UniProtKB - P35713 (SOX18_HUMAN)
Protein
Transcription factor SOX-18
Gene
SOX18
Organism
Homo sapiens (Human)
Status
Functioni
Transcriptional activator that binds to the consensus sequence 5'-AACAAAG-3' in the promoter of target genes and plays an essential role in embryonic cardiovascular development and lymphangiogenesis. Activates transcription of PROX1 and other genes coding for lymphatic endothelial markers. Plays an essential role in triggering the differentiation of lymph vessels, but is not required for the maintenance of differentiated lymphatic endothelial cells. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX17. Interaction with MEF2C enhances transcriptional activation. Besides, required for normal hair development.By similarity
Caution
Was originally termed SOX-8.1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 85 – 153 | HMG boxPROSITE-ProRule annotationAdd BLAST | 69 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: BHF-UCL
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II proximal promoter sequence-specific DNA binding Source: BHF-UCL
- transcription regulatory region DNA binding Source: UniProtKB
GO - Biological processi
- angiogenesis Source: UniProtKB
- blood vessel endothelial cell migration Source: UniProtKB
- cell differentiation Source: GO_Central
- cell maturation Source: Ensembl
- embryonic heart tube development Source: BHF-UCL
- endocardial cell differentiation Source: BHF-UCL
- endocardium formation Source: BHF-UCL
- establishment of endothelial barrier Source: UniProtKB
- hair cycle process Source: UniProtKB
- hair follicle development Source: Ensembl
- heart looping Source: BHF-UCL
- in utero embryonic development Source: Ensembl
- lymphangiogenesis Source: UniProtKB
- lymphatic endothelial cell differentiation Source: BHF-UCL
- mRNA transcription by RNA polymerase II Source: BHF-UCL
- negative regulation of transcription, DNA-templated Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- outflow tract morphogenesis Source: BHF-UCL
- positive regulation of transcription, DNA-templated Source: BHF-UCL
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of stem cell proliferation Source: Ensembl
- regulation of transcription, DNA-templated Source: GO_Central
- stem cell fate specification Source: Ensembl
- vasculature development Source: BHF-UCL
- vasculogenesis Source: BHF-UCL
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
SIGNORi | P35713 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor SOX-18 |
Gene namesi | Name:SOX18 |
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:11194 SOX18 |
MIMi | 601618 gene |
neXtProti | NX_P35713 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nuclear chromatin Source: BHF-UCL
- nuclear transcription factor complex Source: GO_Central
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016210 | 95 | W → R in HLTS. 1 PublicationCorresponds to variant dbSNP:rs28936693EnsemblClinVar. | 1 | |
Natural variantiVAR_016211 | 104 | A → P in HLTS. 1 PublicationCorresponds to variant dbSNP:rs28936692EnsemblClinVar. | 1 |
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease.
Related information in OMIMKeywords - Diseasei
Disease mutation, HypotrichosisOrganism-specific databases
DisGeNETi | 54345 |
MalaCardsi | SOX18 |
MIMi | 137940 phenotype 607823 phenotype |
OpenTargetsi | ENSG00000203883 |
Orphaneti | 69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
PharmGKBi | PA36031 |
Miscellaneous databases
Pharosi | P35713 |
Polymorphism and mutation databases
BioMutai | SOX18 |
DMDMi | 12644232 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048767 | 1 – 384 | Transcription factor SOX-18Add BLAST | 384 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 70 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | P35713 |
MassIVEi | P35713 |
PaxDbi | P35713 |
PeptideAtlasi | P35713 |
PRIDEi | P35713 |
ProteomicsDBi | 55145 |
PTM databases
iPTMneti | P35713 |
PhosphoSitePlusi | P35713 |
Expressioni
Tissue specificityi
Detected in heart, lung, placenta, skeletal muscle, liver, kidney, spleen, prostate, ovary, msosmall intestine and colon.2 Publications
Gene expression databases
Bgeei | ENSG00000203883 Expressed in 95 organ(s), highest expression level in fundus of stomach |
Genevisiblei | P35713 HS |
Organism-specific databases
HPAi | HPA073703 |
Interactioni
Subunit structurei
Interacts (via C-terminus) with MEF2C (via MADS box).
By similarityProtein-protein interaction databases
BioGridi | 119936, 4 interactors |
IntActi | P35713, 2 interactors |
STRINGi | 9606.ENSP00000341815 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 263 – 383 | Sox C-terminalPROSITE-ProRule annotationAdd BLAST | 121 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 87 – 100 | Interaction with DNABy similarityAdd BLAST | 14 | |
Regioni | 111 – 123 | Interaction with DNABy similarityAdd BLAST | 13 | |
Regioni | 166 – 231 | Important for transcriptional activationBy similarityAdd BLAST | 66 |
Domaini
Binds target DNA via the HMG box domain.By similarity
Phylogenomic databases
eggNOGi | KOG0527 Eukaryota ENOG410XT0K LUCA |
GeneTreei | ENSGT00940000162709 |
HOGENOMi | HOG000069999 |
InParanoidi | P35713 |
KOi | K09270 |
OMAi | YLNCSRT |
OrthoDBi | 1042753at2759 |
PhylomeDBi | P35713 |
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 IPR033392 Sox7/17/18_central IPR021934 Sox_C |
Pfami | View protein in Pfam PF00505 HMG_box, 1 hit PF12067 Sox17_18_mid, 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 PS51516 SOX_C, 1 hit |
i Sequence
Sequence statusi: Complete.
P35713-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MQRSPPGYGA QDDPPARRDC AWAPGHGAAA DTRGLAAGPA ALAAPAAPAS
60 70 80 90 100
PPSPQRSPPR SPEPGRYGLS PAGRGERQAA DESRIRRPMN AFMVWAKDER
110 120 130 140 150
KRLAQQNPDL HNAVLSKMLG KAWKELNAAE KRPFVEEAER LRVQHLRDHP
160 170 180 190 200
NYKYRPRRKK QARKARRLEP GLLLPGLAPP QPPPEPFPAA SGSARAFREL
210 220 230 240 250
PPLGAEFDGL GLPTPERSPL DGLEPGEAAF FPPPAAPEDC ALRPFRAPYA
260 270 280 290 300
PTELSRDPGG CYGAPLAEAL RTAPPAAPLA GLYYGTLGTP GPYPGPLSPP
310 320 330 340 350
PEAPPLESAE PLGPAADLWA DVDLTEFDQY LNCSRTRPDA PGLPYHVALA
360 370 380
KLGPRAMSCP EESSLISALS DASSAVYYSA CISG
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016210 | 95 | W → R in HLTS. 1 PublicationCorresponds to variant dbSNP:rs28936693EnsemblClinVar. | 1 | |
Natural variantiVAR_016211 | 104 | A → P in HLTS. 1 PublicationCorresponds to variant dbSNP:rs28936692EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ243896 mRNA Translation: CAB95835.1 AB033888 mRNA Translation: BAA94874.1 AF270652 mRNA Translation: AAG48577.1 AL355803 Genomic DNA No translation available. BC038590 mRNA Translation: AAH38590.1 BC073971 mRNA Translation: AAH73971.1 BC111390 mRNA Translation: AAI11391.1 X65664 mRNA Translation: CAA46615.1 |
CCDSi | CCDS13552.1 |
PIRi | S22941 |
RefSeqi | NP_060889.1, NM_018419.2 |
Genome annotation databases
Ensembli | ENST00000340356; ENSP00000341815; ENSG00000203883 |
GeneIDi | 54345 |
KEGGi | hsa:54345 |
UCSCi | uc002yhs.4 human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ243896 mRNA Translation: CAB95835.1 AB033888 mRNA Translation: BAA94874.1 AF270652 mRNA Translation: AAG48577.1 AL355803 Genomic DNA No translation available. BC038590 mRNA Translation: AAH38590.1 BC073971 mRNA Translation: AAH73971.1 BC111390 mRNA Translation: AAI11391.1 X65664 mRNA Translation: CAA46615.1 |
CCDSi | CCDS13552.1 |
PIRi | S22941 |
RefSeqi | NP_060889.1, NM_018419.2 |
3D structure databases
SMRi | P35713 |
ModBasei | Search... |
Protein-protein interaction databases
BioGridi | 119936, 4 interactors |
IntActi | P35713, 2 interactors |
STRINGi | 9606.ENSP00000341815 |
PTM databases
iPTMneti | P35713 |
PhosphoSitePlusi | P35713 |
Polymorphism and mutation databases
BioMutai | SOX18 |
DMDMi | 12644232 |
Proteomic databases
jPOSTi | P35713 |
MassIVEi | P35713 |
PaxDbi | P35713 |
PeptideAtlasi | P35713 |
PRIDEi | P35713 |
ProteomicsDBi | 55145 |
Genome annotation databases
Ensembli | ENST00000340356; ENSP00000341815; ENSG00000203883 |
GeneIDi | 54345 |
KEGGi | hsa:54345 |
UCSCi | uc002yhs.4 human |
Organism-specific databases
CTDi | 54345 |
DisGeNETi | 54345 |
GeneCardsi | SOX18 |
HGNCi | HGNC:11194 SOX18 |
HPAi | HPA073703 |
MalaCardsi | SOX18 |
MIMi | 137940 phenotype 601618 gene 607823 phenotype |
neXtProti | NX_P35713 |
OpenTargetsi | ENSG00000203883 |
Orphaneti | 69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
PharmGKBi | PA36031 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0527 Eukaryota ENOG410XT0K LUCA |
GeneTreei | ENSGT00940000162709 |
HOGENOMi | HOG000069999 |
InParanoidi | P35713 |
KOi | K09270 |
OMAi | YLNCSRT |
OrthoDBi | 1042753at2759 |
PhylomeDBi | P35713 |
Enzyme and pathway databases
SIGNORi | P35713 |
Miscellaneous databases
GeneWikii | SOX18 |
GenomeRNAii | 54345 |
Pharosi | P35713 |
PROi | PR:P35713 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000203883 Expressed in 95 organ(s), highest expression level in fundus of stomach |
Genevisiblei | P35713 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 IPR033392 Sox7/17/18_central IPR021934 Sox_C |
Pfami | View protein in Pfam PF00505 HMG_box, 1 hit PF12067 Sox17_18_mid, 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 PS51516 SOX_C, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SOX18_HUMAN | |
Accessioni | P35713Primary (citable) accession number: P35713 Secondary accession number(s): Q0VGA9, Q9NPH8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | January 11, 2001 | |
Last modified: | October 16, 2019 | |
This is version 177 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
Complete proteome, Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - 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