite development Source: UniProtKB
  46. spinal cord development Source: UniProtKB
  47. sympathetic nervous system development Source: UniProtKB
  48. translation Source: GOC
  49. ventricular septum morphogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-11
Gene namesi
Name:SOX11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:11191. SOX11.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 27 (MRD27) [MIM:615866]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601S → P in MRD27; decreases transcriptional activity. 1 Publication
VAR_071461
Natural varianti116 – 1161Y → C in MRD27; decreases transcriptional activity. 1 Publication
VAR_071462

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi615866. phenotype.
Orphaneti1465. Coffin-Siris syndrome.
PharmGKBiPA36028.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 441441Transcription factor SOX-11PRO_0000048750Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei206 – 2061Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP35716.
PaxDbiP35716.
PRIDEiP35716.

PTM databases

PhosphoSiteiP35716.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP35716.
CleanExiHS_SOX11.
ExpressionAtlasiP35716. baseline and differential.
GenevestigatoriP35716.

Organism-specific databases

HPAiCAB009378.
CAB056152.
HPA000536.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000322568.

Structurei

3D structure databases

ProteinModelPortaliP35716.
SMRiP35716. Positions 47-122.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi144 – 1485Poly-Gly
Compositional biasi207 – 2148Poly-Gly
Compositional biasi223 – 23311Poly-AspAdd
BLAST
Compositional biasi338 – 35417Poly-SerAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG130659.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000231874.
HOVERGENiHBG005040.
InParanoidiP35716.
KOiK09268.
OMAiMSREATD.
OrthoDBiEOG7TMZVP.
PhylomeDBiP35716.
TreeFamiTF351735.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR029551. SOX-11.
IPR017386. SOX-12/11/4a.
[Graphical view]
PANTHERiPTHR10270:SF113. PTHR10270:SF113. 1 hit.
PfamiPF00505. HMG_box. 1 hit.
[Graphical view]
PIRSFiPIRSF038098. SOX-12/11/4a. 1 hit.
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601S → P in MRD27; decreases transcriptional activity. 1 Publication
VAR_071461
Natural varianti116 – 1161Y → C in MRD27; decreases transcriptional activity. 1 Publication
VAR_071462

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.

Polymorphism databases

DMDMi1351142.

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.
UniGenei Hs.432638.

3D structure databases

ProteinModelPortali P35716.
SMRi P35716. Positions 47-122.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000322568.

PTM databases

PhosphoSitei P35716.

Polymorphism databases

DMDMi 1351142.

Proteomic databases

MaxQBi P35716.
PaxDbi P35716.
PRIDEi P35716.

Protocols and materials databases

DNASUi 6664.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000322002 ; ENSP00000322568 ; ENSG00000176887 .
GeneIDi 6664.
KEGGi hsa:6664.
UCSCi uc002qyj.3. human.

Organism-specific databases

CTDi 6664.
GeneCardsi GC02P005842.
HGNCi HGNC:11191. SOX11.
HPAi CAB009378.
CAB056152.
HPA000536.
MIMi 600898. gene.
615866. phenotype.
neXtProti NX_P35716.
Orphaneti 1465. Coffin-Siris syndrome.
PharmGKBi PA36028.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG130659.
GeneTreei ENSGT00760000118988.
HOGENOMi HOG000231874.
HOVERGENi HBG005040.
InParanoidi P35716.
KOi K09268.
OMAi MSREATD.
OrthoDBi EOG7TMZVP.
PhylomeDBi P35716.
TreeFami TF351735.

Miscellaneous databases

ChiTaRSi SOX11. human.
GeneWikii SOX11.
GenomeRNAii 6664.
NextBioi 25981.
PROi P35716.
SOURCEi Search...

Gene expression databases

Bgeei P35716.
CleanExi HS_SOX11.
ExpressionAtlasi P35716. baseline and differential.
Genevestigatori P35716.

Family and domain databases

Gene3Di 1.10.30.10. 1 hit.
InterProi IPR009071. HMG_box_dom.
IPR029551. SOX-11.
IPR017386. SOX-12/11/4a.
[Graphical view ]
PANTHERi PTHR10270:SF113. PTHR10270:SF113. 1 hit.
Pfami PF00505. HMG_box. 1 hit.
[Graphical view ]
PIRSFi PIRSF038098. SOX-12/11/4a. 1 hit.
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 human SOX11 gene: cloning, chromosomal assignment and tissue expression."
    Jay P., Goze C., Marsollier C., Taviaux S., Hardelin J.-P., Koopman P., Berta P.
    Genomics 29:541-545(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Fetal brain.
  2. "Human SOX11, an upregulated gene during the neural differentiation, has a long 3' untranslated region."
    Azuma T., Ao S., Saito Y., Yano K., Seki N., Wakao H., Masuho Y., Muramatsu M.
    DNA Res. 6:357-360(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Neuroepithelium.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Partial cloning of SOX-11 and SOX-12, two new human SOX genes."
    Goze C., Poulat F., Berta P.
    Nucleic Acids Res. 21:2943-2943(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 57-115.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-206, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. Cited for: SUBCELLULAR LOCATION, FUNCTION, TISSUE SPECIFICITY, VARIANTS MRD27 PRO-60 AND CYS-116, CHARACTERIZATION OF VARIANTS MRD27 PRO-60 AND CYS-116.

Entry informationi

Entry nameiSOX11_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 125 of the entry and version 2 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

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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3