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FLASH GENE

Symbol

SF1

contributors: mct - updated : 16-10-2018

HGNC name	splicing factor 1
HGNC id	12950

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	11q13.1      Physical location : 64.532.075 - 64.546.316
Synonym name	DNA segment, single copy, probe cCI11-367
	zinc finger protein 162
	mammalian branch point-binding protein mBBP
	transcription factor ZFM1
	Zinc finger motif-1
Synonym symbol(s)	D11S636, ZFM1, ZNF162, BBP, MBBP, ZCCHC25

DNA

TYPE	functioning gene
STRUCTURE	14.24 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

at the MEN1 locus

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_201997 2 splicing 2953 NP_973726 - 571 - 2015 26420826 2 exons NM_201998 13 splicing 2949 NP_973727 59.6 548 - 2015 26420826 13 exons NM_004630 13 splicing 3586 NP_004621 68.2 639 - 2015 26420826 13 exons NM_201995 14 splicing 3154 NP_973724 68.5 638 - 2015 26420826 14 exons NM_001178030 13 - 2946 NP_001171501 - 673 - 2015 26420826 NM_001178031 13 - 3366 NP_001171502 - 613 - 2015 26420826 NM_001346363 13 - 3581 NP_001333292 - 608 - 2015 26420826 NM_001346364 13 - 2944 NP_001333293 - 568 - 2015 26420826 NM_001346409 12 - 2873 NP_001333338 - 433 - 2015 26420826

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 mouth       highly   salivary gland       highly Endocrine adrenal gland       highly Lymphoid/Immune lymph node       highly   spleen       highly   tonsils       highly Nervous nerve cranial nerve     highly Reproductive female system uterus cervix   highly   male system testis     highly Skin/Tegument skin       highly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     moderately Epithelial secretory glandular endocrine

cell lineage	hemapoietic cells
cell lines
fluid/secretion	highly in blood and lymph

at STAGE

physiological period

fetal, pregnancy

Text	liver, placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a nuclear localization signal
	a K homology (KH) motif bound to a RNA binding motif
	a CCHC-type zinc finger domain
	a conserved SPSP motif in a coiled-coil domain of SF1 is highly phosphorylated in proliferating human cells and is required for cell proliferation
	a C terminal glutamine and proline rich domain

conjugated

PhosphoP , Other

mono polymer

complex

HOMOLOGY

interspecies	homolog to rattus Zfp162 (96.8 pc)
	homolog to murine Sf1 (99.2 pc)

Homologene

FAMILY	zinc finger protein family
	BBP/SF1 family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,ribosome
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	distributed throughout the nucleoplasm, where transcription occurs, with additional concentration in nuclear speckles, where splicing factors accumulate when not engaged in splicing

basic FUNCTION	being necessary for the ATP-dependent first step of spliceosome assembly
	potentially involved in regulating RNA cellular metabolism
	may act as transcription repressor
	SF1 and U2AF2 associate cooperatively with pre-mRNA and play a crucial role in 3 prime splice site recognition during early steps of spliceosome assembly
	RNA polymerase II transcription factor activity
	role for SF1 and branch site-like sequences in splice site selection
	SF1 and U2 auxiliary factor (U2AF2) cooperatively recognize the 3 prime splice site during the initial stages of pre-mRNA splicing
	represses proinflammatory gene expression in vascular smooth muscle cells (SMCs) at a global level and thus may also be involved in the attenuation of growth factor-induced phenotype changes in these cells
	the essential splicing factors U2AF2 and SF1 cooperatively bind consensus sequences at the 3' end of introns

CELLULAR PROCESS	nucleotide, transcription, maturation
	nucleotide, transcription, regulation
	nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	acetylated
	spliceosome complex
	SF1 and U2AF form extraspliceosomal complexes before and after taking part in the assembly of catalytic spliceosomes

INTERACTION

DNA

binding

RNA	interacting with U1 snRNA
	binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA

small molecule	metal binding,
	Zn2+

protein	binding to the RRM3 motif of U2AF65
	binding to EWSR1
	binding to FUS
	binding to TAF15
	binding to U2AF2
	direct binding of SF1 to U2AF2 in both the nucleoplasm
	and nuclear speckles
	TRAPPC2 interaction with the transcription factors ENO1, PITX1 and SF1
	antagonizes PDGFB-induced growth and dedifferentiation of vascular smooth muscle cells
	PRPF40B interacts directly with SF1 and associates with U2AF2
	U2AF2 interacts with SF1 and was shown to recruit the U2 snRNP to the spliceosome
	interacts with SURP domains of U2 snRNP-associated proteins

cell & other

REGULATION

induced by

CSF2 (forms ABCDF and B4)

inhibited by

phosphorylation of ser20, interfering with U2AF65 binding and spliceosome assembly

Phosphorylated by

UHMK1, that double-phosphorylates both serines of the SPSP motif

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS