SOX18

Functionⁱ

Binds to the consensus sequence 5'-AACAAAG-3' and is able to trans-activate transcription via this site.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 factor activity, RNA polymerase II-specific Source: NTNU_SB
protein heterodimerization activity Source: Ensembl
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific
Source: BHF-UCL
Inferred from direct assayⁱ
- 22292085
RNA polymerase II proximal promoter sequence-specific DNA binding
Source: BHF-UCL
Inferred from direct assayⁱ
- 22292085
transcription regulatory region DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 18065521

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

angiogenesis
Source: UniProtKB
Inferred from expression patternⁱ
- 16882943
blood vessel endothelial cell migration
Source: UniProtKB
Inferred from expression patternⁱ
- 16882943
cell differentiation
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
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
Inferred from mutant phenotypeⁱ
- 18065521
hair cycle process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 12740761
hair follicle development Source: Ensembl
heart looping Source: BHF-UCL
in utero embryonic development Source: Ensembl
lymphangiogenesis
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 12740761
lymphatic endothelial cell differentiation Source: BHF-UCL
mRNA transcription by RNA polymerase II
Source: BHF-UCL
Inferred from direct assayⁱ
- 22292085
negative regulation of transcription, DNA-templated Source: BHF-UCL
negative regulation of transcription by RNA polymerase II
Source: BHF-UCL
Inferred from direct assayⁱ
- 22292085
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
Inferred from direct assayⁱ
- 18065521
regulation of stem cell proliferation Source: Ensembl
regulation of transcription, DNA-templated
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
stem cell fate specification Source: Ensembl
vasculature development Source: BHF-UCL
vasculogenesis Source: BHF-UCL

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, DNA-binding
Biological process	Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORⁱ	P35713

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 20

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000203883.6
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11194 SOX18
MIMⁱ	601618 gene
neXtProtⁱ	NX_P35713

Keywords - Cellular componentⁱ

Nucleus

Pathology & 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.

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.

Keywords - Diseaseⁱ

Disease mutation, Hypotrichosis

Organism-specific databases

DisGeNET More...DisGeNETⁱ	54345
MalaCards human disease database More...MalaCardsⁱ	SOX18
MIMⁱ	137940 phenotype 607823 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000203883
Orphanetⁱ	69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
PharmGKBⁱ	PA36031

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

Phosphoprotein

Proteomic databases

PaxDbⁱ	P35713
PeptideAtlas More...PeptideAtlasⁱ	P35713
PRIDEⁱ	P35713
ProteomicsDBⁱ	55145

PTM databases

iPTMnetⁱ	P35713
PhosphoSitePlusⁱ	P35713

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000203883 Expressed in 95 organ(s), highest expression level in fundus of stomach
CleanExⁱ	HS_SOX18
Genevisibleⁱ	P35713 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA073703

HPAⁱ

HPA073703

Interactionⁱ

GO - Molecular functionⁱ

protein heterodimerization activity Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	119936, 4 interactors
IntActⁱ	P35713, 2 interactors
STRINGⁱ	9606.ENSP00000341815

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P35713
SMRⁱ	P35713
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	263 – 383	Sox C-terminalPROSITE-ProRule annotationAdd BLAST		121

Phylogenomic databases

eggNOGⁱ	KOG0527 Eukaryota ENOG410XT0K LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118988
HOGENOMⁱ	HOG000069999
HOVERGENⁱ	HBG000517
InParanoidⁱ	P35713
KEGG Orthology (KO) More...KOⁱ	K09270
OMAⁱ	YLNCSRT
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0CYU
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
Pfam protein domain database More...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

Sequenceⁱ

Sequence statusⁱ: Complete.

P35713-1 [UniParc]FASTA Add to basket

« Hide

        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

Length:384

Mass (Da):40,891

Last modified:January 11, 2001 - v2

Checksum:ⁱ327462E519770062

GO

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS13552.1
PIRⁱ	S22941
NCBI Reference Sequences More...RefSeqⁱ	NP_060889.1, NM_018419.2
UniGeneⁱ	Hs.8619

Genome annotation databases

Ensemblⁱ	ENST00000340356; ENSP00000341815; ENSG00000203883
GeneIDⁱ	54345
KEGGⁱ	hsa:54345
UCSC genome browser More...UCSCⁱ	uc002yhs.4 human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P35713	SOX18 isoform 1		PANTR		296	UniRef100_P35713

Protein	Similar proteins		Species	Score	Length	Source
P35713	SOX18 isoform 1		PANTR		296	UniRef90_P35713
transcription factor SOX-18		Enhydra lutris kenyoni		397
SRY-box 18 (Fragment)		MUSPF		95
transcription factor SOX-18		DELLE		390
SRY (Sex determining region Y)-box 18		BOVIN		389
+29

Protein	Similar proteins		Species	Score	Length	Source
P35713	SOX18 isoform 1		PANTR		296	UniRef50_P35713
transcription factor SOX-18		Enhydra lutris kenyoni		397
SRY-box 18 (Fragment)		MUSPF		95
transcription factor SOX-18		DELLE		390
Uncharacterized protein		PIG		389
+38

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
UniGeneⁱ	Hs.8619

3D structure databases

ProteinModelPortalⁱ	P35713
SMRⁱ	P35713
ModBaseⁱ	Search...
MobiDBⁱ	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

PaxDbⁱ	P35713
PeptideAtlasⁱ	P35713
PRIDEⁱ	P35713
ProteomicsDBⁱ	55145

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000340356; ENSP00000341815; ENSG00000203883
GeneIDⁱ	54345
KEGGⁱ	hsa:54345
UCSCⁱ	uc002yhs.4 human

Organism-specific databases

CTDⁱ	54345
DisGeNETⁱ	54345
EuPathDBⁱ	HostDB:ENSG00000203883.6
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0527 Eukaryota ENOG410XT0K LUCA
GeneTreeⁱ	ENSGT00760000118988
HOGENOMⁱ	HOG000069999
HOVERGENⁱ	HBG000517
InParanoidⁱ	P35713
KOⁱ	K09270
OMAⁱ	YLNCSRT
OrthoDBⁱ	EOG091G0CYU
PhylomeDBⁱ	P35713

Enzyme and pathway databases

SIGNORⁱ	P35713

SIGNORⁱ

P35713

Miscellaneous databases

GeneWikiⁱ	SOX18
GenomeRNAiⁱ	54345
Protein Ontology More...PROⁱ	PR:P35713
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000203883 Expressed in 95 organ(s), highest expression level in fundus of stomach
CleanExⁱ	HS_SOX18
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...

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:	November 7, 2018
	This is version 170 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 proteome

Documents

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
Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - P35713 (SOX18_HUMAN)

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Transcription factor SOX-18

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ