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Q9H6I2 (SOX17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor SOX-17
Gene names
Name:SOX17
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length414 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts with CTNNB1, LEF1 and TCF4 By similarity.

Subcellular location

Nucleus By similarity.

Tissue specificity

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. Ref.1

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Contains 1 HMG box DNA-binding domain.

Contains 1 Sox C-terminal domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
Wnt signaling pathway
   Cellular componentNucleus
   DiseaseDisease mutation
   LigandDNA-binding
   Molecular functionActivator
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processangiogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

canonical Wnt signaling pathway

Inferred from electronic annotation. Source: Ensembl

cardiac cell fate determination

Inferred from mutant phenotype PubMed 19736317. Source: BHF-UCL

cardiogenic plate morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

cell migration involved in gastrulation

Inferred from electronic annotation. Source: Ensembl

common bile duct development

Inferred from electronic annotation. Source: Ensembl

embryonic foregut morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

embryonic heart tube development

Inferred from sequence or structural similarity. Source: BHF-UCL

embryonic heart tube morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

endocardial cell differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

endocardium formation

Inferred from sequence or structural similarity. Source: BHF-UCL

endoderm formation

Inferred from direct assay PubMed 18682240. Source: UniProtKB

endodermal cell fate determination

Inferred from electronic annotation. Source: Ensembl

endodermal digestive tract morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

gall bladder development

Inferred from electronic annotation. Source: Ensembl

heart formation

Traceable author statement PubMed 19736317. Source: BHF-UCL

heart looping

Inferred from sequence or structural similarity. Source: UniProtKB

inner cell mass cellular morphogenesis

Inferred from electronic annotation. Source: Ensembl

mRNA transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 22292085. Source: BHF-UCL

negative regulation of Wnt signaling pathway involved in heart development

Inferred from electronic annotation. Source: Ensembl

negative regulation of canonical Wnt signaling pathway

Inferred from mutant phenotype PubMed 18413743Ref.4. Source: BHF-UCL

negative regulation of cell growth

Inferred from mutant phenotype PubMed 18413743. Source: BHF-UCL

negative regulation of mesodermal cell fate specification

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

outflow tract morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of cell differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein catabolic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of skeletal muscle tissue development

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 22292085. Source: BHF-UCL

positive regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: BHF-UCL

protein destabilization

Inferred from mutant phenotype PubMed 17875931. Source: BHF-UCL

protein stabilization

Inferred from mutant phenotype PubMed 17875931. Source: BHF-UCL

regulation of cardiac cell fate specification

Inferred from electronic annotation. Source: Ensembl

regulation of embryonic development

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of stem cell division

Inferred from electronic annotation. Source: Ensembl

regulation of stem cell proliferation

Inferred from electronic annotation. Source: Ensembl

regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

renal system development

Inferred from mutant phenotype Ref.4. Source: BHF-UCL

rostrocaudal neural tube patterning

Inferred from electronic annotation. Source: Ensembl

signal transduction involved in regulation of gene expression

Inferred from electronic annotation. Source: Ensembl

spermatogenesis

Inferred from electronic annotation. Source: Ensembl

stem cell fate specification

Inferred from electronic annotation. Source: Ensembl

vasculogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

   Cellular_componentnucleus

Inferred from direct assay PubMed 17875931PubMed 18682240. Source: UniProtKB

transcription factor complex

Inferred from direct assay PubMed 19736317. Source: BHF-UCL

   Molecular_functionRNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: BHF-UCL

beta-catenin binding

Inferred from physical interaction PubMed 17875931. Source: BHF-UCL

protein binding

Inferred from physical interaction PubMed 17875931. Source: IntAct

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

transcription coactivator activity

Inferred from electronic annotation. Source: Ensembl

transcription factor binding

Inferred from physical interaction PubMed 17875931PubMed 19736317. Source: BHF-UCL

transcription regulatory region DNA binding

Inferred from sequence or structural similarity. Source: BHF-UCL

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CTNNB1P352222EBI-9106753,EBI-491549

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 414414Transcription factor SOX-17
PRO_0000048765

Regions

Domain280 – 413134Sox C-terminal
DNA binding68 – 13669HMG box
Compositional bias312 – 35140Gln/Pro-rich

Natural variations

Natural variant171Q → QTQ in VUR3.
VAR_065168
Natural variant1781G → C in VUR3. Ref.4
VAR_065169
Natural variant2591Y → 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. Ref.4
VAR_065170

Secondary structure

....... 414
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9H6I2 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: C78D1F24BA00ECD1

FASTA41444,117
        10         20         30         40         50         60 
MSSPDAGYAS DDQSQTQSAL PAVMAGLGPC PWAESLSPIG DMKVKGEAPA NSGAPAGAAG 

        70         80         90        100        110        120 
RAKGESRIRR PMNAFMVWAK DERKRLAQQN PDLHNAELSK MLGKSWKALT LAEKRPFVEE 

       130        140        150        160        170        180 
AERLRVQHMQ DHPNYKYRPR RRKQVKRLKR VEGGFLHGLA EPQAAALGPE GGRVAMDGLG 

       190        200        210        220        230        240 
LQFPEQGFPA GPPLLPPHMG GHYRDCQSLG APPLDGYPLP TPDTSPLDGV DPDPAFFAAP 

       250        260        270        280        290        300 
MPGDCPAAGT YSYAQVSDYA GPPEPPAGPM HPRLGPEPAG PSIPGLLAPP SALHVYYGAM 

       310        320        330        340        350        360 
GSPGAGGGRG FQMQPQHQHQ HQHQHHPPGP GQPSPPPEAL PCRDGTDPSQ PAELLGEVDR 

       370        380        390        400        410 
TEFEQYLHFV CKPEMGLPYQ GHDSGVNLPD SHGAISSVVS DASSAVYYCN YPDV 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract."
Gimelli S., Caridi G., Beri S., McCracken K., Bocciardi R., Zordan P., Dagnino M., Fiorio P., Murer L., Benetti E., Zuffardi O., Giorda R., Wells J.M., Gimelli G., Ghiggeri G.M.
Hum. Mutat. 31:1352-1359(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS VUR3 17-GLN--GLN-19 INS; CYS-178 AND ASN-259.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB073988 mRNA. Translation: BAB83867.1.
AK025905 mRNA. Translation: BAB15277.1.
CCDSCCDS6159.1.
RefSeqNP_071899.1. NM_022454.3.
UniGeneHs.98367.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2YULNMR-A68-136[»]
4A3NX-ray2.40A68-136[»]
ProteinModelPortalQ9H6I2.
SMRQ9H6I2. Positions 68-141.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9H6I2. 2 interactions.
STRING9606.ENSP00000297316.

PTM databases

PhosphoSiteQ9H6I2.

Polymorphism databases

DMDM23822216.

Proteomic databases

PaxDbQ9H6I2.
PRIDEQ9H6I2.

Protocols and materials databases

DNASU64321.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297316; ENSP00000297316; ENSG00000164736.
GeneID64321.
KEGGhsa:64321.
UCSCuc003xsb.4. human.

Organism-specific databases

CTD64321.
GeneCardsGC08P055370.
H-InvDBHIX0034521.
HGNCHGNC:18122. SOX17.
HPACAB025594.
MIM610928. gene.
613674. phenotype.
neXtProtNX_Q9H6I2.
Orphanet289365. Familial vesicoureteral reflux.
PharmGKBPA38296.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG242943.
HOGENOMHOG000069999.
HOVERGENHBG000517.
InParanoidQ9H6I2.
KOK04495.
OMACKPEMGL.
OrthoDBEOG7Z3F4W.
PhylomeDBQ9H6I2.

Gene expression databases

ArrayExpressQ9H6I2.
BgeeQ9H6I2.
CleanExHS_SOX17.
GenevestigatorQ9H6I2.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
InterProIPR009071. HMG_box_dom.
IPR021934. Sox_C_TAD.
[Graphical view]
PfamPF00505. HMG_box. 1 hit.
PF12067. Sox_C_TAD. 2 hits.
[Graphical view]
SMARTSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
PROSITEPS50118. HMG_BOX_2. 1 hit.
PS51516. SOX_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9H6I2.
GenomeRNAi64321.
NextBio66237.
PROQ9H6I2.
SOURCESearch...

Entry information

Entry nameSOX17_HUMAN
AccessionPrimary (citable) accession number: Q9H6I2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM