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Protein

Transcription factor SOX-17

Gene

SOX17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi68 – 136HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation, Wnt signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-3769402 Deactivation of the beta-catenin transactivating complex
SIGNORiQ9H6I2

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-17
Gene namesi
Name:SOX17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000164736.5
HGNCiHGNC:18122 SOX17
MIMi610928 gene
neXtProtiNX_Q9H6I2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Vesicoureteral reflux 3 (VUR3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613674
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06516817Q → QTQ in VUR3. 1
Natural variantiVAR_065169178G → C in VUR3. 1 PublicationCorresponds to variant dbSNP:rs267607082EnsemblClinVar.1
Natural variantiVAR_065170259Y → 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 PublicationCorresponds to variant dbSNP:rs267607083EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi64321
MalaCardsiSOX17
MIMi613674 phenotype
OpenTargetsiENSG00000164736
Orphaneti289365 Familial vesicoureteral reflux
PharmGKBiPA38296

Polymorphism and mutation databases

BioMutaiSOX17
DMDMi23822216

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000487651 – 414Transcription factor SOX-17Add BLAST414

Proteomic databases

PaxDbiQ9H6I2
PeptideAtlasiQ9H6I2
PRIDEiQ9H6I2
ProteomicsDBi80988

PTM databases

iPTMnetiQ9H6I2
PhosphoSitePlusiQ9H6I2

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

BgeeiENSG00000164736 Expressed in 142 organ(s), highest expression level in endometrium
CleanExiHS_SOX17
GenevisibleiQ9H6I2 HS

Organism-specific databases

HPAiCAB025594
HPA068399

Interactioni

Subunit structurei

Interacts with CTNNB1, LEF1 and TCF4.By similarity

Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122134, 4 interactors
IntActiQ9H6I2, 7 interactors
STRINGi9606.ENSP00000297316

Structurei

Secondary structure

1414
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9H6I2
SMRiQ9H6I2
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H6I2

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini280 – 413Sox C-terminalPROSITE-ProRule annotationAdd BLAST134

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi312 – 351Gln/Pro-richAdd BLAST40

Phylogenomic databases

eggNOGiENOG410KD20 Eukaryota
ENOG41114B8 LUCA
GeneTreeiENSGT00760000118988
HOGENOMiHOG000069999
HOVERGENiHBG000517
InParanoidiQ9H6I2
KOiK04495
OMAiHMGGHYR
OrthoDBiEOG091G0CYU
PhylomeDBiQ9H6I2

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR033392 Sox7/17/18_central
IPR021934 Sox_C
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PF12067 Sox17_18_mid, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit
PS51516 SOX_C, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06516817Q → QTQ in VUR3. 1
Natural variantiVAR_07877433A → D1 PublicationCorresponds to variant dbSNP:rs189384157Ensembl.1
Natural variantiVAR_065169178G → C in VUR3. 1 PublicationCorresponds to variant dbSNP:rs267607082EnsemblClinVar.1
Natural variantiVAR_065170259Y → 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 PublicationCorresponds to variant dbSNP:rs267607083EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB073988 mRNA Translation: BAB83867.1
AK025905 mRNA Translation: BAB15277.1
CCDSiCCDS6159.1
RefSeqiNP_071899.1, NM_022454.3
UniGeneiHs.98367

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YULNMR-A68-136[»]
4A3NX-ray2.40A68-136[»]
ProteinModelPortaliQ9H6I2
SMRiQ9H6I2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122134, 4 interactors
IntActiQ9H6I2, 7 interactors
STRINGi9606.ENSP00000297316

PTM databases

iPTMnetiQ9H6I2
PhosphoSitePlusiQ9H6I2

Polymorphism and mutation databases

BioMutaiSOX17
DMDMi23822216

Proteomic databases

PaxDbiQ9H6I2
PeptideAtlasiQ9H6I2
PRIDEiQ9H6I2
ProteomicsDBi80988

Protocols and materials databases

DNASUi64321
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297316; ENSP00000297316; ENSG00000164736
GeneIDi64321
KEGGihsa:64321
UCSCiuc003xsb.5 human

Organism-specific databases

CTDi64321
DisGeNETi64321
EuPathDBiHostDB:ENSG00000164736.5
GeneCardsiSOX17
H-InvDBiHIX0034521
HGNCiHGNC:18122 SOX17
HPAiCAB025594
HPA068399
MalaCardsiSOX17
MIMi610928 gene
613674 phenotype
neXtProtiNX_Q9H6I2
OpenTargetsiENSG00000164736
Orphaneti289365 Familial vesicoureteral reflux
PharmGKBiPA38296
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KD20 Eukaryota
ENOG41114B8 LUCA
GeneTreeiENSGT00760000118988
HOGENOMiHOG000069999
HOVERGENiHBG000517
InParanoidiQ9H6I2
KOiK04495
OMAiHMGGHYR
OrthoDBiEOG091G0CYU
PhylomeDBiQ9H6I2

Enzyme and pathway databases

ReactomeiR-HSA-3769402 Deactivation of the beta-catenin transactivating complex
SIGNORiQ9H6I2

Miscellaneous databases

EvolutionaryTraceiQ9H6I2
GenomeRNAii64321
PROiPR:Q9H6I2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164736 Expressed in 142 organ(s), highest expression level in endometrium
CleanExiHS_SOX17
GenevisibleiQ9H6I2 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR033392 Sox7/17/18_central
IPR021934 Sox_C
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PF12067 Sox17_18_mid, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit
PS51516 SOX_C, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSOX17_HUMAN
AccessioniPrimary (citable) accession number: Q9H6I2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 146 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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