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Protein

Transcription factor SOX-18

Gene

SOX18

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

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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi85 – 153HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiP35713

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-18
Gene namesi
Name:SOX18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000203883.6
HGNCiHGNC:11194 SOX18
MIMi601618 gene
neXtProtiNX_P35713

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

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.
See also OMIM:607823
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01621095W → R in HLTS. 1 PublicationCorresponds to variant dbSNP:rs28936693EnsemblClinVar.1
Natural variantiVAR_016211104A → 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.
See also OMIM:137940

Keywords - Diseasei

Disease mutation, Hypotrichosis

Organism-specific databases

DisGeNETi54345
MalaCardsiSOX18
MIMi137940 phenotype
607823 phenotype
OpenTargetsiENSG00000203883
Orphaneti69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
PharmGKBiPA36031

Polymorphism and mutation databases

BioMutaiSOX18
DMDMi12644232

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000487671 – 384Transcription factor SOX-18Add BLAST384

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei70PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP35713
PeptideAtlasiP35713
PRIDEiP35713
ProteomicsDBi55145

PTM databases

iPTMnetiP35713
PhosphoSitePlusiP35713

Expressioni

Gene expression databases

BgeeiENSG00000203883 Expressed in 95 organ(s), highest expression level in fundus of stomach
CleanExiHS_SOX18
GenevisibleiP35713 HS

Organism-specific databases

HPAiHPA073703

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119936, 4 interactors
IntActiP35713, 2 interactors
STRINGi9606.ENSP00000341815

Structurei

3D structure databases

ProteinModelPortaliP35713
SMRiP35713
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini263 – 383Sox C-terminalPROSITE-ProRule annotationAdd BLAST121

Phylogenomic databases

eggNOGiKOG0527 Eukaryota
ENOG410XT0K LUCA
GeneTreeiENSGT00760000118988
HOGENOMiHOG000069999
HOVERGENiHBG000517
InParanoidiP35713
KOiK09270
OMAiYLNCSRT
OrthoDBiEOG091G0CYU
PhylomeDBiP35713

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR033392 Sox7/17/18_central
IPR021934 Sox_C
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PF12067 Sox17_18_mid, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit
PS51516 SOX_C, 1 hit

Sequencei

Sequence statusi: Complete.

P35713-1 [UniParc]FASTAAdd 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01621095W → R in HLTS. 1 PublicationCorresponds to variant dbSNP:rs28936693EnsemblClinVar.1
Natural variantiVAR_016211104A → 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
CCDSiCCDS13552.1
PIRiS22941
RefSeqiNP_060889.1, NM_018419.2
UniGeneiHs.8619

Genome annotation databases

EnsembliENST00000340356; ENSP00000341815; ENSG00000203883
GeneIDi54345
KEGGihsa:54345
UCSCiuc002yhs.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
CCDSiCCDS13552.1
PIRiS22941
RefSeqiNP_060889.1, NM_018419.2
UniGeneiHs.8619

3D structure databases

ProteinModelPortaliP35713
SMRiP35713
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119936, 4 interactors
IntActiP35713, 2 interactors
STRINGi9606.ENSP00000341815

PTM databases

iPTMnetiP35713
PhosphoSitePlusiP35713

Polymorphism and mutation databases

BioMutaiSOX18
DMDMi12644232

Proteomic databases

PaxDbiP35713
PeptideAtlasiP35713
PRIDEiP35713
ProteomicsDBi55145

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340356; ENSP00000341815; ENSG00000203883
GeneIDi54345
KEGGihsa:54345
UCSCiuc002yhs.4 human

Organism-specific databases

CTDi54345
DisGeNETi54345
EuPathDBiHostDB:ENSG00000203883.6
GeneCardsiSOX18
HGNCiHGNC:11194 SOX18
HPAiHPA073703
MalaCardsiSOX18
MIMi137940 phenotype
601618 gene
607823 phenotype
neXtProtiNX_P35713
OpenTargetsiENSG00000203883
Orphaneti69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
PharmGKBiPA36031
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0527 Eukaryota
ENOG410XT0K LUCA
GeneTreeiENSGT00760000118988
HOGENOMiHOG000069999
HOVERGENiHBG000517
InParanoidiP35713
KOiK09270
OMAiYLNCSRT
OrthoDBiEOG091G0CYU
PhylomeDBiP35713

Enzyme and pathway databases

SIGNORiP35713

Miscellaneous databases

GeneWikiiSOX18
GenomeRNAii54345
PROiPR:P35713
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000203883 Expressed in 95 organ(s), highest expression level in fundus of stomach
CleanExiHS_SOX18
GenevisibleiP35713 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR033392 Sox7/17/18_central
IPR021934 Sox_C
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PF12067 Sox17_18_mid, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit
PS51516 SOX_C, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSOX18_HUMAN
AccessioniPrimary (citable) accession number: P35713
Secondary accession number(s): Q0VGA9, Q9NPH8
Entry historyiIntegrated 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 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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