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FLASH GENE

Symbol

SON

contributors: mct - updated : 18-10-2016

HGNC name	SON DNA binding protein
HGNC id	11183

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	34.48 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

in mice

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - GART - SON - CRYZL1 - qter
Authors	Reymond (01)

RNA

TRANSCRIPTS	type	messenger

text	alternatively spliced 5.7kb

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed Vg - splicing 8266 - 2386 - 2016 26990989 NM_032195 7 splicing 7497 - 2303 - 2016 26990989 isoform B 10AA (MDSQMLAA(ST)(S/N/G)(S/T) NM_001291411 5 splicing 7903 NP_001278340 - 2108 - 2016 26990989 NM_138927 12 splicing 8412 - 2426 - 2016 26990989 isoform F Va - splicing 7402 - 2140 - 2016 26990989 NM_001291412 11 - 2524 NP_001278341 - 454 - 2016 26990989 variant H

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Endocrine neuroendocrine pituitary     highly   parathyroid       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three groups of repeats reactivated 31 times starting with the tripeptide ELP,
	an alternating serine/arginine (S/R) repeat at the C terminus
	1 DRBM (double-stranded RNA-binding) domain
	a G-patch domain

HOMOLOGY

intraspecies

homolog to c-mos

Homologene

FAMILY

CATEGORY

DNA associated , RNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	DNA- and RNA-binding protein primarily localized to nuclear speckles

basic FUNCTION	may be involved in pre-mRNA splicing
	repressing hepatitis B virus (hbv) core promoter activity and transcription of hbv genes
	and production of hbv virions
	spliceosome-associated factor required for mitotic progression
	has a novel role in maintaining proper nuclear organization of pre-mRNA processing factors in nuclear speckles
	essential for appropriate subnuclear organization of pre-mRNA splicing factors and for promoting normal cell cycle progression
	large Ser/Arg (SR)-related protein, is a splicing cofactor contributing to efficient splicing of cell-cycle regulators
	facilitates the interaction of Ser/Arg proteins with RNA polymerase II and other key spliceosome components, suggesting its function in efficient cotranscriptional RNA processing
	plays a critical role in the proliferation, survival, and tumorigenicity of pancreatic cancer cells
	SON-mediated splicing is required for proper processing of selective transcripts related to cell cycle, microtubules, centrosome maintenance, and genome stability
	is an emerging player in gene regulation during cancer development and progression
	RNA splicing factor, controls MLL complex-mediated transcriptional initiation
	influence cell-cycle progression, genomic integrity, and maintenance of pluripotency in stem cell populations
	is a master regulator governing neurodevelopment and demonstrate the importance of SON-mediated RNA splicing in human development

CELLULAR PROCESS	nucleotide, chromatin organization, remodeling
	nucleotide, transcription, maturation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of spliceosome that plays pleiotropic roles during mitotic progression

INTERACTION

DNA

binding

RNA

small molecule

protein	regulates the proper splicing of transcripts encoding for pluripotency regulators such as POU5F1, PRDM14, E4F1 and MED24
	binds to DNA near transcription start sites, interacts with menin, and inhibits MLL complex assembly, resulting in decreased H3K4me3 and transcriptional repression ( :

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

TOKIMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in acute megakaryoblastic leukemia of Down syndrome constitutional     --low   leads to severe impairment of spindle pole separation, microtubule dynamics, and genome integrity

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	short SON overexpression is a marker indicating aberrant transcriptional initiation in leukemia
Therapy target
	System Type Disorder Pubmed cancer digestive pancreas is a novel therapeutic molecular target for pancreatic cancer

ANIMAL & CELL MODELS