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Protein

Transcription factor SOX-18

Gene

SOX18

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi85 – 15369HMG boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-18
Gene namesi
Name:SOX18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:11194. SOX18.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  • nuclear chromatin Source: BHF-UCL
  • nuclear transcription factor complex Source: Ensembl
  • nucleus Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti95 – 951W → R in HLTS. 1 Publication
Corresponds to variant rs28936693 [ dbSNP | Ensembl ].
VAR_016210
Natural varianti104 – 1041A → P in HLTS. 1 Publication
Corresponds to variant rs28936692 [ dbSNP | Ensembl ].
VAR_016211

Keywords - Diseasei

Disease mutation, Hypotrichosis

Organism-specific databases

MIMi607823. phenotype.
Orphaneti69735. Hypotrichosis - lymphedema - telangiectasia.
PharmGKBiPA36031.

Polymorphism and mutation databases

BioMutaiSOX18.
DMDMi12644232.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 384384Transcription factor SOX-18PRO_0000048767Add
BLAST

Proteomic databases

PaxDbiP35713.
PRIDEiP35713.

PTM databases

PhosphoSiteiP35713.

Expressioni

Gene expression databases

BgeeiP35713.
CleanExiHS_SOX18.
GenevisibleiP35713. HS.

Interactioni

Protein-protein interaction databases

BioGridi119936. 3 interactions.
IntActiP35713. 2 interactions.
STRINGi9606.ENSP00000341815.

Structurei

3D structure databases

ProteinModelPortaliP35713.
SMRiP35713. Positions 82-187.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini263 – 383121Sox C-terminalPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG252325.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000069999.
HOVERGENiHBG000517.
InParanoidiP35713.
KOiK09270.
OMAiYLNCSRT.
OrthoDBiEOG7R8329.
PhylomeDBiP35713.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR021934. Sox_C_TAD.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF12067. Sox_C_TAD. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
PS51516. SOX_C. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti95 – 951W → R in HLTS. 1 Publication
Corresponds to variant rs28936693 [ dbSNP | Ensembl ].
VAR_016210
Natural varianti104 – 1041A → P in HLTS. 1 Publication
Corresponds to variant rs28936692 [ dbSNP | Ensembl ].
VAR_016211

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. Translation: CAC16611.1.
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.3. human.

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. Translation: CAC16611.1.
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. Positions 82-187.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119936. 3 interactions.
IntActiP35713. 2 interactions.
STRINGi9606.ENSP00000341815.

PTM databases

PhosphoSiteiP35713.

Polymorphism and mutation databases

BioMutaiSOX18.
DMDMi12644232.

Proteomic databases

PaxDbiP35713.
PRIDEiP35713.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340356; ENSP00000341815; ENSG00000203883.
GeneIDi54345.
KEGGihsa:54345.
UCSCiuc002yhs.3. human.

Organism-specific databases

CTDi54345.
GeneCardsiGC20M062679.
HGNCiHGNC:11194. SOX18.
MIMi601618. gene.
607823. phenotype.
neXtProtiNX_P35713.
Orphaneti69735. Hypotrichosis - lymphedema - telangiectasia.
PharmGKBiPA36031.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG252325.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000069999.
HOVERGENiHBG000517.
InParanoidiP35713.
KOiK09270.
OMAiYLNCSRT.
OrthoDBiEOG7R8329.
PhylomeDBiP35713.

Miscellaneous databases

GeneWikiiSOX18.
GenomeRNAii54345.
NextBioi56587.
PROiP35713.
SOURCEiSearch...

Gene expression databases

BgeeiP35713.
CleanExiHS_SOX18.
GenevisibleiP35713. HS.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR021934. Sox_C_TAD.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF12067. Sox_C_TAD. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
PS51516. SOX_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The human SOX18 gene: cDNA cloning and high resolution mapping."
    Stanojcic S., Stevanovic M.
    Biochim. Biophys. Acta 1492:237-241(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18."
    Azuma T., Seki N., Yoshikawa T., Saito T., Masuho Y., Muramatsu M.
    J. Hum. Genet. 45:192-195(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain, Ovary and PNS.
  6. "A conserved family of genes related to the testis determining gene, SRY."
    Denny P., Swift S., Brand N., Dabhade N., Barton P., Ashworth A.
    Nucleic Acids Res. 20:2887-2887(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-149.
  7. "Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia."
    Irrthum A., Devriendt K., Chitayat D., Matthijs G., Glade C., Steijlen P.M., Fryns J.-P., Van Steensel M.A.M., Vikkula M.
    Am. J. Hum. Genet. 72:1470-1478(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HLTS ARG-95 AND PRO-104.

Entry informationi

Entry nameiSOX18_HUMAN
AccessioniPrimary (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: June 24, 2015
This is version 145 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

Caution

Was originally termed SOX-8.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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.