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Q9H6I2

- SOX17_HUMAN

UniProt

Q9H6I2 - SOX17_HUMAN

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Protein

Transcription factor SOX-17

Gene

SOX17

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  3. sequence-specific DNA binding Source: Ensembl
  4. transcription coactivator activity Source: Ensembl
  5. transcription factor binding Source: BHF-UCL
  6. 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
Complete GO annotation...

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

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

BgeeiQ9H6I2.
CleanExiHS_SOX17.
ExpressionAtlasiQ9H6I2. baseline and differential.
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.
GeneTreeiENSGT00760000118988.
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

        10         20         30         40         50
MSSPDAGYAS DDQSQTQSAL PAVMAGLGPC PWAESLSPIG DMKVKGEAPA
60 70 80 90 100
NSGAPAGAAG RAKGESRIRR PMNAFMVWAK DERKRLAQQN PDLHNAELSK
110 120 130 140 150
MLGKSWKALT LAEKRPFVEE AERLRVQHMQ DHPNYKYRPR RRKQVKRLKR
160 170 180 190 200
VEGGFLHGLA EPQAAALGPE GGRVAMDGLG LQFPEQGFPA GPPLLPPHMG
210 220 230 240 250
GHYRDCQSLG APPLDGYPLP TPDTSPLDGV DPDPAFFAAP MPGDCPAAGT
260 270 280 290 300
YSYAQVSDYA GPPEPPAGPM HPRLGPEPAG PSIPGLLAPP SALHVYYGAM
310 320 330 340 350
GSPGAGGGRG FQMQPQHQHQ HQHQHHPPGP GQPSPPPEAL PCRDGTDPSQ
360 370 380 390 400
PAELLGEVDR TEFEQYLHFV CKPEMGLPYQ GHDSGVNLPD SHGAISSVVS
410
DASSAVYYCN YPDV
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.
GeneTreei ENSGT00760000118988.
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

Bgeei Q9H6I2.
CleanExi HS_SOX17.
ExpressionAtlasi Q9H6I2. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 113 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