SON (gene)

SON
Identifiers
Aliases	SON, BASS1, C21orf50, DBP-5, NREBP, SON3, SON DNA binding protein, TOKIMS, SON DNA and RNA binding protein
External IDs	OMIM: 182465; MGI: 98353; HomoloGene: 10551; GeneCards: SON; OMA:SON - orthologs
Gene location (Human)
Chr.	Chromosome 21 (human)
End	33,577,481 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	91,476,109 bp
RNA expression pattern
	Top expressed in
	pylorus; ; tendon of biceps brachii; ; cardia; ; nipple; ; trabecular bone; ; renal medulla; ; pericardium; ; right uterine tube; ; trigeminal ganglion; ; seminal vesicula;
	Top expressed in
	tunica media of zone of aorta; ; neural layer of retina; ; retinal pigment epithelium; ; ciliary body; ; vas deferens; ; right lung lobe; ; Rostral migratory stream; ; efferent ductule; ; crypt of lieberkuhn of small intestine; ; maxillary prominence;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	RS domain binding; protein binding; RNA binding; DNA binding; nucleic acid binding;
Cellular component	nuclear speck; nucleus;
Biological process	regulation of cell cycle; cell cycle; mRNA processing; negative regulation of apoptotic process; microtubule cytoskeleton organization; RNA splicing; regulation of mRNA splicing, via spliceosome; mitotic cytokinesis; regulation of RNA splicing;
	Sources:Amigo / QuickGO
Orthologs
	6651
	20658
	ENSG00000159140
	ENSMUSG00000022961
	P18583
	Q9QX47
NM_001291411; NM_001291412; NM_003103; NM_032195; NM_138925;
	NM_138927
	NM_019973; NM_178880
	NP_001278340; NP_001278341; NP_115571; NP_620305
	NP_064357; NP_849211
	Wikidata
View/Edit Human	View/Edit Mouse

SON protein is a protein that in humans is encoded by the SON gene.

SON is the name that has been given to a large Ser/Arg (SR)-related protein, which is a splicing co-factor that contributes to an efficient splicing within cell cycle progression. It is also known as BASS1 (Bax antagonist selected in saccharomyces 1) or NRE-binding protein (Negative regulatory element-binding protein). The most common gene name of this splicing protein is SON, but C21orf50, DBP5, KIAA1019 and NREBP can also be used as synonyms.

The protein encoded by SON gene binds to a specific DNA sequence upstream of the upstream regulatory sequence of the core promoter and second enhancer of human hepatitis B virus (HBV). Through this binding, it represses HBV core promoter activity, transcription of HBV genes, and production of HBV virions. The protein shows sequence similarities with other DNA-binding structural proteins such as gallin, oncoproteins of the MYC family, and the oncoprotein MOS. It may also be involved in protecting cells from apoptosis and in pre-mRNA splicing. Mutation in SON gene is associated with ZTTK syndrome.