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Q9H6I2

- SOX17_HUMAN

UniProt

Q9H6I2 - SOX17_HUMAN

Protein

Transcription factor SOX-17

Gene

SOX17

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable transcriptional activator in the premeiotic germ cells By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi68 – 13669HMG boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. beta-catenin binding Source: BHF-UCL
    2. protein binding Source: IntAct
    3. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    4. sequence-specific DNA binding Source: Ensembl
    5. transcription coactivator activity Source: Ensembl
    6. transcription factor binding Source: BHF-UCL
    7. transcription regulatory region DNA binding Source: BHF-UCL

    GO - Biological processi

    1. angiogenesis Source: BHF-UCL
    2. canonical Wnt signaling pathway Source: Ensembl
    3. cardiac cell fate determination Source: BHF-UCL
    4. cardiogenic plate morphogenesis Source: BHF-UCL
    5. cell migration involved in gastrulation Source: Ensembl
    6. common bile duct development Source: Ensembl
    7. embryonic foregut morphogenesis Source: BHF-UCL
    8. embryonic heart tube development Source: BHF-UCL
    9. embryonic heart tube morphogenesis Source: BHF-UCL
    10. endocardial cell differentiation Source: BHF-UCL
    11. endocardium formation Source: BHF-UCL
    12. endodermal cell fate determination Source: Ensembl
    13. endodermal digestive tract morphogenesis Source: BHF-UCL
    14. endoderm formation Source: UniProtKB
    15. gall bladder development Source: Ensembl
    16. heart formation Source: BHF-UCL
    17. heart looping Source: UniProtKB
    18. inner cell mass cellular morphogenesis Source: Ensembl
    19. mRNA transcription from RNA polymerase II promoter Source: BHF-UCL
    20. negative regulation of canonical Wnt signaling pathway Source: BHF-UCL
    21. negative regulation of cell growth Source: BHF-UCL
    22. negative regulation of mesodermal cell fate specification Source: Ensembl
    23. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    24. negative regulation of Wnt signaling pathway involved in heart development Source: Ensembl
    25. outflow tract morphogenesis Source: BHF-UCL
    26. positive regulation of cell differentiation Source: Ensembl
    27. positive regulation of protein catabolic process Source: Ensembl
    28. positive regulation of skeletal muscle tissue development Source: Ensembl
    29. positive regulation of transcription, DNA-templated Source: BHF-UCL
    30. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    31. protein destabilization Source: BHF-UCL
    32. protein stabilization Source: BHF-UCL
    33. regulation of cardiac cell fate specification Source: Ensembl
    34. regulation of embryonic development Source: UniProtKB
    35. regulation of stem cell division Source: Ensembl
    36. regulation of stem cell proliferation Source: Ensembl
    37. regulation of transcription, DNA-templated Source: UniProtKB
    38. regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification Source: BHF-UCL
    39. renal system development Source: BHF-UCL
    40. rostrocaudal neural tube patterning Source: Ensembl
    41. signal transduction involved in regulation of gene expression Source: Ensembl
    42. spermatogenesis Source: Ensembl
    43. stem cell fate specification Source: Ensembl
    44. vasculogenesis Source: BHF-UCL

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation, Wnt signaling pathway

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transcription factor SOX-17
    Gene namesi
    Name:SOX17
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:18122. SOX17.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB
    2. transcription factor complex Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Vesicoureteral reflux 3 (VUR3) [MIM:613674]: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171Q → QTQ in VUR3.
    VAR_065168
    Natural varianti178 – 1781G → C in VUR3. 1 Publication
    VAR_065169
    Natural varianti259 – 2591Y → N in VUR3; increased levels of the mutant protein that is associated with increased suppression of CTNNB1 signaling of the Wnt pathway compared to wild-type. 1 Publication
    VAR_065170

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi613674. phenotype.
    Orphaneti289365. Familial vesicoureteral reflux.
    PharmGKBiPA38296.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 414414Transcription factor SOX-17PRO_0000048765Add
    BLAST

    Proteomic databases

    PaxDbiQ9H6I2.
    PRIDEiQ9H6I2.

    PTM databases

    PhosphoSiteiQ9H6I2.

    Expressioni

    Tissue specificityi

    Expressed in adult heart, lung, spleen, testis, ovary, placenta, fetal lung, and kidney. In normal gastrointestinal tract, it is preferentially expressed in esophagus, stomach and small intestine than in colon and rectum.1 Publication

    Gene expression databases

    ArrayExpressiQ9H6I2.
    BgeeiQ9H6I2.
    CleanExiHS_SOX17.
    GenevestigatoriQ9H6I2.

    Organism-specific databases

    HPAiCAB025594.

    Interactioni

    Subunit structurei

    Interacts with CTNNB1, LEF1 and TCF4.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CTNNB1P352222EBI-9106753,EBI-491549

    Protein-protein interaction databases

    IntActiQ9H6I2. 2 interactions.
    STRINGi9606.ENSP00000297316.

    Structurei

    Secondary structure

    1
    414
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi74 – 8714
    Helixi95 – 10814
    Helixi111 – 12919

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2YULNMR-A68-136[»]
    4A3NX-ray2.40A68-136[»]
    ProteinModelPortaliQ9H6I2.
    SMRiQ9H6I2. Positions 68-141.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9H6I2.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini280 – 413134Sox C-terminalPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi312 – 35140Gln/Pro-richAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG242943.
    HOGENOMiHOG000069999.
    HOVERGENiHBG000517.
    InParanoidiQ9H6I2.
    KOiK04495.
    OMAiCKPEMGL.
    OrthoDBiEOG7Z3F4W.
    PhylomeDBiQ9H6I2.

    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. 2 hits.
    [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.

    Q9H6I2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSSPDAGYAS DDQSQTQSAL PAVMAGLGPC PWAESLSPIG DMKVKGEAPA    50
    NSGAPAGAAG RAKGESRIRR PMNAFMVWAK DERKRLAQQN PDLHNAELSK 100
    MLGKSWKALT LAEKRPFVEE AERLRVQHMQ DHPNYKYRPR RRKQVKRLKR 150
    VEGGFLHGLA EPQAAALGPE GGRVAMDGLG LQFPEQGFPA GPPLLPPHMG 200
    GHYRDCQSLG APPLDGYPLP TPDTSPLDGV DPDPAFFAAP MPGDCPAAGT 250
    YSYAQVSDYA GPPEPPAGPM HPRLGPEPAG PSIPGLLAPP SALHVYYGAM 300
    GSPGAGGGRG FQMQPQHQHQ HQHQHHPPGP GQPSPPPEAL PCRDGTDPSQ 350
    PAELLGEVDR TEFEQYLHFV CKPEMGLPYQ GHDSGVNLPD SHGAISSVVS 400
    DASSAVYYCN YPDV 414
    Length:414
    Mass (Da):44,117
    Last modified:March 1, 2001 - v1
    Checksum:iC78D1F24BA00ECD1
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171Q → QTQ in VUR3.
    VAR_065168
    Natural varianti178 – 1781G → C in VUR3. 1 Publication
    VAR_065169
    Natural varianti259 – 2591Y → N in VUR3; increased levels of the mutant protein that is associated with increased suppression of CTNNB1 signaling of the Wnt pathway compared to wild-type. 1 Publication
    VAR_065170

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB073988 mRNA. Translation: BAB83867.1.
    AK025905 mRNA. Translation: BAB15277.1.
    CCDSiCCDS6159.1.
    RefSeqiNP_071899.1. NM_022454.3.
    UniGeneiHs.98367.

    Genome annotation databases

    EnsembliENST00000297316; ENSP00000297316; ENSG00000164736.
    GeneIDi64321.
    KEGGihsa:64321.
    UCSCiuc003xsb.4. human.

    Polymorphism databases

    DMDMi23822216.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB073988 mRNA. Translation: BAB83867.1 .
    AK025905 mRNA. Translation: BAB15277.1 .
    CCDSi CCDS6159.1.
    RefSeqi NP_071899.1. NM_022454.3.
    UniGenei Hs.98367.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2YUL NMR - A 68-136 [» ]
    4A3N X-ray 2.40 A 68-136 [» ]
    ProteinModelPortali Q9H6I2.
    SMRi Q9H6I2. Positions 68-141.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9H6I2. 2 interactions.
    STRINGi 9606.ENSP00000297316.

    PTM databases

    PhosphoSitei Q9H6I2.

    Polymorphism databases

    DMDMi 23822216.

    Proteomic databases

    PaxDbi Q9H6I2.
    PRIDEi Q9H6I2.

    Protocols and materials databases

    DNASUi 64321.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297316 ; ENSP00000297316 ; ENSG00000164736 .
    GeneIDi 64321.
    KEGGi hsa:64321.
    UCSCi uc003xsb.4. human.

    Organism-specific databases

    CTDi 64321.
    GeneCardsi GC08P055370.
    H-InvDB HIX0034521.
    HGNCi HGNC:18122. SOX17.
    HPAi CAB025594.
    MIMi 610928. gene.
    613674. phenotype.
    neXtProti NX_Q9H6I2.
    Orphaneti 289365. Familial vesicoureteral reflux.
    PharmGKBi PA38296.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG242943.
    HOGENOMi HOG000069999.
    HOVERGENi HBG000517.
    InParanoidi Q9H6I2.
    KOi K04495.
    OMAi CKPEMGL.
    OrthoDBi EOG7Z3F4W.
    PhylomeDBi Q9H6I2.

    Miscellaneous databases

    EvolutionaryTracei Q9H6I2.
    GenomeRNAii 64321.
    NextBioi 66237.
    PROi Q9H6I2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H6I2.
    Bgeei Q9H6I2.
    CleanExi HS_SOX17.
    Genevestigatori Q9H6I2.

    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. 2 hits.
    [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. "Molecular cloning and characterization of human SOX17."
      Katoh M.
      Int. J. Mol. Med. 9:153-157(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "Solution structure of the HMG box of human transcription factor SOX-17."
      RIKEN structural genomics initiative (RSGI)
      Submitted (APR-2008) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 62-139.
    4. Cited for: VARIANTS VUR3 17-GLN--GLN-19 INS; CYS-178 AND ASN-259.

    Entry informationi

    Entry nameiSOX17_HUMAN
    AccessioniPrimary (citable) accession number: Q9H6I2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 10, 2002
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 112 of the entry and version 1 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

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3