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P35713

- SOX18_HUMAN

UniProt

P35713 - SOX18_HUMAN

Protein

Transcription factor SOX-18

Gene

SOX18

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 2 (11 Jan 2001)
      Previous versions | rss
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    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

    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, DNA-templated Source: BHF-UCL
    16. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    17. outflow tract morphogenesis Source: BHF-UCL
    18. positive regulation of transcription, DNA-templated Source: BHF-UCL
    19. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    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

    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 PROSITE-ProRule annotation

    GO - Cellular componenti

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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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-18PRO_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.
    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.
    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

    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: October 1, 2014
    This is version 141 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