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Protein

Transcription factor SOX-11

Gene

SOX11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

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 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:11191. SOX11.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

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)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.

Polymorphism and mutation databases

BioMutaiSOX11.
DMDMi1351142.

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.
GenevisibleiP35716. HS.

Organism-specific databases

HPAiCAB056152.
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.
OMAiNPDWCKT.
OrthoDBiEOG7TMZVP.
PhylomeDBiP35716.
TreeFamiTF351735.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR029551. SOX-11.
[Graphical view]
PANTHERiPTHR10270:SF113. PTHR10270:SF113. 1 hit.
PfamiPF00505. HMG_box. 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.

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.

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. Positions 47-122.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000322568.

PTM databases

PhosphoSiteiP35716.

Polymorphism and mutation databases

BioMutaiSOX11.
DMDMi1351142.

Proteomic databases

MaxQBiP35716.
PaxDbiP35716.
PRIDEiP35716.

Protocols and materials databases

DNASUi6664.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6664.
GeneCardsiGC02P005842.
HGNCiHGNC:11191. SOX11.
HPAiCAB056152.
HPA000536.
MIMi600898. gene.
615866. phenotype.
neXtProtiNX_P35716.
Orphaneti1465. Coffin-Siris syndrome.
PharmGKBiPA36028.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiSOX11. human.
GeneWikiiSOX11.
GenomeRNAii6664.
NextBioi25981.
PROiP35716.
SOURCEiSearch...

Gene expression databases

BgeeiP35716.
CleanExiHS_SOX11.
GenevisibleiP35716. HS.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR029551. SOX-11.
[Graphical view]
PANTHERiPTHR10270:SF113. PTHR10270:SF113. 1 hit.
PfamiPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: June 24, 2015
This is version 131 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.