SOX17
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YUL, 4A3N
Identifiers
Aliases	SOX17, VUR3, SRY-box 17, SRY-box transcription factor 17
External IDs	OMIM: 610928; MGI: 107543; HomoloGene: 7948; GeneCards: SOX17; OMA: SOX17 - orthologs
Gene location ( Human) Chr. Chromosome 8 (human) [1] Band 8q11.23 Start 54,457,935 bp [1] End 54,460,892 bp [1]
Gene location ( Mouse) Chr. Chromosome 1 (mouse) [2] Band 1 A1|1 1.65 cM Start 4,561,154 bp [2] End 4,567,577 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell pericardium endometrium right uterine tube vena cava gonad left uterine tube tibial nerve subcutaneous adipose tissue muscle of thigh Top expressed in left lung lobe gastrula external carotid artery primitive streak internal carotid artery right lung right lung lobe uterus carotid body substantia nigra More reference expression data BioGPS n/a
Gene ontology Molecular function sequence-specific DNA binding DNA binding beta-catenin binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific transcription coactivator activity transcription factor binding protein binding protein heterodimerization activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component transcription regulator complex nucleoplasm nucleus Biological process renal system development endoderm development regulation of embryonic development regulation of transcription, DNA-templated positive regulation of protein catabolic process stem cell fate specification positive regulation of skeletal muscle tissue development embryonic foregut morphogenesis embryonic organ development endodermal digestive tract morphogenesis negative regulation of mesodermal cell fate specification inner cell mass cellular morphogenesis negative regulation of Wnt signaling pathway protein stabilization endocardium formation outflow tract morphogenesis signal transduction involved in regulation of gene expression endodermal cell fate determination mRNA transcription by RNA polymerase II regulation of mesodermal cell fate specification negative regulation of transcription by RNA polymerase II Wnt signaling pathway endocardial cell differentiation regulation of cardiac cell fate specification transcription, DNA-templated stem cell differentiation embryonic heart tube development vasculogenesis positive regulation of transcription, DNA-templated heart looping cardiac cell fate determination common bile duct development negative regulation of Wnt signaling pathway involved in heart development rostrocaudal neural tube patterning positive regulation of gene expression cardiogenic plate morphogenesis heart formation embryonic heart tube morphogenesis negative regulation of cell growth protein destabilization angiogenesis spermatogenesis positive regulation of cell differentiation regulation of stem cell division gastrulation gall bladder development canonical Wnt signaling pathway regulation of cell differentiation cell migration involved in gastrulation endoderm formation regulation of stem cell proliferation negative regulation of canonical Wnt signaling pathway positive regulation of transcription by RNA polymerase II cellular response to leukemia inhibitory factor cell differentiation Sources: Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64321 20671 Ensembl ENSG00000164736 ENSMUSG00000025902 UniProt Q9H6I2 Q61473 RefSeq (mRNA) NM_022454 NM_001289464 NM_001289465 NM_001289466 NM_001289467 NM_011441 RefSeq (protein) NP_071899 NP_001276393 NP_001276394 NP_001276395 NP_001276396 NP_035571 Location (UCSC) Chr 8: 54.46 – 54.46 Mb Chr 1: 4.56 – 4.57 Mb PubMed search [3] [4]
Wikidata
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SRY-box 17 is a protein that in humans is encoded by the SOX17 gene. ^[5]

Regulation at the human SOX17 locus

The gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, located on Chromosome 8 q11.23. Its gene body is isolated within a CTCF loop domain. ^{[6] [7] [8]} Approximately 230 kb upstream of SOX17 it has been identified a tissue specific differentially (hypo-)methylated region (DMR), which consists of SOX17 regulatory elements. ^{[9] [10]} The DMR in particular bears the most distal definitive endoderm specific enhancer at the SOX17 locus. ^[11] SOX17 itself has recently been defined as so called topologically insulated gene (TIG). TIGs per definition are single protein coding genes (PCGs) within CTCF loop domains, that are mainly enriched in developmental regulators and suggested to be very tightly controlled via their 3D loop-domain architecture. ^[12]

Function in development

SOX17 is involved in the regulation of vertebrate embryonic development and in the determination of the endodermal cell fate. The encoded protein acts downstream of TGF beta signaling (Activin) and canonical WNT signaling (Wnt3a). ^{[13] [14]} Especially the correct phosphorylation of SMAD2/3 within the respective cell cycle (early G1 phase) is crucial for the activation of cardinal endodermal genes (e.g. SOX17) to further enter the definitive endodermal lineage. ^[15] Besides that, perturbation of the SOX17 centromertic CTCF-boundary in early definitive endoderm differentiation, leads to massive developmental failure and a so-called mes-endodermal like trapped cell-state, which can be rescued by ectopic SOX17 expression. ^[16] In Xenopus gastrulae it has been shown that SOX17 modifies Wnt responses, where genomic specificity of Wnt/β-catenin transcription is determined through functional interactions between SOX17 and β-catenin/Tcf transcriptional complexes. ^[17]

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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