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FLASH GENE

Symbol

SF3B1

contributors: mct - updated : 06-11-2015

HGNC name	splicing factor 3b, subunit 1, 155kDa
HGNC id	10768

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

eleven HEAT repeats

HOMOLOGY

interspecies	homolog to rattus Sf3b1 (100 pc)
	homolog to murine Sf3b1 (99.9 pc)

Homologene

FAMILY

SF3B1 family

CATEGORY

RNA associated , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	spliceosome
	during mitosis, transiently dispersed from the nuclear speckles to the cytoplasm

basic FUNCTION	required for the assembly of the spliceosomal complex
	involved in the assembly of the 'E' complex
	involved in the splicing of rare class of nuclear pre-mRNA intron
	only spliceosomal protein known to be phosphorylated concomitant with splicing catalysis
	essential component of the spliceosome and its phosphorylation is required for splicing catalysis
	active spliceosome, containing phosphorylated SF3B1, performs potenbtially pre-mRNA splicing on chromatin concomitant with transcription during testicular development
	spliceosomal protein, and probably tumor suppressor

CELLULAR PROCESS

nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

development

text	anterior/posterior pattern formation

PATHWAY

metabolism

signaling

a component	component of the "a" complex in the spliceosome assembly pathway
	minor U12-dependent spliceosome
	core component of RNA splicing machinery

INTERACTION

DNA

binding

RNA

small molecule

protein	U2SnRNP
	U11/U12SnRNP associated splice protein
	associating with other SF3b proteins
	interacting with SAP130
	interacting directly with the splicing factor U2AF
	interacting with PPP1R8 during mitosis (phosphorylated form of SF3B1)
	substrate of the protein kinase DYRK1A, suggesting that DYRK1A may be involved in the regulation of pre mRNA-splicing
	PPP1R8 promotes SF3B1 dephosphorylation (specifically recognizes hyperphosphorylated SF3B1 thorough its Forkhead-associated domain and dissociates from SF3B1 after dephosphorylation by associated protein phosphatase-1)

cell & other

REGULATION

Phosphorylated by

DYRK1A (DYRK1A ias a protein kinase that phosphorylates SF3B1)

Other

phosphorylation on Thr-244, Thr-248 and Thr-313 by cyclin-dependent kinases, occurs concomitantly with the splicing catalytic steps

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral germinal mutation       in myelodysplasia, with increased ring sideroblasts, that is, refractory anaemia with ring sideroblasts (RARS) and refractory cytopenia with multilineage dysplasia tumoral somatic mutation       probably occur during chronic lymphocytic leukemia development tumoral somatic mutation       are prevalent in low-risk myelodysplastic syndromes with ring sideroblasts tumoral somatic mutation       in chronic lymphocytic leukemia tumoral somatic mutation       in patients with myelodysplastic syndrome, with myelodysplastic/myeloproliferative neoplasms and with AML constitutional somatic mutation       more than 90% of the patients with Refractory anemia with ring sideroblasts (RARS) carry somatic mutations in SF3B1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS