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P35713

- SOX18_HUMAN

UniProt

P35713 - SOX18_HUMAN

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Protein
Transcription factor SOX-18
Gene
SOX18
Organism
Homo sapiens (Human)
Status
Reviewed - 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 box
Add
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: BHF-UCL
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: BHF-UCL
  3. transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

  1. angiogenesis Source: UniProtKB
  2. blood vessel endothelial cell migration Source: UniProtKB
  3. cell maturation Source: Ensembl
  4. embryonic heart tube development Source: BHF-UCL
  5. endocardial cell differentiation Source: BHF-UCL
  6. endocardium formation Source: BHF-UCL
  7. establishment of endothelial barrier Source: UniProtKB
  8. hair cycle process Source: UniProtKB
  9. hair follicle development Source: Ensembl
  10. heart looping Source: BHF-UCL
  11. in utero embryonic development Source: Ensembl
  12. lymphangiogenesis Source: UniProtKB
  13. lymphatic endothelial cell differentiation Source: BHF-UCL
  14. mRNA transcription from RNA polymerase II promoter Source: BHF-UCL
  15. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  16. negative regulation of transcription, DNA-templated Source: BHF-UCL
  17. outflow tract morphogenesis Source: BHF-UCL
  18. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  19. positive regulation of transcription, DNA-templated Source: BHF-UCL
  20. regulation of stem cell proliferation Source: Ensembl
  21. stem cell fate specification Source: Ensembl
  22. vasculature development Source: BHF-UCL
  23. vasculogenesis Source: BHF-UCL
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: Chromosome 20

Organism-specific databases

HGNCiHGNC:11194. SOX18.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. nuclear chromatin Source: BHF-UCL
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]: A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

PTM / Processingi

Molecule processing

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

Proteomic databases

PaxDbiP35713.
PRIDEiP35713.

PTM databases

PhosphoSiteiP35713.

Expressioni

Gene expression databases

BgeeiP35713.
CleanExiHS_SOX18.
GenevestigatoriP35713.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliP35713.
SMRiP35713. Positions 82-187.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini263 – 383121Sox C-terminal
Add
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG252325.
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

MQRSPPGYGA QDDPPARRDC AWAPGHGAAA DTRGLAAGPA ALAAPAAPAS    50
PPSPQRSPPR SPEPGRYGLS PAGRGERQAA DESRIRRPMN AFMVWAKDER 100
KRLAQQNPDL HNAVLSKMLG KAWKELNAAE KRPFVEEAER LRVQHLRDHP 150
NYKYRPRRKK QARKARRLEP GLLLPGLAPP QPPPEPFPAA SGSARAFREL 200
PPLGAEFDGL GLPTPERSPL DGLEPGEAAF FPPPAAPEDC ALRPFRAPYA 250
PTELSRDPGG CYGAPLAEAL RTAPPAAPLA GLYYGTLGTP GPYPGPLSPP 300
PEAPPLESAE PLGPAADLWA DVDLTEFDQY LNCSRTRPDA PGLPYHVALA 350
KLGPRAMSCP EESSLISALS DASSAVYYSA CISG 384
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:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi12644232.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS13552.1.
PIRi S22941.
RefSeqi NP_060889.1. NM_018419.2.
UniGenei Hs.8619.

3D structure databases

ProteinModelPortali P35713.
SMRi P35713. Positions 82-187.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119936. 3 interactions.
IntActi P35713. 2 interactions.
STRINGi 9606.ENSP00000341815.

PTM databases

PhosphoSitei P35713.

Polymorphism databases

DMDMi 12644232.

Proteomic databases

PaxDbi P35713.
PRIDEi P35713.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000340356 ; ENSP00000341815 ; ENSG00000203883 .
GeneIDi 54345.
KEGGi hsa:54345.
UCSCi uc002yhs.3. human.

Organism-specific databases

CTDi 54345.
GeneCardsi GC20M062679.
HGNCi HGNC:11194. SOX18.
MIMi 601618. gene.
607823. phenotype.
neXtProti NX_P35713.
Orphaneti 69735. Hypotrichosis - lymphedema - telangiectasia.
PharmGKBi PA36031.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG252325.
HOGENOMi HOG000069999.
HOVERGENi HBG000517.
InParanoidi P35713.
KOi K09270.
OMAi YLNCSRT.
OrthoDBi EOG7R8329.
PhylomeDBi P35713.

Miscellaneous databases

GeneWikii SOX18.
GenomeRNAii 54345.
NextBioi 56587.
PROi P35713.
SOURCEi Search...

Gene expression databases

Bgeei P35713.
CleanExi HS_SOX18.
Genevestigatori P35713.

Family and domain databases

Gene3Di 1.10.30.10. 1 hit.
InterProi IPR009071. HMG_box_dom.
IPR021934. Sox_C_TAD.
[Graphical view ]
Pfami PF00505. HMG_box. 1 hit.
PF12067. Sox_C_TAD. 1 hit.
[Graphical view ]
SMARTi SM00398. HMG. 1 hit.
[Graphical view ]
SUPFAMi SSF47095. SSF47095. 1 hit.
PROSITEi PS50118. HMG_BOX_2. 1 hit.
PS51516. SOX_C. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 140 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 (1 Publication) termed SOX-8.

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

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