Q9H6I2 · SOX17_HUMAN
- ProteinTranscription factor SOX-17
- GeneSOX17
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids414 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Acts as a 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 development of the definitive gut endoderm. Required for normal looping of the embryonic heart tube. Plays an important role in embryonic and postnatal vascular development, including development of arteries. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX18. Required for the generation and maintenance of fetal hematopoietic stem cells, and for fetal hematopoiesis. Probable transcriptional activator in the premeiotic germ cells.
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 68-136 | HMG box | ||||
Sequence: IRRPMNAFMVWAKDERKRLAQQNPDLHNAELSKMLGKSWKALTLAEKRPFVEEAERLRVQHMQDHPNYK |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTranscription factor SOX-17
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9H6I2
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Vesicoureteral reflux 3 (VUR3)
- Note
- 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 alsoMIM:613674
Natural variants in VUR3
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_065168 | 17 | Q>QTQ | in VUR3 | |
VAR_065169 | 178 | G>C | in VUR3; dbSNP:rs267607082 | |
VAR_065170 | 259 | Y>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; dbSNP:rs267607083 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_065168 | 17 | in VUR3 | |||
Sequence: Q → QTQ | ||||||
Natural variant | VAR_078774 | 33 | in dbSNP:rs189384157 | |||
Sequence: A → D | ||||||
Natural variant | VAR_065169 | 178 | in VUR3; dbSNP:rs267607082 | |||
Sequence: G → C | ||||||
Natural variant | VAR_065170 | 259 | 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; dbSNP:rs267607083 | |||
Sequence: Y → N |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 887 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000048765 | 1-414 | UniProt | Transcription factor SOX-17 | |||
Sequence: MSSPDAGYASDDQSQTQSALPAVMAGLGPCPWAESLSPIGDMKVKGEAPANSGAPAGAAGRAKGESRIRRPMNAFMVWAKDERKRLAQQNPDLHNAELSKMLGKSWKALTLAEKRPFVEEAERLRVQHMQDHPNYKYRPRRRKQVKRLKRVEGGFLHGLAEPQAAALGPEGGRVAMDGLGLQFPEQGFPAGPPLLPPHMGGHYRDCQSLGAPPLDGYPLPTPDTSPLDGVDPDPAFFAAPMPGDCPAAGTYSYAQVSDYAGPPEPPAGPMHPRLGPEPAGPSIPGLLAPPSALHVYYGAMGSPGAGGGRGFQMQPQHQHQHQHQHHPPGPGQPSPPPEALPCRDGTDPSQPAELLGEVDRTEFEQYLHFVCKPEMGLPYQGHDSGVNLPDSHGAISSVVSDASSAVYYCNYPDV | |||||||
Modified residue (large scale data) | 302 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 349 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Interacts with CTNNB1, LEF1 and TCF4.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9H6I2 | CTNNB1 P35222 | 2 | EBI-9106753, EBI-491549 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region, domain, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-21 | Polar residues | ||||
Sequence: MSSPDAGYASDDQSQTQSALP | ||||||
Region | 1-22 | Disordered | ||||
Sequence: MSSPDAGYASDDQSQTQSALPA | ||||||
Region | 36-66 | Disordered | ||||
Sequence: LSPIGDMKVKGEAPANSGAPAGAAGRAKGES | ||||||
Region | 256-286 | Disordered | ||||
Sequence: VSDYAGPPEPPAGPMHPRLGPEPAGPSIPGL | ||||||
Compositional bias | 262-285 | Pro residues | ||||
Sequence: PPEPPAGPMHPRLGPEPAGPSIPG | ||||||
Domain | 280-413 | Sox C-terminal | ||||
Sequence: GPSIPGLLAPPSALHVYYGAMGSPGAGGGRGFQMQPQHQHQHQHQHHPPGPGQPSPPPEALPCRDGTDPSQPAELLGEVDRTEFEQYLHFVCKPEMGLPYQGHDSGVNLPDSHGAISSVVSDASSAVYYCNYPD | ||||||
Region | 305-352 | Disordered | ||||
Sequence: AGGGRGFQMQPQHQHQHQHQHHPPGPGQPSPPPEALPCRDGTDPSQPA | ||||||
Compositional bias | 328-342 | Pro residues | ||||
Sequence: PGPGQPSPPPEALPC | ||||||
Motif | 361-369 | 9aaTAD | ||||
Sequence: TEFEQYLHF |
Domain
The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length414
- Mass (Da)44,117
- Last updated2001-03-01 v1
- ChecksumC78D1F24BA00ECD1
Features
Showing features for compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-21 | Polar residues | ||||
Sequence: MSSPDAGYASDDQSQTQSALP | ||||||
Compositional bias | 262-285 | Pro residues | ||||
Sequence: PPEPPAGPMHPRLGPEPAGPSIPG | ||||||
Compositional bias | 328-342 | Pro residues | ||||
Sequence: PGPGQPSPPPEALPC |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB073988 EMBL· GenBank· DDBJ | BAB83867.1 EMBL· GenBank· DDBJ | mRNA | ||
AK025905 EMBL· GenBank· DDBJ | BAB15277.1 EMBL· GenBank· DDBJ | mRNA |