InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SOX17

Summary

InnateDB Protein

IDBP-21999.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SOX17

Protein Name

SRY (sex determining region Y)-box 17

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000297316

InnateDB Gene

IDBG-21997 (SOX17)

Protein Structure

UniProt Annotation

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). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00267}.

Disease Associations

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. {ECO:0000269PubMed:20960469}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:11786926}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	3 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0003713	transcription coactivator activity
GO:0005515	protein binding
GO:0008013	beta-catenin binding
GO:0008134	transcription factor binding
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001525	angiogenesis
GO:0001570	vasculogenesis
GO:0001706	endoderm formation
GO:0001828	inner cell mass cellular morphogenesis
GO:0001947	heart looping
GO:0003142	cardiogenic plate morphogenesis
GO:0003143	embryonic heart tube morphogenesis
GO:0003151	outflow tract morphogenesis
GO:0003308	negative regulation of Wnt receptor signaling pathway involved in heart development
GO:0006355	regulation of transcription, DNA-templated
GO:0007283	spermatogenesis
GO:0007369	gastrulation
GO:0007492	endoderm development
GO:0007493	endodermal cell fate determination
GO:0010628	positive regulation of gene expression
GO:0021903	rostrocaudal neural tube patterning
GO:0023019	signal transduction involved in regulation of gene expression
GO:0030178	negative regulation of Wnt signaling pathway
GO:0030308	negative regulation of cell growth
GO:0031648	protein destabilization
GO:0035050	embryonic heart tube development
GO:0042074	cell migration involved in gastrulation
GO:0042661	regulation of mesodermal cell fate specification
GO:0042662	negative regulation of mesodermal cell fate specification
GO:0042789	mRNA transcription from RNA polymerase II promoter
GO:0045595	regulation of cell differentiation
GO:0045597	positive regulation of cell differentiation
GO:0045732	positive regulation of protein catabolic process
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0045995	regulation of embryonic development
GO:0048568	embryonic organ development
GO:0048617	embryonic foregut morphogenesis
GO:0048643	positive regulation of skeletal muscle tissue development
GO:0048863	stem cell differentiation
GO:0048866	stem cell fate specification
GO:0050821	protein stabilization
GO:0060070	canonical Wnt signaling pathway
GO:0060214	endocardium formation
GO:0060807	regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification
GO:0060913	cardiac cell fate determination
GO:0060914	heart formation
GO:0060956	endocardial cell differentiation
GO:0061009	common bile duct development
GO:0061010	gall bladder development
GO:0061031	endodermal digestive tract morphogenesis
GO:0072001	renal system development
GO:0072091	regulation of stem cell proliferation
GO:0090090	negative regulation of canonical Wnt signaling pathway
GO:2000035	regulation of stem cell division
GO:2000043	regulation of cardiac cell fate specification