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FLASH GENE

Symbol

SFPQ

contributors: mct/pgu - updated : 23-01-2019

HGNC name	splicing factor proline/glutamine-rich
HGNC id	10774

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	9.54 kb     10 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_00566 10 - 3073 NP_005057 - 707 - 2018 29530979

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 Cardiovascular heart       highly Endocrine pancreas         Nervous brain         Reproductive male system testis     highly Homo sapiens Respiratory respiratory tract larynx     highly Urinary bladder         Visual eye

cells

System Cell Pubmed Species Stage Rna symbol Reproductive Sertoli cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

Text	in human embryonic stem cells (hESCs)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two consensus RNA-binding domains
	an unusual N terminus rich in proline and glutamine residues
	a DNA-binding domain
	a protein phosphatase 1 (PP1) consensus binding RVXF motifs, playing an important role in controlling the multifunctional properties of NONO and SFPQ in the regulation of gene transcription
	a coiled-coil interaction motif (ability to polymerize is essential for the cellular functions of SFPQ: disruptive mutation of the coiled-coil interaction motif results in SFPQ mislocalization, reduced formation of nuclear bodies, abrogated molecular interactions and deficient transcriptional regulation)

mono polymer

heteromer , monomer , dimer , tetramer

HOMOLOGY

Homologene

FAMILY

DBHS (Drosophila melanogaster behavior, human splicing) family

CATEGORY

RNA associated , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
	intracellular,nucleus,chromatin/chromosome
text	nuclear, predominantly in nuclear matrix

basic FUNCTION	late splicing factor, repressing the transcription of multiple oncogenic genes
	acting as a progesterone receptor corepressor and contributing to the functional withdrawal of progesterone and the initiation of labor
	repressor which interacts with SIN3A and mediates silencing through the recruitment of HDACs to the receptor DNA binding domains
	with PSPC1 and NONO, may cooperatively regulate androgen receptor-mediated gene transcription
	may have dual functions in homologous recombination and RNA processing
	core paraspeckle protein
	critical to the control of gene expression through the nuclear retention of RNA containing double-stranded RNA regions that have been subject to adenosine-to-inosine editing
	have homologous recombination and non-homologous end joining related activities and also to bind and modulate the function of RAD51
	SFPQ/NONO heterodimer was previously found to enhance DNA strand break rejoining
	have multiple functions in RNA processing, transcription and DNA repair by mitotic recombination
	may function as an activator for the meiosis-specific recombinase DMC1 in higher eukaryotes
	involvement of NONO and SFPQ in DNA double-strand break repair (DSB) and radioresistance
	important role of NONO, PSPC1, SFPQ within the circadian oscillator
	overlapping or redundant roles of NONO, PSPC1, SFPQ as transcriptional cofactors at circadian clock-regulated genes
	is an RNA-binding proteins (RBPs) that binds and regulates multiple mRNAs in dorsal root ganglion sensory neurons and thereby promotes neurotrophin-dependent axonal viability
	acts in nuclei, cytoplasm and axons to regulate functionally related mRNAs essential for axon survival
	plays an important role regulating proliferation and migration during the development of the cerebral cortex
	SFPQ is targeted for proteolysis within the nucleus by viral proteinase 3CD/3C, and a fragment of SFPQ was shown to migrate to the cytoplasm at mid-to-late times of infection
	SFPQ, a proline and glutamine rich splicing factor that participates in diverse molecular functions including paraspeckle formation, microRNA synthesis and transcription regulation, is known to regulate host innate immune response to viruses

CELLULAR PROCESS	nucleotide, recombination
	nucleotide, transcription
	nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	spliceosome integrated in late splicing complex C in the spliceosome assembly process
	component of a snRNP- free complex with SNRPA/U1A
	part of complex consisiting of SFPQ, NONO and MATR3
	SFPQ/NONO heterodimer
	GTF2I, PARP1, and SFPQ proteins, each previously implicated in gene regulation, forms a complex controlling transcription of DYX1C1

INTERACTION

DNA

binding

RNA	binding to intron polypyrimidine tracts

small molecule

protein	binding to PTBP1
	interacting with PARK7 and NONO (binding partner in dopaminergic neuronal cells)
	binding to GAGE6 promoter DNA
	interacts with SNRPA/U1A
	interacts with two FGFR1 fusion partners, ZNF198 and CPSF6, that are functionally related to the recurrent PDGFRalpha partner FIP1L1
	interacting with RAD51, enhancing its-mediated homologous pairing and strand exchange at low RAD51 concentrations and inhibiting it at the optimal concentration
	target of PTK6
	HNRNPM interacts with SFPQ and NONO and co-localizes within defined nuclear structures
	interact with the nuclear matrix protein Matrin 3 (MATR3), which we found to be a novel ATM target
	interacting partner with the RAD51 paralogs, RAD51D, RAD51C and XRCC2
	SFPQ interacts directly with RAD51 and deficiency of both proteins confers a severe loss of cell viability, indicating a synthetic lethal relationship
	interaction between LMX1B and PSPC1 in a larger protein complex also containing SFPQ
	NEAT1 plays an important role in the innate immune response through the transcriptional regulation of antiviral genes by the stimulus-responsive cooperative action of NEAT1 and SFPQ
	interactions between FUS and proteins involved in neurodegenerative diseases and/or ubiquitin proteasome pathway, such as VCP, SFPQ, UBA1, and 26S proteosome non-ATPase regulatory subunit 12 (PSMD12)
	although NONO and SFPQ are nuclear paraspeckle components, these proteins formed cytoplasmic granules with RBPMS in the neurites
	THRAP3 interacts with dimeric SFPQ to block access of RNA to RRM2, thereby regulating the activity of SFPQ toward a broad set of splicing events in T cells
	association of the multifunctional RNA-binding protein SFPQ to KDM1A during the development of the cerebral cortex
	interactions between histone proteins and splicing factors such as RBFOX2, RBFOX3, and splicing factor proline and glutamine rich protein (SFPQ)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     in papillary renal cell carcinoma in which is partnered with the TFE3 gene as a result of a translocation, t(X;1)(p11.2;p34) tumoral       loss of function deficiency of SFPQ alone also leads to sister chromatid cohesion defects and chromosome instability tumoral fusion       with ABL in t(1;9)(p34;q34) and B cell progenitor acute lymphoid leukemia

Susceptibility

to familial and sporadic amyotrophic lateral sclerosis (ALS)

Variant & Polymorphism other	SFPQ intron retention (IR) and nuclear loss are molecular hallmarks of familial and sporadic ALS

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Sfpq disruption caused neuronal apoptosis in developing mouse brains